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Taku Ishii, Keiko Uchida, Susumu Hosokawa, Reina Ishizaki, Naofumi F Sumitomo, Yoshiyuki Furutani, Hidekazu Ishida, Shinichi Takatsuki, Kei Inai, Kunihiko Takahashi, Shigetoyo Kogaki, Hiroyuki Fukushima, Yuichi Tamura, Hiroyuki Yamagishi, Shozaburo Doi, : Pharmacological Treatment Practices for Patients with Congenital Heart Disease and Pulmonary Hypertension in Japan: Insights from the Japanese Association of Congenital Heart Disease Registry (JACPHR). Am J Cardiol. 2025.12; 257 18-25. ( PubMed , DOI )

Koutarou Nishimura, Tomoya Isobe, Tsukasa Shigehiro, Masaki Nomura, Weijia Zang, Muran Xiao, Wenjuan Liao, Yui Koike, Akira Nishimura, Aiko Sato-Otsubo, Hiromi Yamazaki, Hiromi Ito, Shinri Okada, Naomi Matsumoto, Wataru Saika, Yifan Zhang, Yumi Aoyama, Chihiro Hasegawa, Takaya Yamasaki, Yasuo Kubota, Kentaro Oki, Nobutaka Kiyokawa, Genta Nagae, Kenichi Yoshida, Yasuhito Nannya, Hiroo Ueno, Shiro Fukuda, Kenji Tatsuno, Shuichi Tsutsumi, Yusuke Shiozawa, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Mariko Eguchi, Yuki Arakawa, Katsuyoshi Koh, Takao Deguchi, Daisuke Tomizawa, Takako Miyamura, Eiichi Ishii, Shuki Mizutani, Satoru Miyano, Hiroyuki Aburatani, Seishi Ogawa, Akifumi Takaori-Kondo, Akihiko Yokoyama, Omar Abdel-Wahab, Patricia Ernst, Junko Takita, Tomokatsu Ikawa, Masatoshi Takagi, Daichi Inoue: Comprehensive Molecular and Functional Analysis of NUTM1-Rearranged Leukemia. Blood. 2025.12; 37 (1): e70284. ( PubMed , DOI )

Lieselotte Vande Walle, Kentaro Kato, Mai Yamagishi, Takashi Kamatani, Alex Vervaeke, Rosa Martín-Pérez, Masaki Shimizu, Takumi Takizawa, Junko Takita, Ryuta Nishikomori, Osamu Ohara, Kazushi Izawa, Yoshitaka Shirasaki, Mohamed Lamkanfi: Single-cell analysis reveals cell death as driver of NLRP3-mediated secretion of IL-1β in human monocytes. Nat Immunol. 2025.12; 26 (12): 2148-2158. ( PubMed , DOI )

Yamashita M, Kamiya T, Kanegane H.: Hematopoietic cell transplantation for leukocyte adhesion deficiency: prevention of graft-versus-host-disease. Expert Rev Hematol. 2025.11; 11 883-891. ( PubMed , DOI )

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Sho Mori, Kosuke Shabana, Toshihiro Matsui, Tomo Nozawa, Yuko Sugita, Minako Tomiita, Yasuo Nakagishi, Yuichi Yamasaki, Hiroaki Umebayashi, Masato Yashiro, Naomi Iwata, Junko Yasumura, Hiroyuki Wakiguchi, Takeshi Yamamoto, Shunichiro Takezaki, Yuka Okura, Tadafumi Yokoyama, Masaki Shimizu, Masahiro Hirayama, Shigeto Tohma, Nami Okamoto, Masaaki Mori: Comparison of clinical practices during the transitional and young adult phases between patients with oligoarticular/polyarticular juvenile idiopathic arthritis and those with rheumatoid arthritis in Japan. Pediatr Rheumatol Online J. 2025.11; 23 (1): 120. ( PubMed , DOI )

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Takishima S, Takasawa K, Matsuda N, Nakatani H, Kashimada K.: A case of autosomal dominant hypophosphatemic rickets Clin Pediatr Endocrinol. 2025.10; 34 (4): 275-279. ( PubMed , DOI )

Hitoshi Irabu, Asami Ohara, Aki Nakamura, Hidehiko Narazaki, Yuko Hayashi, Yuichi Yamasaki, Naomi Iwata, Shiro Ohshima, Susumu Nishiyama, Yasuo Nakagishi, Daisuke Fukuhara, Hiroyuki Ishida, Miwa Goto, Kunio Hashimoto, Ryuhei Yasuoka, Tomo Nozawa, Takako Miyamae, Hiroaki Umebayashi, Masaaki Mori, Masaki Shimizu: Validation of the 2019 EULAR/ACR classification criteria and clinical characteristics of childhood-onset Japanese patients with systemic lupus erythematosus. Mod Rheumatol. 2025.10; ( PubMed , DOI )

Takako Miyamae, Ryoko Sakai, Yuzaburo Inoue, Daigo Kato, Eisuke Inoue, Toru Hirano, Kazushi Izawa, Dai Kishida, Masakazu Matsushita, Kanako Mitsunaga, Masaaki Mori, Hidehiko Narazaki, Ryuta Nishikomori, Masaki Shimizu, Takahiko Sugihara, Shuji Sumitomo, Takayuki Tanaka, Susumi Yamazaki, Ken Yamaji, Naoto Yokogawa, Hajime Yoshifuji, Eiichi Tanaka, Masayoshi Harigai: Comparative clinical practice of juvenile idiopathic arthritis and rheumatoid arthritis in adolescents and young adults: A retrospective cohort study using Japanese health insurance claims data (2016-20). Mod Rheumatol. 2025.10; 35 (6): 935-943. ( PubMed , DOI )

Maho Hatano, Hitoshi Irabu, Yuko Hayashi, Masaki Shimizu: Cotton-Wool Appearance of Muscular Polyarteritis Nodosa on Contrast Magnetic Resonance Imaging. J Rheumatol. 2025.10; ( PubMed , DOI )

Masaki Shimizu, Shuya Kaneko, Asami Shimbo, Maho Hatano, Futaba Miyaoka, Yuko Hayashi, Hitoshi Irabu, Yuko Akutsu, Masaaki Mori: Distinct expression profiles of inflammasome-associated genes in systemic juvenile idiopathic arthritis. Rheumatology (Oxford). 2025.10; ( PubMed , DOI )

Futaba Miyaoka, Hitoshi Irabu, Shuya Kaneko, Tomoya Kaneda, Yuko Akutsu, Yuko Hayashi, Masaki Shimizu: Diverse Joint Manifestations in Anti-MDA5 Antibody-Positive Juvenile Dermatomyositis: A Unique Case Report. Int J Rheum Dis. 2025.10; 28 (10): e70442. ( PubMed , DOI )

Yamano H, Watanabe K, Komatsu M, Hashimoto A, Suzuki Y, Kirino S, Saito Y, Adachi E, Maki G, Nakatani H, Hosokawa-Tsuji A, Kashimada K, Ishige N, Takasawa K: Enhancing Accuracy of Newborn Screening for 21OHD: Strategic Use of 21-Deoxycortisol in a Large-Scale Tokyo Cohort. The Journal of clinical endocrinology and metabolism. 2025.09; 111 (3): 689-697. ( PubMed , DOI )

Mitani Y, Arakawa Y, Ihara Y, Tomita O, Tamura M, Ichimura K, Iwama I, Tanami Y, Niitsu T, Nakazawa A, Kanegane H, Mizuta K, Koh K.: Living-Donor Liver Transplantation for Chronic Hepatic Graft-Versus-Host Disease After Allogeneic Hematopoietic Stem Cell Transplantation for XIAP Deficiency. Pediatr Blood Cancer. 2025.09; 72 (9): e31840. ( PubMed , DOI )

Matsuda S, Ouhara K, Nagatani Y, Asano T, Ohnishi H, Kato Z, Mihara K, Kanegane H, Ueda T, Sasaki S, Taniguchi Y, Ninomiya Y, Ohno Y, Suzuki-Takedachi K, Sotomaru Y, Sakuma T, Yamamoto T, Matsuda Y, Kume K, Sanui T, Nishimura F, Kajiya M, Ueki Y, Kurihara H, Morino H, Okada S, Kawakami H, Mizuno N: Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis. J Exp Med. 2025.09; 222 (9): 100514. ( PubMed , DOI )

Yuji Fujita, Masaki Shimizu, Sayaka Aihara, Kohei Nomura, Shinya Yoshihara, Kaori Sekine, Maho Hatano, Shuya Kaneko, Hideaki Shiraishi: Macrophage activation syndrome associated with multi-system inflammatory syndrome in children: a case report and cytokine profile. Immunol Med. 2025.09; 1-5. ( PubMed , DOI )

Haruki Yamano, Reiko Kagawa, Yoko Saito, Ryosei Iemura, Eriko Adachi, Gau Maki, Takeru Yamauchi, Ryuichi Nakagawa, Akito Sutani, Shigeru Takishima, Fukiko Kitahata, Miyako Murakawa, Takeshi Isoda, Takahiro Kamiya, Satoshi Okada, Tomohiro Morio, Kei Takasawa, Kenichi Kashimada: Severe hepatic steatosis contributes to liver dysfunction in non-obese patients with insulin-resistant diabetes mellitus after hematopoietic stem cell transplantation Pediatrics International. 2025.09; 1 (67):

Makito Sakurai, Yohei Yamaguchi, Kei Takasawa, Susumu Hosokawa, Taku Ishii: Marked improvement in severe pulmonary arterial hypertension following airway infection in a patient with a heterozygous BMP9 nonsense mutation: a case report. Eur Heart J Case Rep. 2025.09; 9 (9): ( PubMed , DOI )

Kentaro Yoshikawa, Kazusi Izawa, Yukako Maeda, Chiaki Tao, Shuhei Karakawa, Masaki Shimizu, Hiroshi Nihira, Eitaro Hiejima, Satoshi Saida, Katsutsugu Umeda, Junko Takita, Takahiro Yasumi: Concurrent Immune Thrombocytopenia and Autoimmune Neutropenia in a 4-Year-Old Male Patient With XIAP Deficiency: A Case Report. Pediatr Blood Cancer. 2025.09; 72 (9): e31891. ( PubMed , DOI )

Susumu Yamazaki, Shuya Kaneko, Asami Shimbo, Hitoshi Irabu, Ryo Ogino, Takayuki Miyamoto, Kazushi Izawa, Yuko Segawa, Jun Kakizaki, Masaaki Mori, Masaki Shimizu: Overlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis Immunol Med. 2025.09; 48 (3): 256-260. ( PubMed , DOI )

Masaki Shimizu, Eisuke Inoue, Ryoko Sakai, Yuzaburo Inoue, Kanako Mitsunaga, Takahiko Sugihara, Toru Hirano, Kazushi Izawa, Dai Kishida, Masakazu Matsushita, Masaaki Mori, Hidehiko Narazaki, Ryuta Nishikomori, Shuji Sumitomo, Takayuki Tanaka, Susumu Yamazaki, Ken Yamaji, Naoto Yokogawa, Hajime Yoshifuji, Takako Miyamae: Verification of unmet medical needs in patients with juvenile idiopathic arthritis in Japan. Mod Rheumatol. 2025.09; 35 (5): 909-915. ( PubMed , DOI )

Shizuka Katsuzaki, Yoshiyuki Takimoto, Chikako Morioka, Masahiro Nakayama, Tatsuya Harada, Yoko Urata, Tomonori Ishikawa, Masatoshi Takagi: Perceptions and moral distress in surplus embryo disposition among Japanese IVF patients: a qualitative study. Front Reprod Health. 2025.09; 7 1646340. ( PubMed , DOI )

Shota Kato, Hiroko Terui-Kohbata, Atsushi Kudo, Masafumi Seki, Junko Takita, Tomohiro Morio, Yoshiko Nakano, Motohiro Kato, Masayuki Yoshida, Masatoshi Takagi: Copy number and structural variant analyses of VHL gene using droplet digital PCR and targeted adaptive sampling long-read sequencing. Familial Cancer. 2025.08; 24 (3): 61. ( PubMed , DOI )

Kana Inoue, Taku Ishii, Yohei Yamaguchi, Satoshi Nagahara, Makito Sakurai, Susumu Hosokawa, Shozaburo Doi: Challenges in accurately assessing acute vasoreactivity in paediatric pulmonary arterial hypertension: case reports highlighting the impact of sedation on diagnostic accuracy Eur Heart J Case Rep. 2025.08; 9 (8): ( PubMed , DOI )

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Hirokazu Yamanouchi, Sagano Onoyama, Kentaro Marutani, Nobutaka Harada, Yuji Ueno, Hikaru Kanemasa, Ryutaro Kira, Shuya Kaneko, Masaki Shimizu, Takayuki Hoshina: Development of mild encephalitis with a reversible splenial lesion prior to the diagnosis of Kawasaki disease: a pediatric case report. Front Pediatr. 2025.08; 13 1652101. ( PubMed , DOI )

Hiroshi Nihira, Daisuke Nakajima, Kazushi Izawa, Yusuke Kawashima, Hirofumi Shibata, Ryo Konno, Motoko Higashiguchi, Takayuki Miyamoto, Masahiko Nishitani-Isa, Eitaro Hiejima, Yoshitaka Honda, Tadashi Matsubayashi, Takashi Ishihara, Masato Yashiro, Naomi Iwata, Yoko Ohwada, Seiichi Tomotaki, Masahiko Kawai, Kosaku Murakami, Hidenori Ohnishi, Masataka Ishimura, Satoshi Okada, Motoi Yamashita, Tomohiro Morio, Akihiro Hoshino, Hirokazu Kanegane, Kohsuke Imai, Yasuko Nakamura, Shigeaki Nonoyama, Toru Uchiyama, Masafumi Onodera, Takashi Ishikawa, Toshinao Kawai, Junko Takita, Ryuta Nishikomori, Osamu Ohara, Takahiro Yasumi: Dried blood spot proteome identifies subclinical interferon signature in neonates with type I interferonopathy. J Allergy Clin Immunol. 2025.08; 156 (2): 473-479.e1. ( PubMed , DOI )

Kanegane H, Miyamoto S, Kamiya T, Ohnishi H, Nishikomori R, Gennery AR, Mori T.: Allogeneic hematopoietic cell transplantation for autoinflammatory disorders. Int J Hematol. 2025.08; 122 (2): 190-198. ( PubMed , DOI )

Yui Innami, Yuki Mizuno, Kentaro Yamada, Kei Takasawa, Yoshifumi Ito, Kentaro Okamoto, Jun Hashimoto, Ryutaro Ohira, Konomi Shimoda, Tomoko Mizuno, Takahiro Kamiya, Toshitaka Yoshii, Masatoshi Takagi, Tomoyuki Aruga: Detorsion of Wandering Spleen Causes Significant Hypersplenism Resulting in Thrombocytopenia and Spinal Cord Injury: A Case Report. Surg Case Rep. 2025.08; 11 (1): 25-0111. ( PubMed , DOI )

Takashi Mikami, Itaru Kato, Akira Nishimura, Minenori Eguchi-Ishimae, Tatsuya Kamitori, Keiji Tasaka, Hirohito Kubota, Tomoya Isobe, Yoshinori Uchihara, Yui Namikawa, Satoru Hamada, Shinichi Tsujimoto, Shotaro Inoue, Takayuki Hamabata, Kazushi Izawa, Takako Miyamura, Daisuke Tomizawa, Toshihiko Imamura, Hidemi Toyoda, Mariko Eguchi, Hiroaki Goto, Seishi Ogawa, Masatoshi Takagi, James Badger Wing, Junko Takita: Multi-omics analysis identifies an M-MDSC-like immunosuppressive phenotype in lineage-switched AML with KMT2A rearrangement. Nat Commun. 2025.08; 16 (1): 7955. ( PubMed , DOI )

Yuko Hayashi, Maho Hatano, Shuya Kaneko, Asami Shimbo, Hitoshi Irabu, Yuko Akutsu, Masaaki Mori, Masaki Shimizu: Clinical Outcomes After SARS-CoV-2 Infection and Vaccination in Patients With Pediatric Rheumatic Diseases. Int J Rheum Dis. 2025.08; 28 (8): e70394. ( PubMed , DOI )

Loftus J, Wogen J, Benjumea D, Jhingran P, Chen Y, Alvir J, Wajnrajch MP, Takasawa K: Persistence with daily growth hormone among children and adolescents with growth hormone deficiency in Japan PLoS One. 2025.08; 20 (8): ( PubMed , DOI )

Sanami Takada, Tsubasa Okano, Kay Tanita, Kaima Tsukada, Masato Watanabe, Atsushi Hijikata, Takuya Naruto, Tzu-Wen Yeh, Saki Kasuga, Sadao Tokimasa, Mariko Taniguchi-Ikeda, Reina Ogata, Azusa Ikeda, Tomohide Goto, Hitoshi Osaka, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Mirjam van der Burg, Mikio Shimada, Hirokazu Kanegane: B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency. J Allergy Clin Immunol Glob. 2025.08; 4 (3): 100514. ( PubMed , DOI )

Shumpei Morita, Taisuke Yamauchi, Yumie Tamura, Tomonori Suzuki, Toshihiro Nomura, Hiroshi Shiraku, Koji Takahashi, Kei Takasawa, Kenichi Kashimada, Tomoko Mizuno: Endocrinological study of low-dose adrenocorticotropic hormone therapy without tapering in infantile epileptic spasms syndrome. Brain Dev. 2025.08; 47 (4): 104376. ( PubMed , DOI )

Yuko Hayashi, Maho Hatano, Shuya Kaneko, Asami Shimbo, Hitoshi Irabu, Masaaki Mori, Masaki Shimizu: Macrophage activation syndrome associated with neonatal lupus erythematosus. Lupus. 2025.08; 34 (9): 978-981. ( PubMed , DOI )

Shuya Kaneko, Maho Hatano, Asami Shimbo, Futaba Miyaoka, Hitoshi Irabu, Yuko Akutsu, Yuko Hayashi, Mao Mizuta, Yasuo Nakagishi, Keiji Akamine, Naomi Iwata, Kenji Furuno, Takayuki Tanaka, Kazuyuki Ueno, Shuhei Fujita, Koji Yokoyama, Toshinori Minato, Kazushi Izawa, Takahiro Yasumi, Tadashi Matsubayashi, Tadashi Hosoya, Hiroki Nishikawa, Junya Fujimura, Ryoko Asano, Yuko Sugita, Kenichi Watanabe, Anna Kobayashi, Takuya Endo, Katsuhide Eguchi, Ryuta Nishikomori, Ryuhei Yasuoka, Takaki Asano, Miyako Kanno, Kazuya Hamada, Yuji Fujita, Daisuke Hayashi, Shojiro Watanabe, Takeshi Shiba, Shinsuke Yasuda, Masaaki Mori, Hirokazu Kanegane, Masatoshi Takagi, Masaki Shimizu: Serum cytokine profiling differentiates underlying diseases in cytokine storm syndrome. Arthritis Rheumatol. 2025.08; ( PubMed , DOI )

Xiong L, Zhao Q, Zhao Q, Zhang Z, An Y, Tang X, Kanegane H, Yang X, Zhao X. : Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia. Front Immunol. 2025.08; 16 1628507. ( PubMed , DOI )

Morimoto M, Nishikawa T, Hijikata A, Kasabata H, Maeda N, Kanmura S, Horikawa S, Nagahama J, Nakamura A, Nakamura T, Abematsu T, Nakagawa S, Shimura K, Narumi S, Kanegane H, Okamoto Y.: Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis. Front Immunol. 2025.07; 16 (10): 1644552. ( PubMed , DOI )

Nishimura M, Tomomasa D, Suzuki R, Miyaoka F, Kanegane H.: Case Report: Preserved umbilical cords underscore family histories of inborn errors of immunity. Front Immunol. 2025.07; 16 1605857. ( PubMed , DOI )

Hirotoshi Sakaguchi, Kimiyoshi Sakaguchi, Itaru Kato, Hisashi Noma, Hidefumi Hiramatsu, Hiroyuki Ishida, Hiromasa Yabe, Hiroaki Goto, Yuta Kawahara, Yuka Iijima Yamashita, Masashi Sanada, Takao Deguchi, Yoshiyuki Takahashi, Akiko M Saito, Masatoshi Takagi, Keisuke Okuno, Takashi Taga, Keizo Horibe, Yasuhiro Okamoto, Katsuyoshi Koh, Atsushi Manabe, Katsutsugu Umeda: Post-transplant maintenance with blinatumomab for children, adolescents, and young adults with relapsed and refractory B-cell acute lymphoblastic leukemia: results of phase I in SCT-ALL-BLIN21. Haematologica. 2025.07; ( PubMed , DOI )

Franziska Auer, Mina N F Morcos, Mikko Sipola, Irfan Akhtar, Sanni Moisio, Julia Vogt, Rebecca Haag, Mari Lahnalampi, Tiina J Tuononen, Andrea Hanel, Anna Viitasalo, Ulrike A Friedrich, Andreas Dahl, Carolin Prexler, Aleksandra A Pandyra, Polina Stepensky, Masatoshi Takagi, Arndt Borkhardt, Merja Heinäniemi, Julia Hauer: Trajectories from single-cells to PAX5-driven leukemia reveal PAX5-MYC interplay in vivo. Leukemia. 2025.07; 39 (7): 1607-1626. ( PubMed , DOI )

Yuji Fujita, Kei Ikeda, Sayumi Saida, Yuya Sato, George Imataka, Shigeko Kuwashima, Takeo Uzuka, Hadzki Matsuda, Kazuyuki Ishida, Harutaka Katano, Masaki Shimizu, Mitsuru Matsuki, Hideaki Shiraishi: Rapidly progressive glucocorticoid-resistant childhood-primary angiitis of the central nervous system positive for HLA-B51 and A26: a case report. Mod Rheumatol Case Rep. 2025.07; 9 (2): ( PubMed , DOI )

Shuya Kaneko, Hitoshi Irabu, Masaki Shimizu: Successful Treatment for Recurrent Histiocytic Necrotizing Lymphadenitis With Low-Dose Hydroxychloroquine. Int J Rheum Dis. 2025.07; 28 (7): e70362. ( PubMed , DOI )

Yuriko Hiruma, Ryuta Orimoto, Lubna Sato, Yasuaki Tagashira, Kei Takasawa: Disseminated Mycobacterium abscessus Infection in a Three-Year-Old Girl With CHARGE Syndrome: A Case Report and Literature Review Cureus. 2025.07; 17 (7): ( PubMed , DOI )

Asami Shimbo, Shuya Kaneko, Hitoshi Irabu, Yuko Akutsu, Yuko Hayashi, Mariko Mouri, Susumu Yamazaki, Masaaki Mori, Masaki Shimizu: Efficacy of hydroxychloroquine treatment for the skin manifestations of juvenile dermatomyositis. Mod Rheumatol Case Rep. 2025.07; 9 (2): ( PubMed , DOI )

Yuko Hayashi, Masaaki Mori, Hiroshi Takase, Masaki Shimizu: Subcutaneous Administration of Methotrexate in Children with Pediatric Rheumatic Diseases. Mod Rheumatol. 2025.07; ( PubMed , DOI )

Ryuta Orimoto, Eriko Adachi, Maki Gau, Yoko Saito, Haruki Yamano, Hisae Nakatani, Shizuka Kirino, Kengo Moriyama, Yohei Yamaguchi, Tomoko Mizuno, Taku Ishii, Masayuki Yoshida, Kenichi Kashimada, Kei Takasawa: Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review. Journal of Human Genetics. 2025.06; 70 (6): 321-324. ( PubMed , DOI )

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Orimoto Ryuta, Adachi Eriko, Gau Maki, Saito Yoko, Yamano Haruki, Nakatani Hisae, Kirino Shizuka, Moriyama Kengo, Yamaguchi Yohei, Mizuno Tomoko, Ishii Taku, Yoshida Masayuki, Kashimada Kenichi, Takasawa Kei: HYAL2遺伝子の新規複合ヘテロ接合性バリアントが原因となったヒアルロニダーゼ2欠損症　多様な臨床的重症度を呈したHYAL2欠損症きょうだいの症例報告と文献レビュー(Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review) Journal of Human Genetics. 2025.06; 70 (6): 321-324. ( 医中誌 )

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Naoto Yokogawa, Ryoko Sakai, Masakazu Matsushita, Masaki Shimizu, Yuzaburo Inoue, Eisuke Inoue, Ken Yamaji, Masaaki Mori, Takako Miyamae: Delayed global standardization and prefectural disparities in systematic lupus erythematosus treatment in Japan: a nationwide study using the National Database of Health Insurance Claims and Specific Health Checkups of Japan. Mod Rheumatol. 2025.02; 35 (2): 294-299. ( PubMed , DOI )

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Naoto Yokogawa, Ryoko Sakai, Masakazu Matsushita, Masaki Shimizu, Yuzaburo Inoue, Eisuke Inoue, Ken Yamaji, Masaaki Mori, Takako Miyamae: Delayed global standardization and prefectural disparities in systemic lupus erythematosus treatment in Japan: A nationwide study using the National Database of Health Insurance Claims and Specific Health Checkups of Japan. Mod Rheumatol. 2025.02; 35 (2): 294-299.

Ikuo Okuchi, Akira Nishimura, Takahiro Kamiya, Makiko Sasaki, Motoi Yamashita, Akihiro Hoshino, Michiko Kajiwara, Takeshi Isoda, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi: Monitoring measurable residual disease in NUP98::NSD1-positive acute myeloid leukemia. Pediatr Int. 2025.01; 67 (1): e15859. ( PubMed , DOI )

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Yuko Akutsu, Mineto Ota, Takahiro Itamiya, Masaaki Mori, Tomohiro Morio, Kazuhiko Yamamoto, Tomohisa Okamura, Keishi Fujio: Effect of Epstein-Barr Virus infection on gene regulation in immune cells of patients with Immune-Mediated Diseases. J Autoimmun. 2025.01; 150 103355. ( PubMed , DOI )

Dan Tomomasa, Madoka Nishimura, Ayami Ohya, Kay Tanita, Ryosuke Wakatsuki, Ryohei Watanabe, Satoshi Miyamoto, Akihiro Hoshino, Takahiro Kamiya, Takeshi Isoda, Shuya Kaneko, Masaki Shimizu, Atsushi Hijikata, Katsuhide Eguchi, Masataka Ishimura, Yukako Maeda, Kazushi Izawa, Takaaki Meguro, Kosuke Fujimoto, Etsuko Ishikita-Murayama, Kyogo Suzuki, Eri Okura, Tomoko Uehara, Tomotada Takayama, Satoshi Okada, Masatoshi Takagi, Tomohiro Morio, Rebecca A Marsh, Hirokazu Kanegane: Comprehensive flow cytometry-based diagnosis of XIAP deficiency. Clin Exp Immunol. 2025.01; 219 (1): uxaf020. ( PubMed , DOI )

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Shizuka Kirino, Ryuichi Nakagawa, Maki Gau, Kei Takasawa, Yasuhiro Murakawa, Hideya Kawaji, Yoshihide Hayashizaki, Tomohiro Morio, Kenichi Kashimada: Analysis of Functional Cis-regulatory Elements Reveals Novel Transcriptional Regulatory Mechanisms in Gonadal Development. Sex Dev. 2025.01; 1-19. ( PubMed , DOI )

Dan Tomomasa, Masatoshi Takagi, Ryohei Watanabe, Ryosuke Wakatsuki, Satoshi Miyamoto, Akihiro Hoshino, Takahiro Kamiya, Takeshi Isoda, Anju Kobayashi, Kenjiro Kosaki, Fumiaki Sakura, Takaki Asano, Toru Uchiyama, Satoshi Okada, Tomohiro Morio, Hirokazu Kanegane: Prolonged diagnostic journey in delayed-onset adenosine deaminase deficiency. Clin Immunol. 2025.01; 270 110405. ( PubMed , DOI )

Chihiro Nakazawa, Yuta Maruyama, Motoko Kamiya, Yukihide Miyosawa, Maho Hatano, Masaki Shimizu, Yozo Nakazawa: Ruxolitinib as salvage therapy for neonatal HLH in preterm twins born to a mother with adult-onset Still's disease. Pediatr Int. 2025; 67 (1): e70203. ( PubMed , DOI )

Okuchi Ikuo, Nishimura Akira, Kamiya Takahiro, Sasaki Makiko, Yamashita Motoi, Hoshino Akihiro, Kajiwara Michiko, Isoda Takeshi, Kanegane Hirokazu, Morio Tomohiro, Takagi Masatoshi: Monitoring measurable residual disease in NUP98::NSD1-positive acute myeloid leukemia(タイトル和訳中) Pediatrics International. 2025; 67 (1): ped.15859. ( 医中誌 )

Tamaki Kato, Yumi Ogura, Chikako Kamae, Tzu-Wen Yeh, Tsubasa Okano, Junya Take, Kanako Mitsui-Sekinaka, Kunihiko Moriya, Janine Reichenbach, Pandiarajan Vignesh, Amit Rawat, Surjit Singh, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio, Osamu Ohara, Kohsuke Imai, Shigeaki Nonoyama: Centralized rapid genetic diagnosis of combined immunodeficiency in Japan. Pediatr Int. 2025; 67 (1): e70085. ( PubMed , DOI )

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Innami Yui, Mizuno Yuki, Yamada Kentaro, Takasawa Kei, Ito Yoshifumi, Okamoto Kentaro, Hashimoto Jun, Ohira Ryutaro, Shimoda Konomi, Mizuno Tomoko, Kamiya Takahiro, Yoshii Toshitaka, Takagi Masatoshi, Aruga Tomoyuki: Detorsion of Wandering Spleen Causes Significant Hypersplenism Resulting in Thrombocytopenia and Spinal Cord Injury: A Case Report. Surgical Case Reports. 2025; 11 (1): scrj.cr.25-0111. ( 医中誌 )

Kato Tamaki, Ogura Yumi, Kamae Chikako, Yeh Tzu-Wen, Okano Tsubasa, Take Junya, Mitsui-Sekinaka Kanako, Moriya Kunihiko, Reichenbach Janine, Vignesh Pandiarajan, Rawat Amit, Singh Surjit, Takagi Masatoshi, Kanegane Hirokazu, Morio Tomohiro, Ohara Osamu, Imai Kohsuke, Nonoyama Shigeaki: Centralized rapid genetic diagnosis of combined immunodeficiency in Japan. Pediatrics International. 2025; 67 (1): ped.70085. ( 医中誌 )

Akutsu Yuko, Shimbo Asami, Mori Masaaki, Shimizu Masaki: Juvenile idiopathic arthritis associated with Kabuki syndrome: A case report(タイトル和訳中) Pediatrics International. 2025; 67 (1): ped.70261. ( 医中誌 )

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Yuko Hayashi, Hitoshi Irabu, Masaki Shimizu: Successful treatment with hydroxychloroquine for refractory annular erythema of Sjögren's disease. Pediatr Int. 2025; 67 (1): e70265. ( PubMed , DOI )

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Shiro Beppu, Takuro Nishikawa, Dan Tomomasa, Atsushi Hijikata, Hiroshi Kasabata, Hideyuki Terazono, Kazuro Ikawa, Tatsuro Nakamura, Shogo Horikawa, Jun Nagahama, Aki Nakamura, Takanari Abematsu, Shunsuke Nakagawa, Kaoru Oketani, Hirokazu Kanegane, Yasuhiro Okamoto: Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant Front Immunol. 2024.11; 15 1478411. ( PubMed , DOI )

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Shuya Kaneko, Fumiaki Sakura, Kay Tanita, Asami Shimbo, Ryusuke Nambu, Masashi Yoshida, Shuichiro Umetsu, Ayano Inui, Chizuru Okada, Miyuki Tsumura, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Osamu Ohara, Masaki Shimizu, Tomohiro Morio, Satoshi Okada, Hirokazu Kanegane: Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function. Immunotherapy Advances. 2023.11;

Masatoshi Takagi, Akihiro Hoshino, Kristine Bousset, Jule Röddecke, Hanna Luisa Martin, Iulia Folcut, Dan Tomomasa, Xi Yang, Junya Kobayashi, Naoki Sakata, Kenichi Yoshida, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Tomohiro Morio, Thilo Dörk, Hirokazu Kanegane: Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants. J Clin Immunol. 2023.11; 43 (8): 2136-2145. ( PubMed , DOI )

Daisuke Kurita, Norio Shiba, Takashi Ohya, Ayako Murase, Yuko Shimosato, Masahiro Yoshitomi, Seira Hattori, Koji Sasaki, Kenichi Nishimura, Shin-Ichi Tsujimoto, Masanobu Takeuchi, Reo Tanoshima, Hirokazu Kanegane, Norihiko Kitagawa, Shuichi Ito: Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features. J Clin Immunol. 2023.11; 43 (8): 1992-1996. ( PubMed , DOI )

Rintaro Ono, Kenichi Sakamoto, Takehiko Doi, Ryu Yanagisawa, Akira Morimoto, Hirokazu Kanegane, Yozo Nakazawa, Yoko Shioda: Dexamethasone palmitate as an etoposide-free treatment for children with hemophagocytic lymphohistiocytosis after hematopoietic cell transplantation. Bone Marrow Transplant. 2023.11; 58 (11): 1286-1288. ( PubMed , DOI )

Akira Nishimura, Ramya Uppuluri, Revathi Raj, Venkateswaran Vellaichamy Swaminathan, Yifei Cheng, Rolla F Abu-Arja, Bin Fu, Alexandra Laberko, Michael H Albert, Fabian Hauck, Giorgia Bucciol, Venetia Bigley, Suzanne Elcombe, Gaurav Kharya, Cornelis Jan H Pronk, Claudia Wehr, Bénédicte Neven, Klaus Warnatz, Isabelle Meyts, Tomohiro Morio, Andrew R Gennery, Hirokazu Kanegane: An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia. J Clin Immunol. 2023.11; 43 (8): 1827-1839. ( PubMed , DOI )

Iwata Naomi, Nishimura Kenichi, Hara Ryoki, Imagawa Tomoyuki, Shimizu Masaki, Tomiita Minako, Umebayashi Hiroaki, Takei Syuji, Seko Noriko, Wakabayashi Ryota, Yokota Shumpei: 日本人全身型若年性特発性関節炎患者の治療におけるカナキヌマブの長期的有効性および安全性　第III相非盲検試験の成績(Long-term efficacy and safety of canakinumab in the treatment of systemic juvenile idiopathic arthritis in Japanese patients: Results from an open-label Phase III study) Modern Rheumatology. 2023.11; 33 (6): 1162-1170. ( 医中誌 )

Shimojima Yamamoto Keiko, Tamura Takeaki, Okamoto Nobuhiko, Nishi Eriko, Noguchi Atsuko, Takahashi Ikuko, Sawaishi Yukio, Shimizu Masaki, Kanno Hitoshi, Minakuchi Yohei, Toyoda Atsushi, Yamamoto Toshiyuki: INV-DUP-DELパターンの先端におけるサイズの小さい染色体内セグメントの同定(Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns) Journal of Human Genetics. 2023.11; 68 (11): 751-757. ( 医中誌 )

Mineto Ota, Masahiro Nakano, Yasuo Nagafuchi, Satomi Kobayashi, Hiroaki Hatano, Ryochi Yoshida, Yuko Akutsu, Takahiro Itamiya, Nobuhiro Ban, Yumi Tsuchida, Hirofumi Shoda, Kazuhiko Yamamoto, Kazuyoshi Ishigaki, Tomohisa Okamura, Keishi Fujio: Multimodal repertoire analysis unveils B cell biology in immune-mediated diseases. Ann Rheum Dis. 2023.11; 82 (11): 1455-1463. ( PubMed , DOI )

Asuka Kono, Manabu Wakamatsu, Yoshihiro Umezawa, Hideki Muramatsu, Hiroki Fujiwara, Dan Tomomasa, Kento Inoue, Keiichiro Hattori, Tetsuo Mitsui, Hidetoshi Takada, Yoshiyuki Minegishi, Yoshiyuki Takahashi, Masahide Yamamoto, Takehiko Mori, Hirokazu Kanegane: Successful treatment of DOCK8 deficiency by allogeneic hematopoietic cell transplantation from alternative donors. Int J Hematol. 2023.10; 118 (4): 519-525. ( PubMed , DOI )

Mayumi Hangai, Takahisa Kawaguchi, Masatoshi Takagi, Keitaro Matsuo, Soyoung Jeon, Charleston W K Chiang, Andrew T Dewan, Adam J De Smith, Toshihiko Imamura, Yasuhiro Okamoto, Akiko M Saito, Takao Deguchi, Michiaki Kubo, Yoichi Tanaka, Yoko Ayukawa, Toshinari Hori, Kentaro Ohki, Nobutaka Kiyokawa, Takeshi Inukai, Yuki Arakawa, Makiko Mori, Daisuke Hasegawa, Daisuke Tomizawa, Hiroko Fukushima, Yuki Yuza, Yasushi Noguchi, Yuichi Taneyama, Setsuo Ota, Hiroaki Goto, Masakatsu Yanagimachi, Dai Keino, Kazutoshi Koike, Daisuke Toyama, Yozo Nakazawa, Kozue Nakamura, Koichi Moriwaki, Yujin Sekinaka, Daisuke Morita, Shinsuke Hirabayashi, Yosuke Hosoya, Yuri Yoshimoto, Hiroki Yoshihara, Miwa Ozawa, Shinobu Kobayashi, Naho Morisaki, Tshewang Gyeltshen, Osamu Takahashi, Yukinori Okada, Makiko Matsuda, Toshihiro Tanaka, Johji Inazawa, Junko Takita, Yasushi Ishida, Akira Ohara, Catherine Metayer, Joseph L Wiemels, Xiaomei Ma, Shuki Mizutani, Katsuyoshi Koh, Yukihide Momozawa, Keizo Horibe, Fumihiko Matsuda, Motohiro Kato, Atsushi Manabe, Kevin Y Urayama: Genome-wide assessment of genetic risk loci for childhood acute lymphoblastic leukemia in Japanese patients. Haematologica. 2023.10; 109 (4): 1247-1252. ( PubMed , DOI )

Tanabe Yujiro, Ota Haruka, Kaneko Shuya, Tsuno Kanae, Watanabe Makoto, Yamanishi Shingo, Narazaki Hidehiko, Fukazawa Ryuji, Shimizu Masaki, Itoh Yasuhiko: 21番染色体トリソミーの一患者で発症した全身型若年性特発性関節炎の臨床経過とサイトカインプロファイル(Clinical Course and Cytokine Profile of Systemic Juvenile Idiopathic Arthritis in a Patient with Trisomy 21) Journal of Nippon Medical School. 2023.10; 90 (5): 419-424. ( 医中誌 )

Tomoko Mizuno, Tadashi Kanouchi, Yumie Tamura, Ko Hirata, Runa Emoto, Tomonori Suzuki, Kenichi Kashimada, Tomohiro Morio: Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports. BMC Neurol. 2023.10; 23 (1): 392. ( PubMed , DOI )

Susumu Yamazaki, Asami Shimbo, Yuko Akutsu, Hiroshi Takase, Tomohiro Morio, Masaaki Mori: Correction: Importance of pediatric rheumatologists and transitional care for juvenile idiopathic arthritis-associated uveitis: a retrospective series of 9 cases. Pediatr Rheumatol Online J. 2023.10; 21 (1): 132. ( PubMed , DOI )

Taku Ishii, Nobutoshi Nawa, Shozaburo Doi, Tomohiro Morio, Takeo Fujiwara: Association between the initiation of insurance coverage for fetal echocardiography and mortality from congenital heart disease in infants: An interrupted time series analysis. Paediatr Perinat Epidemiol. 2023.09; 37 (7): 607-617. ( PubMed , DOI )

Hirokazu Kanegane, Masataka Ishimura, Toshinao Kawai, Satoshi Okada, Nobuaki Okamatsu, Madoka Go, Shinichi Noto: Patient-reported outcomes in patients with primary immunodeficiency diseases in Japan: baseline results from a prospective observational study. Front Immunol. 2023.09; 14 1244250. ( PubMed , DOI )

Narazaki Hidehiko, Akioka Shinji, Akutsu Yuko, Araki Mariko, Fujieda Mikiya, Fukuhara Daisuke, Hara Ryoki, Hashimoto Kunio, Hattori Seira, Hayashibe Ren, Imagawa Tomoyuki, Inoue Yuzaburo, Ishida Hiroyuki, Ito Shuici, Itoh Yasuhiko, Kawabe Tomohiro, Kitoh Toshiyuki, Kobayashi Ichiro, Matsubayashi Tadashi, Miyamae Takako, Mizuta Mao, Mori Masaaki, Murase Ayako, Nakagishi Yasuo, Nagatani Koji, Nakano Naoko, Nishimura Toyoki, Nozawa Tomo, Okamoto Nami, Okura Yuka, Sawada Hiromi, Sawanobori Emi, Sugita Yuko, Tanabe Yujiro, Tomiita Minako, Yamaguchi Ken-ichi, Yasuoka Ryuhei, Yokoyama Koji: 日本小児リウマチ学会の登録データベースにもとづく小児リウマチ性疾患の疫学(Epidemiology conduction of paediatric rheumatic diseases based on the registry database of the Pediatric Rheumatology Association of Japan) Modern Rheumatology. 2023.09; 33 (5): 1021-1029. ( 医中誌 )

Hidehiko Narazaki, Shinji Akioka, Yuko Akutsu, Mariko Araki, Mikiya Fujieda, Daisuke Fukuhara, Ryoki Hara, Kunio Hashimoto, Seira Hattori, Ren Hayashibe, Tomoyuki Imagawa, Yuzaburo Inoue, Hiroyuki Ishida, Shuici Ito, Yasuhiko Itoh, Tomohiro Kawabe, Toshiyuki Kitoh, Ichiro Kobayashi, Tadashi Matsubayashi, Takako Miyamae, Mao Mizuta, Masaaki Mori, Ayako Murase, Yasuo Nakagishi, Koji Nagatani, Naoko Nakano, Toyoki Nishimura, Tomo Nozawa, Nami Okamoto, Yuka Okura, Hiromi Sawada, Emi Sawanobori, Yuko Sugita, Yujiro Tanabe, Minako Tomiita, Ken-Ichi Yamaguchi, Ryuhei Yasuoka, Koji Yokoyama: Epidemiology conduction of paediatric rheumatic diseases based on the registry database of the Pediatric Rheumatology Association of Japan. Mod Rheumatol. 2023.08; 33 (5): 1021-1029. ( PubMed , DOI )

Athimalaipet V Ramanan, Pierre Quartier, Nami Okamoto, Ivan Foeldvari, Alberto Spindler, Šárka Fingerhutová, Jordi Antón, Zhongkai Wang, Gabriella Meszaros, Joana Araújo, Ran Liao, Stuart Keller, Hermine I Brunner, Nicolino Ruperto, , : Baricitinib in juvenile idiopathic arthritis: an international, phase 3, randomised, double-blind, placebo-controlled, withdrawal, efficacy, and safety trial. Lancet. 2023.08; 402 (10401): 555-570. ( PubMed , DOI )

Yogi A, Iemura R, Nakatani H, Takasawa K, Gau M, Yamauchi T, Yoshida M, Moriyama K, Ishii T, Hosokawa S, Yamada M, Suzuki H, Kosaki K, Kashimada K, Morio T: BMP2 is a potential causative gene for isolated dextrocardia situs solitus. European journal of medical genetics. 2023.08; 66 (9): 104820. ( PubMed , DOI )

Nishiyama Y, Mizuki K, Hoshino A, Hirabayashi S, Magara T, Ashiarai M, Miyamoto S, Ono R, Takahashi S, Hosoya Y, Niizato D, Yoshihara H, Nishimura A, Mitsuiki N, Kamiya T, Takasawa K, Kajiwara M, Kanegane H, Morio T, Manabe A, Isoda T, Hasegawa D, Takagi M: Hematopoietic cell transplantation for hematological malignancies in Bloom syndrome. Pediatric blood & cancer. 2023.08; 70 (11): e30655. ( PubMed , DOI )

Niiyama S, Fukuda H, Hirata A, Takenaka S, Isoda T: Recalcitrant multiple warts in GATA2 deficiency treated with systemic etretinate. The Journal of dermatology. 2023.08; 51 (1): e1-e2. ( PubMed , DOI )

Akira Morimoto, Yoko Shioda, Kazuko Kudo, Hirokazu Kanegane, Toshihiko Imamura, Katsuyoshi Koh, Yoshiyuki Kosaka, Yuki Yuza, Atsuko Nakazawa, Akiko M Saito, Tomoyuki Watanabe, Yozo Nakazawa: Intensification of treatment with vinca alkaloid does not improve outcomes in pediatric patients with Langerhans cell histiocytosis: results from the JPLSG LCH-12 study. Int J Hematol. 2023.07; 118 (1): 107-118. ( PubMed , DOI )

Renata Neves, Blanca De Dios Perez, Rafal Panek, Sumit Jagani, Sophie Wilne, Jayesh M Bhatt, Caterina Caputi, Emilia Cirillo, David J Coman, Gregor Dückers, Donald L Gilbert, Mary Kay Koenig, Lobna Mansour, Elizabeth McDermott, Micaela Pauni, Claudio Pignata, Susan L Perlman, Oscar Porras, Mariela Betina Porto, Katherine Schon, Pere Soler-Palacin, Sam Nick Russo, Masatoshi Takagi, Marc Tischkowitz, Claire Wainwright, Madhumita Dandapani, Cristine Glazebrook, Mohnish Suri, William P Whitehouse, Robert A Dineen: Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts. Cancer Med. 2023.07; 12 (13): 14663-14673. ( PubMed , DOI )

Mouri Mariko, Kanamori Toru, Tanaka Eriko, Hiratoko Kanako, Okubo Mariko, Inoue Michio, Morio Tomohiro, Shimizu Masaki, Nishino Ichizo, Okiyama Naoko, Mori Masaaki: Hepatic veno-occlusive disease accompanied by thrombotic microangiopathy developed during treatment of juvenile dermatomyositis and macrophage activation syndrome: A case report(タイトル和訳中) Modern Rheumatology Case Reports. 2023.07; 7 (2): 404-409. ( 医中誌 )

Yamamoto Keiko Shimojima, Tamura Takeaki, Okamoto Nobuhiko, Nishi Eriko, Noguchi Atsuko, Takahashi Ikuko, Sawaishi Yukio, Shimizu Masaki, Kanno Hitoshi, Minakuchi Yohei, Toyoda Atsushi, Yamamoto Toshiyuki: Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns JOURNAL OF HUMAN GENETICS. 2023.07; ( PubMed , DOI )

Motoi Yamashita, Masae Kuroha, Yuko Kinowawki, Nao Kashiwagi, Kotaro Watanabe, Mika Nagase, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Takahiro Kamiya, Atsuko Arisaka, Motoki Inaji, Kenichi Ohashi, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi: A SAMD5-SASH1 fusion in solitary infantile myofibromatosis. Pediatr Blood Cancer. 2023.06; 70 (6): e30278. ( PubMed , DOI )

Shuya Kaneko, Masaki Shimizu, Asami Shimbo, Hitoshi Irabu, Koji Yokoyama, Kenji Furuno, Takayuki Tanaka, Kazuyuki Ueno, Shuhei Fujita, Naomi Iwata, Junya Fujimura, Keiji Akamine, Mao Mizuta, Yasuo Nakagishi, Toshinori Minato, Kenichi Watanabe, Anna Kobayashi, Takuya Endo, Katsuhiko Tabata, Masaaki Mori, Tomohiro Morio: Clinical significance of serum cytokine profiles for differentiating between Kawasaki disease and its mimickers. Cytokine. 2023.06; 169 156280. ( PubMed , DOI )

Mariko Mouri, Toru Kanamori, Eriko Tanaka, Kanako Hiratoko, Mariko Okubo, Michio Inoue, Tomohiro Morio, Masaki Shimizu, Ichizo Nishino, Naoko Okiyama, Masaaki Mori: Hepatic veno-occlusive disease accompanied by thrombotic microangiopathy developed during treatment of juvenile dermatomyositis and macrophage activation syndrome: A case report. Mod Rheumatol Case Rep. 2023.06; 7 (2): 404-409. ( PubMed , DOI )

Mao Mizuta, Natsumi Inoue, Masaki Shimizu, Naoto Sakumura, Tadafumi Yokoyama, Rie Kuroda, Yasuhiro Ikawa, Naotoshi Sugimoto, Kenichi Harada, Akihiro Yachie, Taizo Wada: Distinct roles of IL-18 and IL-1β in murine model of macrophage activation syndrome. J Allergy Clin Immunol. 2023.06; ( PubMed , DOI )

Yohei Yamaguchi, Susumu Hosokawa, Go Haraguchi, Yusuke Kajikawa, Makito Sakurai, Taku Ishii, Noboru Ando, Tomohiro Morio, Shozaburo Doi, Tetsushi Furukawa: The Anti-Inflammatory Effects and Clinical Potential of Dexmedetomidine in Pulmonary Arterial Hypertension. J Pharmacol Exp Ther. 2023.05; 385 (2): 88-94. ( PubMed , DOI )

Ryosuke Wakatsuki, Yoshiho Hatai, Kentaro Okamoto, Shuya Kaneko, Asami Shimbo, Hitoshi Irabu, Masaki Shimizu, Hirokazu Kanegane, Makoto Ono: An infant with A20 haploinsufficiency presenting with periodic fever syndrome: A case report. Int J Rheum Dis. 2023.05; 26 (5): 973-976. ( PubMed , DOI )

Haruka Hiroki, Yuko Ishii, Jinhua Piao, Yui Namikawa, Mitsuko Masutani, Hiroaki Honda, Koshi Akahane, Takeshi Inukai, Tomohiro Morio, Masatoshi Takagi: Targeting Poly(ADP)ribose polymerase in BCR/ABL1-positive cells. Sci Rep. 2023.05; 13 (1): 7588. ( PubMed , DOI )

Carolin Escherich, Wenan Chen, Satoshi Miyamoto, Yui Namikawa, Wenjian Yang, David T Teachey, Zhenhua Li, Elizabeth A Raetz, Eric Larsen, Meenakshi Devidas, Paul L Martin, W Paul Bowman, Gang Wu, Ching-Hon Pui, Stephen P Hunger, Mignon L Loh, Masatoshi Takagi, Jun J Yang: Identification of TCF3 germline variants in pediatric B-cell acute lymphoblastic leukemia. Blood Adv. 2023.05; 7 (10): 2177-2180. ( PubMed , DOI )

Haruka Hiroki, Koshi Akahane, Takeshi Inukai, Tomohiro Morio, Masatoshi Takagi: Synergistic effect of combined PI3 kinase inhibitor and PARP inhibitor treatment on BCR/ABL1-positive acute lymphoblastic leukemia cells. Int J Hematol. 2023.05; 117 (5): 748-758. ( PubMed , DOI )

Satoshi Miyamoto, Kevin Y Urayama, Yuki Arakawa, Katsuyoshi Koh, Yuki Yuza, Daisuke Hasegawa, Yuichi Taneyama, Yasushi Noguchi, Masakatsu Yanagimachi, Takeshi Inukai, Setsuo Ota, Hiroyuki Takahashi, Dai Keino, Daisuke Toyama, Junko Takita, Daisuke Tomizawa, Tomohiro Morio, Kazutoshi Koike, Koichi Moriwaki, Yuya Sato, Junya Fujimura, Daisuke Morita, Yujin Sekinaka, Kozue Nakamura, Kazuo Sakashita, Hiroaki Goto, Atsushi Manabe, Masatoshi Takagi: Rare TCF3 variants associated with pediatric B cell acute lymphoblastic leukemia. Pediatr Hematol Oncol. 2023.05; 41 (1): 1-7. ( PubMed , DOI )

Masaki Shimizu, Kenichi Nishimura, Naomi Iwata, Takahiro Yasumi, Hiroaki Umebayashi, Yasuo Nakagishi, Yuka Okura, Nami Okamoto, Noriko Kinjo, Mao Mizuta, Masato Yashiro, Junko Yasumura, Hiroyuki Wakiguchi, Tomohiro Kubota, Mariko Mouri, Utako Kaneko, Masaaki Mori: Treatment for macrophage activation syndrome associated with systemic juvenile idiopathic arthritis in Japan. Int J Rheum Dis. 2023.05; 26 (5): 938-945. ( PubMed , DOI )

Masanori Yoshida, Kazuhiko Nakabayashi, Wentao Yang, Aiko Sato-Otsubo, Shin-Ichi Tsujimoto, Hiroko Ogata-Kawata, Tomoko Kawai, Keisuke Ishiwata, Mika Sakamoto, Kohji Okamura, Kaoru Yoshida, Ryota Shirai, Tomoo Osumi, Chikako Kiyotani, Yoko Shioda, Keita Terashima, Sae Ishimaru, Yuki Yuza, Masatoshi Takagi, Yuki Arakawa, Toshihiko Imamura, Daisuke Hasegawa, Akiko Inoue, Takako Yoshioka, Shuichi Ito, Daisuke Tomizawa, Katsuyoshi Koh, Kimikazu Matsumoto, Nobutaka Kiyokawa, Seishi Ogawa, Atsushi Manabe, Akira Niwa, Kenichiro Hata, Jun J Yang, Motohiro Kato: Prevalence of pathogenic variants in cancer-predisposing genes in second cancer after childhood solid cancers. Cancer Med. 2023.05; 12 (10): 11264-11273. ( PubMed , DOI )

Fumiaki Sakura, Kosuke Noma, Takaki Asano, Kay Tanita, Etsushi Toyofuku, Kentaro Kato, Miyuki Tsumura, Hiroshi Nihira, Kazushi Izawa, Kanako Mitsui-Sekinaka, Ryo Konno, Yusuke Kawashima, Yoko Mizoguchi, Shuhei Karakawa, Seiichi Hayakawa, Hiroshi Kawaguchi, Kohsuke Imai, Shigeaki Nonoyama, Takahiro Yasumi, Hidenori Ohnishi, Hirokazu Kanegane, Osamu Ohara, Satoshi Okada: A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis. PNAS Nexus. 2023.04; 2 (4): pgad104. ( PubMed , DOI )

Kento Inoue, Satoshi Miyamoto, Dan Tomomasa, Eriko Adachi, Shohei Azumi, Yasuo Horikoshi, Takashi Ishihara, Shinya Osone, Yuta Kawahara, Ko Kudo, Zenichiro Kato, Hidenori Ohnishi, Kenichi Kashimada, Kohsuke Imai, Osamu Ohara, Menno C van Zelm, Morton J Cowan, Tomohiro Morio, Hirokazu Kanegane: Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan. J Clin Immunol. 2023.04; 43 (3): 585-594. ( PubMed , DOI )

Dan Tomomasa, Motoi Yamashita, Takahiro Kamiya, Tomohiro Morio, Hirokazu Kanegane: Maternal Gonosomal Mosaicism Causes XIAP Deficiency. J Clin Immunol. 2023.04; 43 (3): 525-527. ( PubMed , DOI )

Kento Souma, Junya Fujimura, Atushi Nishiyama, Yoshinobu Oyazato, Shuya Kaneko, Masaki Shimizu, Takeshi Morisawa: Serum interleukin-18 level as a possible early diagnostic marker of systemic juvenile idiopathic arthritis. Int J Rheum Dis. 2023.03; 26 (3): 551-553. ( PubMed , DOI )

Shuya Kaneko, Masaki Shimizu, Futaba Miyaoka, Asami Shimbo, Hitoshi Irabu, Mao Mizuta, Yasuo Nakagishi, Naomi Iwata, Junya Fujimura, Masaaki Mori, Tomohiro Morio: The dynamics of laboratory markers reflecting cytokine overproduction in macrophage activation syndrome complicated with systemic juvenile idiopathic arthritis. Clin Immunol. 2023.03; 248 109270. ( PubMed , DOI )

Dirk Roos, Karin van Leeuwen, Manisha Madkaikar, Priyanka M Kambli, Maya Gupta, Vikram Mathews, Amit Rawat, Douglas B Kuhns, Steven M Holland, Martin de Boer, Hirokazu Kanegane, Nima Parvaneh, Myriam Lorenz, Klaus Schwarz, Christoph Klein, Roya Sherkat, Mahbube Jafari, Baruch Wolach, Johan T den Dunnen, Taco W Kuijpers, M Yavuz Köker: Hematologically important mutations: Leukocyte adhesion deficiency (second update). Blood Cells Mol Dis. 2023.03; 99 102726. ( PubMed , DOI )

Dan Tomomasa, Takeshi Isoda, Noriko Mitsuiki, Kento Inoue, Akira Nishimura, Kazuhiro Uda, Toru Uchiyama, Motoi Yamashita, Takahiro Kamiya, Akifumi Endo, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Morton J Cowan, Tomohiro Morio, Hirokazu Kanegane: Successful TCRαβ/CD19-Depleted Hematopoietic Cell Transplantation for a Patient With Artemis Deficiency. J Pediatr Hematol Oncol. 2023.03; 45 (2): e285-e289. ( PubMed , DOI )

Kawaguchi K, Umeda K, Miyamoto S, Yoshida N, Yabe H, Koike T, Kajiwara M, Kawaguchi H, Takahashi Y, Ishimura M, Sakaguchi H, Hama A, Cho Y, Sato M, Kato K, Sato A, Kato K, Tabuchi K, Atsuta Y, Imai K: Graft-versus-host disease-free, relapse-free, second transplant-free survival in allogeneic hematopoietic cell transplantation for genetic disorders. Bone marrow transplantation. 2023.02; ( PubMed , DOI )

Rintaro Ono, Miyuki Tsumura, Saho Shima, Yusuke Matsuda, Kenji Gotoh, Yurina Miyata, Yuko Yoto, Dan Tomomasa, Takanori Utsumi, Hidenori Ohnishi, Zenichiro Kato, Naruhiko Ishiwada, Aki Ishikawa, Taizo Wada, Hisashi Uhara, Ryuta Nishikomori, Daisuke Hasegawa, Satoshi Okada, Hirokazu Kanegane: Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases. J Clin Immunol. 2023.02; 43 (2): 466-478. ( PubMed , DOI )

Moriyama Kengo, Mizuno Tomoko, Suzuki Tomonori, Inaji Motoki, Maehara Taketoshi, Fujita Atsushi, Kato Mitsuhiro, Matsumoto Naomichi: 脳梁離断術が奏効したATP1A3遺伝子関連の幼児期発症発達性およびてんかん性脳症　1症例報告(ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report) Brain & Development. 2023.01; 45 (1): 77-81. ( 医中誌 )

Shuya Kaneko, Asami Shimbo, Hitoshi Irabu, Toshiyuki Yamamoto, Masaki Shimizu: Inverted-duplication-deletion of chromosome 10q identified in a patient with systemic lupus erythematosus. Pediatr Int. 2023.01; 65 (1): e15396. ( PubMed , DOI )

Wakatsuki Ryosuke, Shimizu Masaki, Shimbo Asami, Adachi Eriko, Kanamori Toru, Yamazaki Susumu, Udagawa Tomohiro, Takasawa Kei, Kashimada Kenichi, Morio Tomohiro, Mori Masaaki: 全身性エリテマトーデスを伴った萎縮性自己免疫性甲状腺炎(Atrophic autoimmune thyroiditis complicated with systemic lupus erythematosus) Modern Rheumatology Case Reports. 2023.01; 7 (1): 65-67. ( 医中誌 )

Masaki Shimizu, Hitoshi Irabu, Asami Shimbo, Shuya Kaneko, Masaaki Mori: Monthly intravenous immunoglobulin for refractory intestinal IgA vasculitis. Pediatr Int. 2023.01; e15470. ( PubMed , DOI )

Irabu H, Shimizu M: A Bone-on-Bone Appearance in Chronic Nonbacterial Osteomyelitis. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases. 2023.01; 29 (1): e5. ( PubMed , DOI )

Hirokazu Kanegane: Patient-derived induced pluripotent stem cells underlie the pathogenesis of the diseases. Pediatr Int. 2023.01; 65 (1): e15463. ( PubMed , DOI )

Takeru Kanazawa, Tatsuyuki Ishida, Madoka Shirai, Daiki Niizato, Takeshi Isoda, Yoshifusa Abe, Hirokazu Kanegane: Wiskott-Aldrich syndrome with normal-sized platelets. Pediatr Int. 2023.01; 65 (1): e15453. ( PubMed , DOI )

Arisa Nakamura, Eriko Adachi, Yohei Matsubara, Taku Ishii, Susumu Hosokawa, Kenichi Kashimada, Kei Takasawa: Monitoring hypoparathyroidism in long QT syndrome detected by ECG screening. Pediatr Int. 2023.01; e15481. ( PubMed , DOI )

Rifat Ara Najnin, Md Rasel Al Mahmud, Md Maminur Rahman, Shunichi Takeda, Hiroyuki Sasanuma, Hisashi Tanaka, Yasuhiro Murakawa, Naoto Shimizu, Salma Akter, Masatoshi Takagi, Takuro Sunada, Shusuke Akamatsu, Gang He, Junji Itou, Masakazu Toi, Mary Miyaji, Kimiko M Tsutsui, Scott Keeney, Shintaro Yamada: ATM suppresses c-Myc overexpression in the mammary epithelium in response to estrogen. Cell Rep. 2023.01; 42 (1): 111909. ( PubMed , DOI )

Moriyama K, Mizuno T, Suzuki T, Inaji M, Maehara T, Fujita A, Kato M, Matsumoto N: ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report. Brain & development. 2023.01; 45 (1): 77-81. ( PubMed , DOI )

Ryosuke Wakatsuki, Masaki Shimizu, Asami Shimbo, Eriko Adachi, Toru Kanamori, Susumu Yamazaki, Tomohiro Udagawa, Kei Takasawa, Kenichi Kashimada, Tomohiro Morio, Masaaki Mori: Atrophic autoimmune thyroiditis complicated with systemic lupus erythematosus. Mod Rheumatol Case Rep. 2023.01; 7 (1): 65-67. ( PubMed , DOI )

Eisei Tsutsumi, Kai Yamasaki, Yoshiko Nakano, Masatoshi Takagi, Junichi Hara: Acute myeloid leukemia post RAS-associated autoimmune leukoproliferative disease. Pediatr Int. 2023.01; 65 (1): e15521. ( PubMed , DOI )

Aoi Morishita, Tzu-Wen Yeh, Kouki Tomari, Mihoko Furuichi, Kenichi Kashimada, Tomohiro Morio, Masatoshi Takagi, Kohsuke Imai: Transient immune deficiency accompanied with homozygous CBL rare variant. Pediatr Int. 2023.01; 65 (1): e15439. ( PubMed , DOI )

Hirokazu Kanegane, Atsuko Noguchi, Yuki Yamada, Takahiro Yasumi: Rare diseases presenting with hemophagocytic lymphohistiocytosis. Pediatr Int. 2023; 65 (1): e15516. ( PubMed , DOI )

Shizuka Kirino, Analia Yogi, Eriko Adachi, Hisae Nakatani, Maki Gau, Ryosei Iemura, Haruki Yamano, Toru Kanamori, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kentaro Okamoto, Tomohiro Udagawa, Kei Takasawa, Tomohiro Morio, Kenichi Kashimada: Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report. Sex Dev. 2023; 17 (1): 51-55. ( PubMed , DOI )

Kanazawa Takeru, Ishida Tatsuyuki, Shirai Madoka, Niizato Daiki, Isoda Takeshi, Abe Yoshifusa, Kanegane Hirokazu: 血小板サイズに異常がみられないWiskott-Aldrich症候群(Wiskott-Aldrich syndrome with normal-sized platelets) Pediatrics International. 2023; 65 (1): ped.15453. ( 医中誌 )

Unuma K, Tomomasa D, Noma K, Yamamoto K, Matsuyama TA, Makino Y, Hijikata A, Wen S, Ogata T, Okamoto N, Okada S, Ohashi K, Uemura K, Kanegane H: Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality. Frontiers in immunology. 2023; 14 1121059. ( PubMed , DOI )

Sara Konishi, Rintaro Ono, Miyuki Tanaka, Ken-Ichi Imadome, Yozo Nakazawa, Hirokazu Kanegane, Daisuke Hasegawa: Cytokine-based disease monitoring in refractory HLH with primary EBV infection. Pediatr Int. 2023; 65 (1): e15590. ( PubMed , DOI )

Shimizu Masaki, Irabu Hitoshi, Shimbo Asami, Kaneko Shuya, Mori Masaaki: 腸の難治性IgA血管炎に対する月1回の免疫グロブリン静注(Monthly intravenous immunoglobulin for refractory intestinal IgA vasculitis) Pediatrics International. 2023; 65 (1): ped.15470. ( 医中誌 )

Kaneko Shuya, Shimbo Asami, Irabu Hitoshi, Yamamoto Toshiyuki, Shimizu Masaki: 染色体10qに逆位重複欠失を認めた全身性エリテマトーデス患者の1例(Inverted-duplication-deletion of chromosome 10q identified in a patient with systemic lupus erythematosus) Pediatrics International. 2023; 65 (1): ped.15396. ( 医中誌 )

Nakamura Arisa, Adachi Eriko, Matsubara Yohei, Ishii Taku, Hosokawa Susumu, Kashimada Kenichi, Takasawa Kei: 心電図スクリーニングで発見されたQT延長症候群例での副甲状腺機能低下症のモニタリング(Monitoring hypoparathyroidism in long QT syndrome detected by electrocardiogram screening) Pediatrics International. 2023; 65 (1): 1 of 3-3 of 3. ( 医中誌 )

Takizawa Chieko, Nakatani Hisae, Saito Yoko, Tsuji-Hosokawa Atsumi, Kikuchi Eriko, Shimoda Masuhiro, Takasawa Kei: 高カルシウム血症エピソードが出現した常染色体顕性低カルシウム血症の1例(A hypercalcemic episode in an adolescent with autosomal dominant hypocalcemia) Pediatrics International. 2023; 65 (1): 1 of 3-3 of 3. ( 医中誌 )

Hirokazu Kobushi, Katsutsugu Umeda, Eitaro Hiejima, Kentaro Kato, Mayumi Sugimoto, Hirokazu Kanegane, Junko Takita: Alemtuzumab-based reduced-intensity conditioning for XIAP deficiency. Pediatr Int. 2023; 65 (1): e15576. ( PubMed , DOI )

Kaneko S, Sakura F, Tanita K, Shimbo A, Nambu R, Yoshida M, Umetsu S, Inui A, Okada C, Tsumura M, Yamada M, Suzuki H, Kosaki K, Ohara O, Shimizu M, Morio T, Okada S, Kanegane H: Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function. Immunotherapy advances. 2023; 3 (1): ltad027. ( PubMed , DOI )

Chida-Nagai A, Masaki N, Maeda K, Sasaki K, Sato H, Muneuchi J, Ochiai Y, Murayama H, Tahara M, Shiono A, Shinozuka A, Kono F, Machida D, Toyooka S, Sugimoto S, Nakamura K, Akagi S, Kondo M, Kasahara S, Kotani Y, Koizumi J, Oda K, Harada M, Nakajima D, Murata A, Nagata H, Yatsunami K, Kobayashi T, Matsunaga Y, Inoue T, Yamagishi H, Nakagawa N, Ohtani K, Yamamoto M, Ito Y, Hokosaki T, Kuwahara Y, Masutani S, Nomura K, Wada T, Sawada H, Abiko M, Takahashi T, Ishikawa Y, Okada S, Naitoh A, Toda T, Ando T, Masuzawa A, Hoshino S, Kawada M, Nomura Y, Ueno K, Ohashi N, Tachibana T, Cao Y, Ueda H, Yanagi S, Koide M, Mitsushita N, Higashi K, Minosaki Y, Hayashi T, Okamoto T, Kuraishi K, Ehara E, Ishida H, Horigome H, Murakami T, Takei K, Ishii T, Harada G, Hirata Y, Maeda J, Tatebe S, Ota C, Hayabuchi Y, Sakazaki H, Sasaki T, Hirono K, Suzuki S, Yasuda M, Takeda A, Sawai M, Miyaji K, Kitagawa A, Nakai Y, Kakimoto N, Agematsu K, Manabe A, Saiki Y: Use of the index of pulmonary vascular disease for predicting long-term outcome of pulmonary arterial hypertension associated with congenital heart disease. Frontiers in cardiovascular medicine. 2023; 10 1212882. ( PubMed , DOI )

Shuya Kaneko, Masaki Shimizu, Asami Shimbo, Hitoshi Irabu, Susumu Yamazaki, Toru Kanamori, Tomohiro Udagawa, Tomohiro Morio, Masaaki Mori: A girl with hearing loss, dizziness, hypertension, and pyelonephritis with ureteral edema: Answers Pediatr Nephrol. 2022.12; 37 (12): 3059-3061. ( PubMed , DOI )

Kaneko Shuya, Shimizu Masaki, Shimbo Asami, Irabu Hitoshi, Yamazaki Susumu, Kanamori Toru, Udagawa Tomohiro, Morio Tomohiro, Mori Masaaki: A girl with hearing loss, dizziness, hypertension, and pyelonephritis with ureteral edema: Questions PEDIATRIC NEPHROLOGY. 2022.12; 37 (12): 3057-3058. ( PubMed , DOI )

Naomi Iwata, Kenichi Nishimura, Ryoki Hara, Tomoyuki Imagawa, Masaki Shimizu, Minako Tomiita, Hiroaki Umebayashi, Syuji Takei, Noriko Seko, Ryota Wakabayashi, Shumpei Yokota: Long-term Efficacy and Safety of Canakinumab in the Treatment of Systemic Juvenile Idiopathic Arthritis in Japanese Patients: Results from an Open-label Phase III Study. Mod Rheumatol. 2022.11; ( PubMed , DOI )

Daiki Niizato, Takeshi Isoda, Noriko Mitsuiki, Shuya Kaneko, Dan Tomomasa, Takahiro Kamiya, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Masaki Shimizu, Tomohiro Morio, Hirokazu Kanegane: Case report: Optimized ruxolitinib-based therapy in an infant with familial hemophagocytic lymphohistiocytosis type 3 Frontiers in Immunology. 2022.11;

Tomoko Niwano, Tadashi Hosoya, Saori Kadowaki, Etsushi Toyofuku, Takuya Naruto, Masaki Shimizu, Hidenori Ohnishi, Ryuji Koike, Tomohiro Morio, Kohsuke Imai, Masayuki Yoshida, Shinsuke Yasuda: An adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa. Rheumatology (Oxford). 2022.11; 61 (11): e337-e340. ( PubMed , DOI )

Rintaro Ono, Miyuki Tsumura, Saho Shima, Yusuke Matsuda, Kenji Gotoh, Yurina Miyata, Yuko Yoto, Dan Tomomasa, Takanori Utsumi, Hidenori Ohnishi, Zenichiro Kato, Naruhiko Ishiwada, Aki Ishikawa, Taizo Wada, Hisashi Uhara, Ryuta Nishikomori, Daisuke Hasegawa, Satoshi Okada, Hirokazu Kanegane: Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases Journal of Cinical Immunology. 2022.11;

Kento Inoue, Satoshi Miyamoto, Dan Tomomasa, Eriko Adachi, Shohei Azumi, Yasuo Horikoshi, Takashi Ishihara, Shinya Osone, Yuta Kawahara, Ko Kudo, Zenichiro Kato, Hidenori Ohnishi, Kenichi Kashimada, Kohsuke Imai, Osamu Ohara, Menno C van Zelm, Morton J Cowan, Tomohiro Morio, Hirokazu Kanegane : Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan Journal of Cinical Immunology. 2022.11;

Dan Tomomasa, Motoi Yamashita, Takahiro Kamiya, Tomohiro Morio, Hirokazu Kanegane: Maternal Gonosomal Mosaicism Causes XIAP Deficiency 2022.11;

Kirino S, Suzuki M, Ogawa T, Takasawa K, Adachi E, Gau M, Takahashi K, Ikeno M, Yamada M, Suzuki H, Kosaki K, Moriyama K, Yoshida M, Morio T, Kashimada K: Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant. European Journal of Medical Genetics. 2022.11; 65 (11): 104623. ( PubMed , DOI )

Auer Franziska, Escuerdo Adela, Friedrich Ulrike Anne, Stepensky Polina, Borkhardt Arndt, Elitzur Sarah, Takagi Masatoshi, Hauer Julia.: Familial Predisposition to B-Cell Precursor Acute Lymphoblastic Leukemia Mediated By PAX5 Germline Variants. Blood. 2022.11; 140 8888-8889. ( DOI )

Kazuhiro Watanabe, Atsumi Tsuji-Hosokawa, Atsuko Hashimoto, Kaoru Konishi, Nobuyuki Ishige, Harumi Yajima, Akito Sutani, Hisae Nakatani, Maki Gau, Kei Takasawa, Toshihiro Tajima, Tomonobu Hasegawa, Tomohiro Morio, Kenichi Kashimada: The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2022.11; 107 (12): 3341-3352. ( PubMed , DOI )

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Daiki Niizato, Takeshi Isoda, Noriko Mitsuiki, Shuya Kaneko, Dan Tomomasa, Takahiro Kamiya, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Masaki Shimizu, Tomohiro Morio, Hirokazu Kanegane: Case report: Optimized ruxolitinib-based therapy in an infant with familial hemophagocytic lymphohistiocytosis type 3. Front Immunol. 2022.11; 13 977463. ( PubMed , DOI )

Christoph B Geier, Maryssa Ellison, Rachel Cruz, Sumit Pawar, Alexander Leiss-Piller, Katarina Zmajkovicova, Shannon M McNulty, Melis Yilmaz, Martin Oman Evans, Sumai Gordon, Boglarka Ujhazi, Ivana Wiest, Hassan Abolhassani, Asghar Aghamohammadi, Sara Barmettler, Saleh Bhar, Anastasia Bondarenko, Audrey Anna Bolyard, David Buchbinder, Michaela Cada, Mirta Cavieres, James A Connelly, David C Dale, Ekaterina Deordieva, Morna J Dorsey, Simon B Drysdale, Stephan Ehl, Reem Elfeky, Francesca Fioredda, Frank Firkin, Elizabeth Förster-Waldl, Bob Geng, Vera Goda, Luis Gonzalez-Granado, Eyal Grunebaum, Elzbieta Grzesk, Sarah E Henrickson, Anna Hilfanova, Mitsuteru Hiwatari, Chihaya Imai, Winnie Ip, Soma Jyonouchi, Hirokazu Kanegane, Yuta Kawahara, Amer M Khojah, Vy Hong-Diep Kim, Marina Kojić, Sylwia Kołtan, Gergely Krivan, Daman Langguth, Yu-Lung Lau, Daniel Leung, Maurizio Miano, Irina Mersyanova, Talal Mousallem, Mica Muskat, Flavio A Naoum, Suzie A Noronha, Monia Ouederni, Shuichi Ozono, G Wendell Richmond, Inga Sakovich, Ulrich Salzer, Catharina Schuetz, Filiz Odabasi Seeborg, Svetlana O Sharapova, Katja Sockel, Alla Volokha, Malte von Bonin, Klaus Warnatz, Oliver Wegehaupt, Geoffrey A Weinberg, Ke-Juin Wong, Austen Worth, Huang Yu, Yulia Zharankova, Xiaodong Zhao, Lisa Devlin, Adriana Badarau, Krisztian Csomos, Marton Keszei, Joao Pereira, Arthur G Taveras, Sarah L Beaussant-Cohen, Mei-Sing Ong, Anna Shcherbina, Jolan E Walter: Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients. J Clin Immunol. 2022.11; 42 (8): 1748-1765. ( PubMed , DOI )

Motoi Yamashita, Shiori Eguchi, Dan Tomomasa, Takahiro Kamiya, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Hanako Funakoshi, Yuki Mizuno, Kentaro Okamoto, Tuan Minh Nguyen, Hidetoshi Takada, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane: Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I. Front Immunol. 2022.10; 13 1020362. ( PubMed , DOI )

Yoichi Tanaka, Kevin Y Urayama, Makiko Mori, Yuki Arakawa, Daisuke Hasegawa, Yasushi Noguchi, Masakatsu Yanagimachi, Dai Keino, Setsuo Ota, Koshi Akahane, Takeshi Inukai, Mayumi Hangai, Takahisa Kawaguchi, Masatoshi Takagi, Katsuyoshi Koh, Fumihiko Matsuda, Atsushi Manabe: Prominence of NUDT15 genetic variation associated with 6-mercaptopurine tolerance in a genome-wide association study of Japanese children with acute lymphoblastic leukaemia. Br J Haematol. 2022.10; 199 (2): 260-269. ( PubMed , DOI )

Tanabe Y, Ota H, Kaneko S, Tsuno K, Watanabe M, Yamanishi S, Narazaki H, Fukazawa R, Shimizu M, Itoh Y: Clinical course and cytokine analysis of a systemic juvenile idiopathic arthritis patient with trisomy 21. Journal of Nippon Medical School = Nippon Ika Daigaku zasshi. 2022.10; ( PubMed , DOI )

Satoshi Miyamoto, Takasuke Ebato, Eri Watanabe, Tomohiro Morio, Hirokazu Kanegane: B-Cell Immune Reconstitution with Mixed Chimerism After Hematopoietic Cell Transplantation in a Patient with Severe Combined Immunodeficiency J Clin Immunol. 2022.10; 42 (7): 1392-1395. ( PubMed , DOI )

Motoi Yamashita, Shiori Eguchi, Dan Tomomasa, Takahiro Kamiya, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Hanako Funakoshi, Yuki Mizuno, Kentaro Okamoto, Tuan Minh Nguyen, Hidetoshi Takada, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane: Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I Frontiers in Immunology. 2022.10;

Yuya Muramoto, Hiroshi Nihira, Masahiro Shiokawa, Kazushi Izawa, Eitaro Hiejima, Hiroshi Seno, Japan Pediatric Inflammatory Bowel Disease Working Group: Anti-Integrin αvβ6 Antibody as a Diagnostic Marker for Pediatric Patients With Ulcerative Colitis. Gastroenterology. 2022.10; 163 (4): 1094-1097.e14. ( PubMed , DOI )

Aaqib Zaffar Banday, Anit Kaur, Tadayuki Akagi, Dharmagat Bhattarai, Masahiro Muraoka, Diksha Dev, Jhumki Das, Man Updesh Singh Sachdeva, Indrani Karmakar, Kanika Arora, Gurjit Kaur, Vignesh Pandiarajan, Ankur Kumar Jindal, Taizo Wada, H Phillip Koeffler, Deepti Suri, Jasmina Ahluwalia, Hirokazu Kanegane, Prateek Bhatia, Amit Rawat, Surjit Singh: A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia. J Clin Immunol. 2022.10; 42 (7): 1434-1450. ( PubMed , DOI )

Asami Shimbo, Masaki Shimizu, Shuya Kaneko, Hitoshi Irabu, Tomohiro Morio: Clinical Significance of Vascular Ultrasonography in the Diagnosis of Early Childhood Takayasu Arteritis Presenting as Fever of Unknown Origin. J Paediatr Child Health. 2022.10; 58 (10): 1910-1911. ( PubMed , DOI )

Shimizu Masaki, Takei Syuji, Mori Masaaki, Yachie Akihiro: Pathogenic roles and diagnostic utility of interleukin-18 in autoinflammatory diseases FRONTIERS IN IMMUNOLOGY. 2022.09; 13 951535. ( PubMed , DOI )

Dan Tomomasa, Eitaro Hiejima, Takayuki Miyamoto, Kay Tanita, Masaki Matsuoka, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Takahiro Yasumi, Menno C van Zelm, Tomohiro Morio, Hirokazu Kanegane: Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3. Clin Immunol. 2022.09; 242 109104. ( PubMed , DOI )

Miyamoto Takayuki, Honda Yoshitaka, Izawa Kazushi, Kanazawa Nobuo, Kadowaki Saori, Ohnishi Hidenori, Fujimoto Masakazu, Kambe Naotomo, Kase Naoya, Shiba Takeshi, Nakagishi Yasuo, Akizuki Shuji, Murakami Kosaku, Bamba Masahiro, Nishida Yutaka, Inui Ayano, Fujisawa Tomoo, Nishida Daisuke, Iwata Naomi, Otsubo Yoshikazu, Ishimori Shingo, Nishikori Momoko, Tanizawa Kiminobu, Nakamura Tomoyuki, Ueda Takeshi, Ohwada Yoko, Tsuyusaki Yu, Shimizu Masaki, Ebato Takasuke, Iwao Kousho, Kubo Akiharu, Kawai Toshinao, Matsubayashi Tadashi, Miyazaki Tatsuhiko, Kanayama Tomohiro, Nishitani-Isa Masahiko, Nihira Hiroshi, Abe Junya, Tanaka Takayuki, Hiejima Eitaro, Okada Satoshi, Ohara Osamu, Saito Megumu K., Takita Junko, Nishikomori Ryuta, Yasumi Takahiro: Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience FRONTIERS IN IMMUNOLOGY. 2022.09; 13 905960. ( PubMed , DOI )

Adela Escudero, Masatoshi Takagi, Franziska Auer, Ulrike Anne Friedrich, Satoshi Miyamoto, Atsushi Ogawa, Kohsuke Imai, Barbara Pascual, María Vela, Polina Stepensky, Layal Yasin, Sarah Elitzur, Arndt Borkhardt, Antonio Pérez-Martínez, Julia Hauer: Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants. Leukemia. 2022.09; 36 (9): 2338-2342. ( PubMed , DOI )

Dan Tomomasa, Eitaro Hiejima, Takayuki Miyamoto, Kay Tanita, Masaki Matsuoka, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Takahiro Yasumi, Menno C van Zelm, Tomohiro Morio, Hirokazu Kanegane: Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3 Clinical Immunology. 2022.09;

Masahiro Nakano, Mineto Ota, Yusuke Takeshima, Yukiko Iwasaki, Hiroaki Hatano, Yasuo Nagafuchi, Takahiro Itamiya, Junko Maeda, Ryochi Yoshida, Saeko Yamada, Aya Nishiwaki, Haruka Takahashi, Hideyuki Takahashi, Yuko Akutsu, Takeshi Kusuda, Hiroyuki Suetsugu, Lu Liu, Kwangwoo Kim, Xianyong Yin, So-Young Bang, Yong Cui, Hye-Soon Lee, Hirofumi Shoda, Xuejun Zhang, Sang-Cheol Bae, Chikashi Terao, Kazuhiko Yamamoto, Tomohisa Okamura, Kazuyoshi Ishigaki, Keishi Fujio: Distinct transcriptome architectures underlying lupus establishment and exacerbation. Cell. 2022.09; 185 (18): 3375-3389.e21. ( PubMed , DOI )

Rintaro Ono, Kenichi Sakamoto, Takehiko Doi, Ryu Yanagisawa, Akihiro Tamura, Hiroya Hashimoto, Hirokazu Kanegane, Eiichi Ishii, Yozo Nakazawa, Yoko Shioda, : A retrospective survey of patients who discontinued participation in the JPLSG HLH-2004 clinical trial. Int J Hematol. 2022.09; 116 (3): 434-441. ( PubMed , DOI )

Iemura Ryosei, Kirino Shizuka, Sutani Akito, Kashimada Kenichi, Takasawa Kei: TSHR体細胞変異に起因する自律機能性甲状腺結節(Autonomously functioning thyroid nodule due to a somatic TSHR mutation) Pediatrics International. 2022.08; 64 (1): 1 of 3-3 of 3. ( 医中誌 )

Higuchi Toru, Izawa Kazushi, Miyamoto Takayuki, Honda Yoshitaka, Nishiyama Atsuko, Shimizu Masaki, Takita Junko, Yasumi Takahiro: An efficient diagnosis: A patient with X-linked inhibitor of apoptosis protein (XIAP) deficiency in the setting of infantile hemophagocytic lymphohistiocytosis was diagnosed using high serum interleukin-18 combined with common laboratory parameters PEDIATRIC BLOOD & CANCER. 2022.08; 69 (8): e29606. ( PubMed , DOI )

Qian Zhang, Daniela Matuozzo, Jérémie Le Pen, Danyel Lee, Leen Moens, Takaki Asano, Jonathan Bohlen, Zhiyong Liu, Marcela Moncada-Velez, Yasemin Kendir-Demirkol, Huie Jing, Lucy Bizien, Astrid Marchal, Hassan Abolhassani, Selket Delafontaine, Giorgia Bucciol, , Gulsum Ical Bayhan, Sevgi Keles, Ayca Kiykim, Selda Hancerli, Filomeen Haerynck, Benoit Florkin, Nevin Hatipoglu, Tayfun Ozcelik, Guillaume Morelle, Mayana Zatz, Lisa F P Ng, David Chien Lye, Barnaby Edward Young, Yee-Sin Leo, Clifton L Dalgard, Richard P Lifton, Laurent Renia, Isabelle Meyts, Emmanuelle Jouanguy, Lennart Hammarström, Qiang Pan-Hammarström, Bertrand Boisson, Paul Bastard, Helen C Su, Stéphanie Boisson-Dupuis, Laurent Abel, Charles M Rice, Shen-Ying Zhang, Aurélie Cobat, Jean-Laurent Casanova: Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. J Exp Med. 2022.08; 219 (8): ( PubMed , DOI )

Tomoya Isobe, Masatoshi Takagi, Aiko Sato-Otsubo, Akira Nishimura, Genta Nagae, Chika Yamagishi, Moe Tamura, Yosuke Tanaka, Shuhei Asada, Reina Takeda, Akiho Tsuchiya, Xiaonan Wang, Kenichi Yoshida, Yasuhito Nannya, Hiroo Ueno, Ryo Akazawa, Itaru Kato, Takashi Mikami, Kentaro Watanabe, Masahiro Sekiguchi, Masafumi Seki, Shunsuke Kimura, Mitsuteru Hiwatari, Motohiro Kato, Shiro Fukuda, Kenji Tatsuno, Shuichi Tsutsumi, Akinori Kanai, Toshiya Inaba, Yusuke Shiozawa, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Rishi S Kotecha, Mark N Cruickshank, Fumihiko Ishikawa, Tomohiro Morio, Mariko Eguchi, Takao Deguchi, Nobutaka Kiyokawa, Yuki Arakawa, Katsuyoshi Koh, Yuki Aoki, Takashi Ishihara, Daisuke Tomizawa, Takako Miyamura, Eiichi Ishii, Shuki Mizutani, Nicola K Wilson, Berthold Göttgens, Satoru Miyano, Toshio Kitamura, Susumu Goyama, Akihiko Yokoyama, Hiroyuki Aburatani, Seishi Ogawa, Junko Takita: Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemia. Nat Commun. 2022.08; 13 (1): 4501. ( PubMed , DOI )

Shimizu Masaki, Shimbo Asami, Irabu Hitoshi, Inoue Natsumi, Kuroda Mondo: Hirayama disease JOINT BONE SPINE. 2022.07; 89 (4): 105354. ( PubMed , DOI )

Susumu Yamazaki, Masaki Shimizu, Yuko Akutsu, Asami Shimbo, Masaaki Mori: Tacrolimus as an alternative treatment for patients with juvenile idiopathic arthritis. Mod Rheumatol. 2022.07; 32 (4): 783-791. ( PubMed , DOI )

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Yamazaki Susumu, Shimizu Masaki, Akutsu Yuko, Shimbo Asami, Mori Masaaki: 若年性特発性関節炎患者に対する代替療法としてのタクロリムス(Tarcolimus as an alternative treatment for patients with juvenile idiopathic arthritis) Modern Rheumatology. 2022.07; 32 (4): 783-791. ( 医中誌 )

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Ko Kudo, Tsutomu Toki, Rika Kanezaki, Tatsuhiko Tanaka, Takuya Kamio, Tomohiko Sato, Shinya Sasaki, Masaru Imamura, Chihaya Imai, Kumiko Ando, Harumi Kakuda, Takehiko Doi, Hiroshi Kawaguchi, Masahiro Irie, Yoji Sasahara, Akihiro Tamura, Daiichiro Hasegawa, Yosuke Itakura, Kenichiro Watanabe, Kenichi Sakamoto, Yoko Shioda, Motohiro Kato, Kazuko Kudo, Reiji Fukano, Atsushi Sato, Hiroshi Yagasaki, Hirokazu Kanegane, Itaru Kato, Katsutsugu Umeda, Souichi Adachi, Tatsuki Kataoka, Akira Kurose, Atsuko Nakazawa, Kiminori Terui, Etsuro Ito: V600E-positive cells as molecular markers of bone marrow disease in pediatric Langerhans cell histiocytosis. Haematologica. 2022.06; 107 (7): 1719-1725. ( PubMed , DOI )

Kei Takasawa, Kenichi Kashimada: Toward Improving the Transition of Patients With Congenital Adrenal Hyperplasia From Pediatrics to Adult Healthcare in Japan. Front Pediatr. 2022.06; 10 936944. ( PubMed , DOI )

Yamaguchi Yohei, Takasawa Kei, Irabu Hitoshi, Hiratoko Kanako, Ichigi Yosuke, Hirata Ko, Tamura Yumie, Murakoshi Miki, Yamashita Motoi, Nakatani Hisae, Shimoda Masuhiro, Ishii Taku, Udagawa Tomohiro, Shimizu Masaki, Kanegane Hirokazu, Morio Tomohiro: 日本人小児の難治性COVID-19関連多系統炎症性症候群に対するインフリキシマブ治療(Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child) Journal of Infection and Chemotherapy. 2022.06; 28 (6): 814-818. ( 医中誌 )

Takagi M, Ogawa C, Iehara T, Aoki-Nogami Y, Ishibashi E, Imai M, Kimura T, Nagata M, Yasuhara M, Masutani M, Yoshimura K, Tomizawa D, Ogawa A, Yonemori K, Morishita A, Miyamoto S, Takita J, Kihara T, Nobori K, Hasebe K, Miya F, Ikeda S, Shioda Y, Matsumoto K, Fujimura J, Mizutani S, Morio T, Hosoi H, Koike R: First phase 1 clinical study of olaparib in pediatric patients with refractory solid tumors. Cancer. 2022.05; 128 (15): 2949-2957. ( PubMed , DOI )

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Zineb Sbihi, Kay Tanita, Camille Bachelet, Christine Bole, Fabienne Jabot-Hanin, Frederic Tores, Marc Le Loch, Radi Khodr, Akihiro Hoshino, Christelle Lenoir, Matias Oleastro, Mariana Villa, Lucia Spossito, Emma Prieto, Silvia Danielian, Erika Brunet, Capucine Picard, Takashi Taga, Shimaa Said Mohamed Ali Abdrabou, Takeshi Isoda, Masafumi Yamada, Alejandro Palma, Hirokazu Kanegane, Sylvain Latour: Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence. J Clin Immunol. 2022.04; 42 (3): 559-571. ( PubMed , DOI )

Miyamoto S, Umeda K, Kurata M, Yanagimachi M, Iguchi A, Sasahara Y, Okada K, Koike T, Tanoshima R, Ishimura M, Yamada M, Sato M, Takahashi Y, Kajiwara M, Kawaguchi H, Inoue M, Hashii Y, Yabe H, Kato K, Atsuta Y, Imai K, Morio T.: Hematopoietic Cell Transplantation for Inborn Errors of Immunity Other than Severe Combined Immunodeficiency in Japan: Retrospective Analysis for 1985-2016 J Clin Immunol. 2022.04; 42 (3): 529-545. ( PubMed )

Yusuke Noguchi, Atsuko Taki, Izumi Honda, Manabu Sugie, Tsunanori Shidei, Kazuyuki Ito, Haruka Iwata, Akira Koyama, Kaoru Okazaki, Masatoshi Kondo, Chikako Morioka, Kenichi Kashimada, Tomohiro Morio: Transcriptome analysis of umbilical cord mesenchymal stem cells revealed fetal programming due to chorioamnionitis Sci Rep. 2022.04; 12 (1): 6537. ( PubMed , DOI )

Eguchi Shiori, Isoda Takeshi, Yamaguchi Asuka, Takagi Masatoshi: 出生時に紫斑病を呈したグランツマン血小板無力症の新規変異(Novel variants for Glanzmann thrombasthenia manifesting with purpura at birth) Pediatrics International. 2022.04; 64 (1): 1 of 3-3 of 3. ( 医中誌 )

Shohei Eto, Yoko Nukui, Miyuki Tsumura, Yu Nakagama, Kenichi Kashimada, Yoko Mizoguchi, Takanori Utsumi, Maki Taniguchi, Fumiaki Sakura, Kosuke Noma, Yusuke Yoshida, Shinichiro Ohshimo, Shintaro Nagashima, Keisuke Okamoto, Akifumi Endo, Kohsuke Imai, Hirokazu Kanegane, Hidenori Ohnishi, Shintaro Hirata, Eiji Sugiyama, Nobuaki Shime, Masanori Ito, Hiroki Ohge, Yasutoshi Kido, Paul Bastard, Jean-Laurent Casanova, Junko Tanaka, Tomohiro Morio, Satoshi Okada: Neutralizing Type I Interferon Autoantibodies in Japanese Patients With Severe COVID-19 Res Sq. 2022.03; ( PubMed , DOI )

Haitian Nan, Tomoko Mizuno, Atsuko Arisaka, Kenshi Sei, Yoshihisa Takiyama: A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum. Neurol Sci. 2022.03; 43 (3): 2123-2126. ( PubMed , DOI )

Dan Tomomasa, Claire Booth, Jack J Bleesing, Takeshi Isoda, Chie Kobayashi, Kazutoshi Koike, Takeshi Taketani, Akihisa Sawada, Akihiro Tamura, Rebecca A Marsh, Tomohiro Morio, Andrew R Gennery, Hirokazu Kanegane: Preemptive hematopoietic cell transplantation for asymptomatic patients with X-linked lymphoproliferative syndrome type 1 Clin Immunol. 2022.03; 237 108993. ( PubMed , DOI )

Hepei Yuan, Momoko Nishikori, Chiyoko Ueda, Masakazu Fujimoto, Takahiro Yasumi, Yasuyuki Otsuka, Toshio Kitawaki, Masahiro Hirata, Hironori Haga, Hirokazu Kanegane, Akifumi Takaori-Kondo: A sporadic case of CTLA4 haploinsufficiency manifesting as Epstein-Barr virus-positive diffuse large B-cell lymphoma. J Clin Exp Hematop. 2022.03; 62 (1): 52-57. ( PubMed , DOI )

Kazumoto Iijima, Mayumi Sako, Mari Oba, Seiji Tanaka, Riku Hamada, Tomoyuki Sakai, Yoko Ohwada, Takeshi Ninchoji, Tomohiko Yamamura, Hiroyuki Machida, Yuko Shima, Ryojiro Tanaka, Hiroshi Kaito, Yoshinori Araki, Tamaki Morohashi, Naonori Kumagai, Yoshimitsu Gotoh, Yohei Ikezumi, Takuo Kubota, Koichi Kamei, Naoya Fujita, Yasufumi Ohtsuka, Takayuki Okamoto, Takeshi Yamada, Eriko Tanaka, Masaki Shimizu, Tomoko Horinouchi, Akihide Konishi, Takashi Omori, Koichi Nakanishi, Kenji Ishikura, Shuichi Ito, Hidefumi Nakamura, Kandai Nozu, : Mycophenolate Mofetil after Rituximab for Childhood-Onset Complicated Frequently-Relapsing or Steroid-Dependent Nephrotic Syndrome. J Am Soc Nephrol. 2022.02; 33 (2): 401-419. ( PubMed , DOI )

Kay Tanita, Yoshiki Kawamura, Hiroki Miura, Noriko Mitsuiki, Takahiro Tomoda, Kento Inoue, Akihiro Iguchi, Masafumi Yamada, Taro Yoshida, Hideki Muramatsu, Norimasa Tada, Toshihiro Matsui, Motohiro Kato, Katsuhide Eguchi, Masataka Ishimura, Shouichi Ohga, Kohsuke Imai, Tomohiro Morio, Tetsushi Yoshikawa, Hirokazu Kanegane: Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan. Front Immunol. 2022.02; 13 786375. ( PubMed , DOI )

David Egg, Ina Caroline Rump, Noriko Mitsuiki, Jessica Rojas-Restrepo, Maria-Elena Maccari, Charlotte Schwab, Annemarie Gabrysch, Klaus Warnatz, Sigune Goldacker, Virginia Patiño, Daniel Wolff, Satoshi Okada, Seiichi Hayakawa, Yoshiaki Shikama, Kenji Kanda, Kohsuke Imai, Manabu Sotomatsu, Makoto Kuwashima, Takahiro Kamiya, Tomohiro Morio, Kazuaki Matsumoto, Takeshi Mori, Yuri Yoshimoto, Ingunn Dybedal, Maria Kanariou, Zeynep Yesim Kucuk, Hugo Chapdelaine, Lenka Petruzelkova, Hanns-Martin Lorenz, Kathleen E Sullivan, Jennifer Heimall, Michel Moutschen, Jiri Litzman, Mike Recher, Michael H Albert, Fabian Hauck, Suranjith Seneviratne, Jana Pachlopnik Schmid, Antonios Kolios, Gary Unglik, Christian Klemann, Scott Snapper, Lisa Giulino-Roth, Michael Svaton, Craig D Platt, Sophie Hambleton, Olaf Neth, Geraldine Gosse, Steffen Reinsch, Dirk Holzinger, Yae-Jean Kim, Shahrzad Bakhtiar, Faranaz Atschekzei, Reinhold Schmidt, Georgios Sogkas, Shanmuganathan Chandrakasan, William Rae, Beata Derfalvi, Hanne Vibeke Marquart, Ahmet Ozen, Ayca Kiykim, Elif Karakoc-Aydiner, Pavlína Králíčková, Godelieve de Bree, Dimitra Kiritsi, Markus G Seidel, Robin Kobbe, Jennifer Dantzer, Laia Alsina, Thais Armangue, Vassilios Lougaris, Philipp Agyeman, Sofia Nyström, David Buchbinder, Peter D Arkwright, Bodo Grimbacher: Therapeutic options for CTLA-4 Insufficiency J Allergy Clin Immunol. 2022.02; 149 (2): 736-746. ( PubMed , DOI )

Dan Tomomasa, Kay Tanita, Seishi Higashi, Yuri Tasaka, Takashi Shimamura, Urara Sakurai, Tomoyo Matsubara, Satoshi Okada, Tomohiro Morio, Hirokazu Kanegane: Early diagnosis of partial interferon-γ receptor 1 deficiency prevents the development of Bacille de Calmette et Guérin osteomyelitis Clin Immunol. 2022.02; 235 108933. ( PubMed , DOI )

Honda Takaya, Yamaoka Masayoshi, Mikami Terao Yoko, Hasegawa Daisuke, Kumamoto Tadashi, Takagi Masatoshi, Yoshida Kenichi, Ogawa Seishi, Goto Hiroaki, Akiyama Masaharu: フルダラビン、大量シタラビン、その後の非血縁臍帯血移植が奏効した肝脾T細胞リンパ腫(Successful treatment of hepatosplennic T-cell lymphoma with fludarabine, high-dose cytarabine and subsequent unrelated umbilical cord blood transplantation) International Journal of Hematology. 2022.01; 115 (1): 140-145. ( 医中誌 )

Teppei Ohkawa, Akira Nishimura, Kenjiro Kosaki, Yuki Aoki-Nogami, Daisuke Tomizawa, Kenichi Kashimada, Tomohiro Morio, Motohiro Kato, Shuki Mizutani, Masatoshi Takagi: PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome. J Hum Genet. 2022.01; 67 (1): 51-54. ( PubMed , DOI )

Yamaguchi Y, Takasawa K, Irabu H, Hiratoko K, Ichigi Y, Hirata K, Tamura Y, Murakoshi M, Yamashita M, Nakatani H, Shimoda M, Ishii T, Udagawa T, Shimizu M, Kanegane H, Morio T: Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child. Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy. 2022.01; ( PubMed , DOI )

Hatano Maho, Shimizu Masaki, Miyaoka Futaba, Kanai Hozumi, Nishioka Masato: Microgeodic disease with multiple skin ulcers PEDIATRICS INTERNATIONAL. 2022.01; 64 (1): e15013. ( PubMed , DOI )

Hoshi Yurika, Shimizu Masaki, Shimbo Asami, Yamazaki Susumu, Mori Masaaki: Overt myositis in a girl with systemic lupus erythematosus PEDIATRICS INTERNATIONAL. 2022.01; 64 (1): e15338. ( PubMed , DOI )

Masaki Shimizu, Asami Shimbo, Susumu Yamazaki, Yuko Segawa, Masaaki Mori: Septic arthritis of the pubic symphysis in a patient with SLE. Pediatr Int. 2022.01; 64 (1): e14875. ( PubMed , DOI )

Eguchi S, Isoda T, Yamaguchi A, Takagi M: Novel variants for Glanzmann thrombasthenia manifesting with purpura at birth. Pediatr Int. 2022.01; 64 (1): e15149. ( PubMed , DOI )

Yusuke Noguchi, Tsunanori Shidei, Chikako Morioka, Kenichi Kashimada, Tomohiro Morio: A suspected case of heterotopic glia in an MM-twin discordant for anencephaly Pediatr Int. 2022.01; 64 (1): e15027. ( PubMed , DOI )

Susumu Yamazaki, Asami Shimbo, Takahiro Kamiya, Masaki Shimizu, Masaaki Mori: Ankylosing spondylitis, Crohn's disease, and myelodysplasia in an adolescent. Pediatr Int. 2022.01; 64 (1): e15215. ( PubMed , DOI )

Etsushi Toyofuku, Kozue Takeshita, Hidenori Ohnishi, Yuko Kiridoshi, Hiroaki Masuoka, Tomonori Kadowaki, Ryuta Nishikomori, Kenichi Nishimura, Chie Kobayashi, Takasuke Ebato, Tomonari Shigemura, Yuzaburo Inoue, Wataru Suda, Masahira Hattori, Tomohiro Morio, Kenya Honda, Hirokazu Kanegane: Dysregulation of the Intestinal Microbiome in Patients With Haploinsufficiency of A20. Front Cell Infect Microbiol. 2022.01; 11 787667. ( PubMed , DOI )

Takaya Honda, Masayoshi Yamaoka, Yoko Mikami Terao, Daisuke Hasegawa, Tadashi Kumamoto, Masatoshi Takagi, Kenichi Yoshida, Seishi Ogawa, Hiroaki Goto, Masaharu Akiyama: Successful treatment of hepatosplenic T-cell lymphoma with fludarabine, high-dose cytarabine and subsequent unrelated umbilical cord blood transplantation. Int J Hematol. 2022.01; 115 (1): 140-145. ( PubMed , DOI )

Takasawa Kei, Nakamura-Utsunomiya Akari, Amano Naoko, Ishii Tomohiro, Hasegawa Tomonobu, Hasegawa Yukihiro, Tajima Toshihiro, Ida Shinobu: 日本における21-水酸化酵素欠損症に対する移行期医療の現状　小児内分泌医の展望(Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists) Endocrine Journal. 2022.01; 69 (1): 75-83. ( 医中誌 )

Dan Tomomasa, Takeshi Sato, Tomonobu Hasegawa, Tomohiro Morio, Hirokazu Kanegane: Cartilage-hair hypoplasia with T-cell dysfunction. Pediatr Int. 2022.01; 64 (1): e15080. ( PubMed , DOI )

Hikaru Minagawa, Takako Miyamura, Yoshiko Hashii, Hirokazu Kanegane, Keiichi Ozono: Skeletal dysplasia in adenosine deaminase deficiency. Pediatr Int. 2022.01; 64 (1): e15214. ( PubMed , DOI )

Kohsuke Imai, Tomonori Ishii, Shigeaki Nonoyama, Takahiro Yasumi, Hirokazu Kanegane, Taku Fukushima, Masayuki Matsumaru, Tetsushi Akasaki, Hideo Usui: Real-world results with IgPro20 for hypo- or agammaglobulinemia in Japan. Pediatr Int. 2022.01; 64 (1): e15362. ( PubMed , DOI )

Akihiro Hoshino, Etsushi Toyofuku, Noriko Mitsuiki, Motoi Yamashita, Keisuke Okamoto, Michio Yamamoto, Kenji Kanda, Genki Yamato, Dai Keino, Yuri Yoshimoto-Suzuki, Junji Kamizono, Yasuhiro Onoe, Takuya Ichimura, Mika Nagao, Masaru Yoshimura, Koji Tsugawa, Toru Igarashi, Kanako Mitsui-Sekinaka, Yujin Sekinaka, Takehiko Doi, Takahiro Yasumi, Yozo Nakazawa, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Tomohiro Morio, Sylvain Latour, Hirokazu Kanegane: Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study Front Immunol. 2022.01; 12 784901. ( PubMed , DOI )

Ohkawa Teppei, Nishimura Akira, Kosaki Kenjiro, Aoki-Nogami Yuki, Tomizawa Daisuke, Kashimada Kenichi, Morio Tomohiro, Kato Motohiro, Mizutani Shuki, Takagi Masatoshi: Schuurs-Hoeijmakers症候群におけるPAX3/7-FOXO1融合遺伝子陰性の胞巣型横紋筋肉腫(PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome) Journal of Human Genetics. 2022.01; 67 (1): 51-54. ( 医中誌 )

Maki Gau, Ryota Suga, Atsushi Hijikata, Ayako Kashimada, Masatoshi Takagi, Ryuichi Nakagawa, Kei Takasawa, Tsuyoshi Shirai, Kenichi Kashimada, Tomohiro Morio: A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands. Front Endocrinol (Lausanne). 2022; 13 1033074. ( PubMed , DOI )

Hoshi Yurika, Shimizu Masaki, Shimbo Asami, Yamazaki Susumu, Mori Masaaki: Overt myositisをきたした全身性エリテマトーデスの女児1例(Overt myositis in a girl with systemic lupus erythematosus) Pediatrics International. 2022; 64 (1): ped.15338. ( 医中誌 )

Aoyagi Y, Kano Y, Tohyama K, Matsudera S, Kumaki Y, Takahashi K, Mitsumura T, Harada Y, Sato A, Nakamura H, Sueoka E, Aragane N, Kimura K, Onishi I, Takemoto A, Akahoshi K, Ono H, Ishikawa T, Tokunaga M, Nakagawa T, Oshima N, Nakamura R, Takagi M, Asakage T, Uetake H, Tanabe M, Miyake S, Kinugasa Y, Ikeda S: Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study. PloS one. 2022; 17 (3): e0266112. ( PubMed , DOI )

Tomohiro Tago, Tomonori Suzuki, Ayako Kashimada, Masatoshi Takagi, Tomoko Mizuno: Two case reports of KBG syndrome with Dandy-Walker variant. Pediatr Int. 2021.12; 63 (12): 1530-1532. ( PubMed , DOI )

Tsubasa Okano, Akira Nishimura, Kento Inoue, Takuya Naruto, Shown Tokoro, Takahiro Tomoda, Takahiro Kamiya, Asami Simbo, Yuko Akutsu, Keisuke Okamoto, Tzuwen Yeh, Takeshi Isoda, Masakatsu Yanagimachi, Michiko Kajiwara, Kohsuke Imai, Hirokazu Kanegane, Masaaki Mori, Tomohiro Morio, Masatoshi Takagi: Somatic mutation in RUNX1 underlies mucocutaneus inflammatory manifestations. Rheumatology (Oxford). 2021.12; 60 (12): e429-e431. ( PubMed , DOI )

Masanori Yoshida, Kazuhiko Nakabayashi, Wentao Yang, Aiko Sato-Otsubo, Shin-Ichi Tsujimoto, Hiroko Ogata-Kawata, Tomoko Kawai, Keisuke Ishiwata, Mika Sakamoto, Kohji Okamura, Kaoru Yoshida, Ryota Shirai, Tomoo Osumi, Takaya Moriyama, Rina Nishii, Hiroyuki Takahashi, Chikako Kiyotani, Yoko Shioda, Keita Terashima, Sae Ishimaru, Yuki Yuza, Masatoshi Takagi, Yuki Arakawa, Akitoshi Kinoshita, Moeko Hino, Toshihiko Imamura, Daisuke Hasegawa, Yozo Nakazawa, Mayuko Okuya, Harumi Kakuda, Nao Takasugi, Akiko Inoue, Kentaro Ohki, Takako Yoshioka, Shuichi Ito, Daisuke Tomizawa, Katsuyoshi Koh, Kimikazu Matsumoto, Masashi Sanada, Nobutaka Kiyokawa, Akira Ohara, Seishi Ogawa, Atsushi Manabe, Akira Niwa, Kenichiro Hata, Jun J Yang, Motohiro Kato: NUDT15 variants confer high incidence of second malignancies in children with acute lymphoblastic leukemia. Blood Adv. 2021.12; 5 (23): 5420-5428. ( PubMed , DOI )

Shimizu Masaki: 全身性若年性特発性関節炎におけるマクロファージ活性化症候群(Macrophage activation syndrome in systemic juvenile idiopathic arthritis) Immunological Medicine. 2021.12; 44 (4): 237-245. ( 医中誌 )

Tomomasa D, Isoda T, Mitsuiki N, Yamashita M, Morishita A, Tomoda T, Okano T, Endo A, Kamiya T, Yanagimachi M, Imai K, Kanegane H, Takagi M, Morio T : Successful ruxolitinib administration for a patient with steroid-refractory idiopathic pneumonia syndrome following hematopoietic stem cell transplantation: A case report and literature review. Clin Case Rep. 2021.12; 9 (12): e05242. ( PubMed , DOI )

Ishii T, Nawa N, Morio T, Fujiwara T: Association between nationwide introduction of public-access defibrillation and sudden cardiac death in Japan: An interrupted time-series analysis. International journal of cardiology. 2021.12; ( PubMed , DOI )

Togo Tomohiro, Suzuki Tomonori, Kashimada Ayako, Takagi Masatoshi, Mizuno Tomoko: Dandy-Walker variantを呈するKBG症候群の2症例報告(Two case reports of KBG syndrome with Dandy-Walker variant) Pediatrics International. 2021.12; 63 (12): 1530-1532. ( 医中誌 )

Dirk Roos, Karin van Leeuwen, Amy P Hsu, Debra Long Priel, Amber Begtrup, Rhonda Brandon, Amit Rawat, Pandiarajan Vignesh, Manesha Madkaikar, Marie José Stasia, Faris Ghalib Bakri, Martin de Boer, Joachim Roesler, Nezihe Köker, M Yavuz Köker, Marianne Jakobsen, Jacinta Bustamante, Maria Bravo Garcia-Morato, Juan Luis Valdivieso Shephard, Deniz Cagdas, Ilhan Tezcan, Roya Sherkat, Esmaeil Mortaz, Abbas Fayezi, Mohammad Shahrooei, Baruch Wolach, Lizbeth Blancas-Galicia, Hirokazu Kanegane, Toshinao Kawai, Antonio Condino-Neto, Mauno Vihinen, Christa S Zerbe, Steven M Holland, Harry L Malech, John I Gallin, Douglas B Kuhns: Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update). Blood Cells Mol Dis. 2021.12; 92 102596. ( PubMed , DOI )

Satoshi Inaba, Yuta Aizawa, Yuki Miwa, Chihaya Imai, Hidenori Ohnishi, Hirokazu Kanegane, Akihiko Saitoh: Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles. Front Immunol. 2021.12; 12 786164. ( PubMed , DOI )

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Hiroshi Nihira, Kazushi Izawa, Moeko Ito, Hiroaki Umebayashi, Tsubasa Okano, Shunsuke Kajikawa, Etsuro Nanishi, Dai Keino, Kosaku Murakami, Masahiko Isa-Nishitani, Takeshi Shiba, Yoshitaka Honda, Atsushi Hijikata, Tadateru Yasu, Tomohiro Kubota, Yoshinori Hasegawa, Yusuke Kawashima, Naoko Nakano, Hidetoshi Takada, Shouichi Ohga, Toshio Heike, Junko Takita, Osamu Ohara, Syuji Takei, Makio Takahashi, Hirokazu Kanegane, Tomohiro Morio, Sachiko Iwaki-Egawa, Yoji Sasahara, Ryuta Nishikomori, Takahiro Yasumi: Detailed Analysis of Japanese Patients with Adenosine Deaminase 2 Deficiency Reveals Characteristic Elevation of Type II Interferon Signature and STAT1 Hyperactivation. J Allergy Clin Immunol. 2021.08; 148 (2): 550-562. ( PubMed , DOI )

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Kana Unuma, Yohsuke Makino, Kouhei Yamamoto, Shinya Hattori, Nobutaka Arai, Kentaro Sakai, Masanobu Kitagawa, Koichi Uemura, Hirokazu Kanegane: Fatal intracranial hemorrhage due to infantile acute lymphoblastic leukemia mimicking abusive head trauma. J Forensic Sci. 2021.07; 66 (6): 2504-2510. ( PubMed , DOI )

Nakatani Hisae, Takasawa Kei, Kashimada Kenichi, Morimoto Akira, Oshiba Akihiro, Nagasawa Masayuki: 単骨型ランゲルハンス細胞組織球症の寛解から4年後に発症した6歳の中枢性尿崩症(Central diabetes insipidus developing in a 6-year-old patient 4 years after the remission of unifocal bone Langerhans cell histiocytosis) Clinical Pediatric Endocrinology. 2021.07; 30 (3): 149-153. ( 医中誌 )

Hisae Nakatani, Kei Takasawa, Kenichi Kashimada, Akira Morimoto, Akihiro Oshiba, Masayuki Nagasawa: Central diabetes insipidus developing in a 6-year-old patient 4 years after the remission of unifocal bone Langerhans cell histiocytosis. Clin Pediatr Endocrinol. 2021.07; 30 (3): 149-153. ( PubMed , DOI )

Yoichi Tanaka, Allen Eng Juh Yeoh, Takaya Moriyama, Chi-Kong Li, Ko Kudo, Yuki Arakawa, Jassada Buaboonnam, Hui Zhang, Hsi-Che Liu, Hany Ariffin, Zhiwei Chen, Shirley K Y Kham, Rina Nishii, Daisuke Hasegawa, Junya Fujimura, Dai Keino, Kensuke Kondoh, Atsushi Sato, Takahiro Ueda, Masaki Yamamoto, Yuichi Taneyama, Moeko Hino, Masatoshi Takagi, Akira Ohara, Etsuro Ito, Katsuyoshi Koh, Hiroki Hori, Atsushi Manabe, Jun J Yang, Motohiro Kato: An international retrospective study for tolerability of 6-mercaptopurine on NUDT15 bi-allelic variants in children with acute lymphoblastic leukemia. Haematologica. 2021.07; 106 (7): 2026-2029. ( PubMed , DOI )

Akira Nishimura, Yuki Aoki, Yasuyoshi Ishiwata, Takuya Ichimura, Junichi Ueyama, Yuta Kawahara, Takahiro Tomoda, Maiko Inoue, Kazuaki Matsumoto, Kento Inoue, Haruka Hiroki, Shintaro Ono, Motoi Yamashita, Tsubasa Okano, Mari Tanaka-Kubota, Miho Ashiarai, Satoshi Miyamoto, Reiji Miyawaki, Chika Yamagishi, Mari Tezuka, Teppei Okawa, Akihiro Hoshino, Akifumi Endo, Masato Yasuhara, Takahiro Kamiya, Noriko Mitsuiki, Toshiaki Ono, Takeshi Isoda, Masakatsu Yanagimachi, Daisuke Tomizawa, Masayuki Nagasawa, Shuki Mizutani, Michiko Kajiwara, Masatoshi Takagi, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio: Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases. J Clin Immunol. 2021.07; 41 (5): 944-957. ( PubMed , DOI )

Yusuke Imanaka, Maki Taniguchi, Takehiko Doi, Miyuki Tsumura, Rie Nagaoka, Maiko Shimomura, Takaki Asano, Reiko Kagawa, Yoko Mizoguchi, Shuhei Karakawa, Koji Arihiro, Kohsuke Imai, Tomohiro Morio, Jean-Laurent Casanova, Anne Puel, Osamu Ohara, Katsuhiko Kamei, Masao Kobayashi, Satoshi Okada: Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings J Clin Immunol. 2021.07; 41 (5): 975-986. ( PubMed , DOI )

Motoi Yamashita, Hye Sun Kuehn, Kazuki Okuyama, Satoshi Okada, Yuzaburo Inoue, Noriko Mitsuiki, Kohsuke Imai, Masatoshi Takagi, Hirokazu Kanegane, Masahiro Takeuchi, Naoki Shimojo, Miyuki Tsumura, Aditya K Padhi, Kam Y J Zhang, Bertrand Boisson, Jean-Laurent Casanova, Osamu Ohara, Sergio D Rosenzweig, Ichiro Taniuchi, Tomohiro Morio: A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS Nat Immunol. 2021.07; 22 (7): 893-903. ( PubMed , DOI )

Asami Shimbo, Yuko Akutsu, Susumu Yamazaki, Masaki Shimizu, Masaaki Mori: Giant Iliopsoas Bursitis in Systemic Juvenile Idiopathic Arthritis. Arthritis Rheumatol. 2021.07; 73 (7): 1328. ( PubMed , DOI )

Masaki Shimizu, Asami Shimbo, Masatoshi Takagi, Katsuhide Eguchi, Masataka Ishimura, Junichi Sugita, Tomohiro Morio, Hirokazu Kanegane: Successful treatment of joint and fascial chronic graft-versus-host disease with baricitinib. Rheumatology (Oxford). 2021.07; ( PubMed , DOI )

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Michinori Funato, Yukiko Tsunematsu, Fumito Yamazaki, Chieko Tamura, Tadashi Kumamoto, Masatoshi Takagi, Shunsuke Kato, Haruhiko Sugimura, Kazuo Tamura: Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT. Cancer Sci. 2021.05; 112 (7): 2821-2834. ( PubMed , DOI , 医中誌 )

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Fujita Yuji, Sato Yuya, Takagi Yuhi, Nakazato Yoshimasa, Shimizu Masaki, Mori Masaaki, Yoshihara Shigemi: Hemophagocytic lymphohistiocytosis associated with primary cutaneous gamma-delta T-cell lymphoma presenting with subcutaneous panniculitis in a 12-year-old girl PEDIATRIC BLOOD & CANCER. 2021.03; e29035. ( PubMed , DOI )

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Maki Gau, Kaoru Konishi, Kei Takasawa, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, Atsuko Hashimoto, Akito Sutani, Toshihiro Tajima, Tomonobu Hasegawa, Tomohiro Morio, Kenichi Kashimada: The progression of salt-wasting and the body weight change during the first 2 weeks of life in classical 21-hydroxylase deficiency patients. Clin Endocrinol (Oxf). 2021.02; 94 (2): 229-236. ( PubMed , DOI )

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Masaki Shimizu, Natsumi Inoue, Mao Mizuta, Hitoshi Irabu, Michiko Okajima, Yoshitaka Honda, Hiroshi Nihira, Kazushi Izawa, Akihiro Yachie, Taizo Wada: Successful treatment of spondyloenchondrodysplasia with baricitinib. Rheumatology (Oxford). 2021.02; 60 (2): e44-e46. ( PubMed , DOI )

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Ziqing Ye, Wenhui Hu, Bingbing Wu, Yueping Zhang, Caixia Lei, Isabelle Williams, Dror S Shouval, Hirokazu Kanegane, Kyung Mo Kim, Lissy de Ridder, Neil Shah, Galina Ling, Baruch Yerushalmi, Daniel Kotlarz, Scott Snapper, Ruth Horn, Christoph Klein, Aleixo M Muise, Ying Huang, Holm H Uhlig: Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects. J Pediatr Gastroenterol Nutr. 2021.02; 72 (2): 276-281. ( PubMed , DOI )

Mizuno T, Miyata R, Hojo A, Tamura Y, Nakashima M, Mizuguchi T, Matsumoto N, Kato M: Clinical variations of epileptic syndrome associated with PACS2 variant. Brain & development. 2021.02; 43 (2): 343-347. ( PubMed , DOI )

Hitoshi Irabu, Masaki Shimizu, Shuya Kaneko, Natsumi Inoue, Mao Mizuta, Yuko Tasaki, Kazuhide Ohta, Akihiro Yachie, Taizo Wada: Apoptosis inhibitor of macrophage as a biomarker for disease activity in Japanese children with IgA nephropathy and Henoch-Schönlein purpura nephritis. Pediatr Res. 2021.02; 89 (3): 667-672. ( PubMed , DOI )

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Hayashi H, Uda K, Akamine K, Kawata N, Akahoshi S, Shimizu M, Horikoshi Y, Hataya H: A 15-Month-old Boy With Kawasaki Disease-like Symptoms. The Pediatric infectious disease journal. 2021.02; 40 (2): 173-174. ( PubMed , DOI )

Tao Qin, Yanjun Jia, Yuhang Liu, Rongxin Dai, Lina Zhou, Satoshi Okada, Miyuki Tsumura, Hidenori Ohnishi, Zenichiro Kato, Hirokazu Kanegane, Xiulian Sun, Xiaodong Zhao: A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency. Front Immunol. 2021.02; 11 517544. ( PubMed , DOI )

Yamazaki S, Akutsu Y, Shimbo A, Shimizu M, Segawa Y, Mori M: Childhood-onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report. Pediatric rheumatology online journal. 2021.02; 19 (1): 20. ( PubMed , DOI )

Rawat A, Jindal AK, Suri D, Vignesh P, Gupta A, Saikia B, Minz RW, Banday AZ, Tyagi R, Arora K, Joshi V, Mondal S, Shandilya JK, Sharma M, Desai M, Taur P, Pandrowala A, Gowri V, Sawant-Desai S, Gupta M, Dalvi AD, Madkaikar M, Aggarwal A, Raj R, Uppuluri R, Bhattad S, Jayaram A, Lashkari HP, Rajasekhar L, Munirathnam D, Kalra M, Shukla A, Saka R, Sharma R, Garg R, Imai K, Nonoyama S, Ohara O, Lee PP, Chan KW, Lau YL, Singh S.: Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India. Front Immunol. 2021.01; 11 612323. ( PubMed , DOI )

Miyazaki H, Hoshi N, Kohashi M, Tokunaga E, Ku Y, Takenaka H, Ooi M, Yamamoto N, Uemura S, Nishimura N, Iijima K, Jimbo K, Okano T, Hoshino A, Imai K, Kanegane H, Kobayashi I, Kodama Y.: A case of autoimmune enteropathy with CTLA4 haploinsufficiency. Intest Res. 2021.01; ( PubMed , DOI )

Kenichi Nishimura, Ryoki Hara, Hiroaki Umebayashi, Syuji Takei, Naomi Iwata, Tomoyuki Imagawa, Masaki Shimizu, Minako Tomiita, Noriko Seko, Tetsuji Kitawaki, Shumpei Yokota: Efficacy and safety of canakinumab in systemic juvenile idiopathic arthritis: 48-week results from an open-label phase III study in Japanese patients. Mod Rheumatol. 2021.01; 31 (1): 226-234. ( PubMed , DOI )

Mao Mizuta, Masaki Shimizu, Hitoshi Irabu, Masaaki Usami, Natsumi Inoue, Yasuo Nakagishi, Taizo Wada, Akihiro Yachie: Comparison of serum cytokine profiles in macrophage activation syndrome complicating different background rheumatic diseases in children. Rheumatology (Oxford). 2021.01; 60 (1): 231-238. ( PubMed , DOI )

Maiko Inoue, Takeshi Isoda, Motoi Yamashita, Takahiro Tomoda, Kento Inoue, Tsubasa Okano, Teppei Ohkawa, Akifumi Endo, Noriko Mitsuiki, Takahiro Kamiya, Masakatsu Yanagimachi, Kouhei Yamamoto, Yuichiro Inaba, Toru Sasaki, Masatoshi Takagi, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio: Cytomegalovirus Laryngitis in Primary Combined Immunodeficiency Diseases. J Clin Immunol. 2021.01; 41 (1): 243-247. ( PubMed , DOI )

Suri D, Rikhi R, Jindal AK, Rawat A, Sudhakar M, Vignesh P, Gupta A, Kaur A, Sharma J, Ahluwalia J, Bhatia P, Khadwal A, Raj R, Uppuluri R, Desai M, Taur P, Pandrowala AA, Gowri V, Madkaikar MR, Lashkari HP, Bhattad S, Kumar H, Verma S, Imai K, Nonoyama S, Ohara O, Chan KW, Lee PP, Lau YL, Singh S.: Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India. Front Immunol. 2021; 12 627651. ( PubMed , DOI )

Matsuda Nozomi, Takasawa Kei, Ohata Yasuhisa, Takishima Shigeru, Kubota Takuo, Ishihara Yasuki, Fujiwara Makoto, Ogawa Erika, Morio Tomohiro, Kashimada Kenichi, Ozono Keiichi: 低ホスファターゼ症の表現型に対するアルカリホスファターゼ(ALPL)一塩基多型(c.787T>C)の潜在的な病理学的役割(Potential pathological role of single nucleotide polymorphism(c.787T>C) in alkaline phosphatase(ALPL) for the phenotypes of hypophosphatasia) Endocrine Journal. 2020.12; 67 (12): 1227-1232. ( 医中誌 )

Tomomasa Dan, Isoda Takeshi, Yamashita Motoi, Morishita Aoi, Mitsuiki Noriko, Kamiya Takahiro, Imai Kohsuke, Kanegane Hirokazu, Takagi Masatoshi, Morio Tomohiro: Ruxolitinib Administration for Two Cases with Steroid-Refractory Lung GVHD PEDIATRIC BLOOD & CANCER. 2020.12; 67

Hoshina Yumika, Kirino Shizuka, Tomoda Takahiro, Yamashita Motoi, Okano Tsubasa, Kamiya Takahiro, Takagi Masatoshi, Imai Kohsuke, Kanegane Hirokazu, Morio Tomohiro: Salvage Haploidentical Bone Marrow Transplant Using Post-Transplant Cyclophosphamide for Graft Failure in a Patient with EDA-ID due to NEMO Deficiency PEDIATRIC BLOOD & CANCER. 2020.12; 67

Nishiyama Yohei, Toyofuku Etsushi, Okano Tsubasa, Yamashita Motoi, Kamiya Takahiro, Endo Akifumi, Kanegane Hirokazu, Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro: Pediatric Hodgkin's Lymphoma Subsequently Diagnosed as Common Variable Immunodeficiency with FAS Mutation PEDIATRIC BLOOD & CANCER. 2020.12; 67

Endo Akifumi, Yamashita Motoi, Kamiya Takahiro, Mitsuiki Noriko, Isoda Takeshi, Imai Kohsuke, Takagi Masatoshi, Kajiwara Michiko, Kanegane Hirokazu, Morio Tomohiro: A Retrospective Study of Six Cases of HLA Haplo-Identical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide PEDIATRIC BLOOD & CANCER. 2020.12; 67

Ono Shintaro, Kamiya Takahiro, Yanagimachi Masakatsu, Imamura Toshihiko, Sasahara Yoji, Sugita Junichi, Imai Kohsuke, Morio Tomohiro, Kato Motohiro, Kanegane Hirokazu: Inflammatory Bowel Disease Associated with XIAP Deficiency can be Cured by Allogeneic Hematopoietic Cell Transplantation PEDIATRIC BLOOD & CANCER. 2020.12; 67

Endo Akifumi, Yamashita Motoi, Kamiya Takahiro, Mitsuiki Noriko, Isoda Takeshi, Imai Kohsuke, Takagi Masatoshi, Kajiwara Michiko, Kanegane Hirokazu, Morio Tomohiro: A Retrospective Study of Six Cases of HLA Haplo-Identical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide PEDIATRIC BLOOD & CANCER. 2020.12; 67

Tomoda Takahiro, Kamiya Takahiro, Okano Tsubasa, Ashiarai Miho, Yoshihara Hiroki, Imai Kohsuke, Kanegane Hirokazu, Takagi Masatoshi, Hasegawa Daisuke, Morio Tomohiro: A Case of Relapsed Infant ALL with MLL Rearrangement Who Underwent CAR-T Cell Therapy PEDIATRIC BLOOD & CANCER. 2020.12; 67

Chiaki Hosoda, Takashi Ishiguro, Yoshihiko Shimizu, Hirokazu Kanegane, Noboru Takayanagi: Mycobacterium genavense Infection Presenting as an Endobronchial Polyp and Upper Lobe Atelectasis. Am J Respir Crit Care Med. 2020.12; 202 (11): e144-e145. ( PubMed , DOI )

Isoda Takeshi, Nishimura Akira, Morio Tomohiro, Takagi Masatoshi: Non-Coding RNA ThymoD Transcription Specifies T-Cell Fate and Inhibits T-Cell Malignancies PEDIATRIC BLOOD & CANCER. 2020.12; 67

Endo Akifumi, Yamashita Motoi, Kamiya Takahiro, Mitsuiki Noriko, Isoda Takeshi, Imai Kohsuke, Takagi Masatoshi, Kajiwara Michiko, Kanegane Hirokazu, Morio Tomohiro: A Retrospective Study of Six Cases of HLA Haplo-Identical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide PEDIATRIC BLOOD & CANCER. 2020.12; 67

Tomomasa Dan, Isoda Takeshi, Yamashita Motoi, Morishita Aoi, Mitsuiki Noriko, Kamiya Takahiro, Imai Kohsuke, Kanegane Hirokazu, Takagi Masatoshi, Morio Tomohiro: Ruxolitinib Administration for Two Cases with Steroid-Refractory Lung GVHD PEDIATRIC BLOOD & CANCER. 2020.12; 67

Yamanouchi S, Yamagishi M, Kaneko S, Shimizu M, Kaneko K: Dysregulation of angiopoietin-1 and angiopoietin-2 in an infant with fatal Clarkson disease. Pediatrics international : official journal of the Japan Pediatric Society. 2020.12; 62 (12): 1400-1401. ( PubMed , DOI )

Sugawara Y, Mizuno T, Moriyama K, Ishiwata H, Kato M, Nakashima M, Mizuguchi T, Matsumoto N: Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant. Neurology. Genetics. 2020.12; 6 (6): e527. ( PubMed , DOI )

Nozomi Matsuda, Kei Takasawa, Yasuhisa Ohata, Shigeru Takishima, Takuo Kubota, Yasuki Ishihara, Makoto Fujiwara, Erika Ogawa, Tomohiro Morio, Kenichi Kashimada, Keiichi Ozono: Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia Endocr. J.. 2020.12; 67 (12): 1227-1232. ( PubMed , DOI )

Masanori Yoshida, Kanako Tanase-Nakao, Hirohito Shima, Ryota Shirai, Kaoru Yoshida, Tomoo Osumi, Takao Deguchi, Makiko Mori, Yuki Arakawa, Masatoshi Takagi, Takako Miyamura, Kimiyoshi Sakaguchi, Hidemi Toyoda, Hisashi Ishida, Naoki Sakata, Toshihiko Imamura, Yuta Kawahara, Akira Morimoto, Takashi Koike, Hiroshi Yagasaki, Shuichi Ito, Daisuke Tomizawa, Nobutaka Kiyokawa, Satoshi Narumi, Motohiro Kato: Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7. Br J Haematol. 2020.12; 191 (5): 835-843. ( PubMed , DOI )

Matsuda T, Kambe N, Ueki Y, Kanazawa N, Izawa K, Honda Y, Kawakami A, Takei S, Tonomura K, Inoue M, Kobayashi H, Okafuji I, Sakurai Y, Kato N, Maruyama Y, Inoue Y, Otsubo Y, Makino T, Okada S, Kobayashi I, Yashiro M, Ito S, Fujii H, Kondo Y, Okamoto N, Ito S, Iwata N, Kaneko U, Doi M, Hosokawa J, Ohara O, Saito MK, Nishikomori R; PIDJ members in the JSIAD; PIDJ (Primary Immunodeficiency and Autoinflammatory Diseases Database Project) members in the JSIAD (Japanese Society for Immunodeficiency and Autoinflammatory Diseases): Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation Ann Rheum Dis. 2020.11; 79 (11): 1492-1499. ( PubMed , DOI )

Kaneda Tomoya, Tanaka Eriko, Akutsu Yuko, Kanamori Toru, Mouri Mariko, Morio Tomohiro, Mori Masaaki: 全身性エリテマトーデス患児における腎障害を伴う続発性の難治性血栓性微小血管障害症(Refractory secondary thrombotic microangiopathy with kidney injury associated with systemic lupus erythematosus in a pediatric patient) CEN Case Reports. 2020.11; 9 (4): 301-307. ( 医中誌 )

Kenji Okada, Mihoko Mizuno, Hiroyuki Moriuchi, Satoshi Kusuda, Ichiro Morioka, Masaaki Mori, Keisuke Okamoto, Kuniyuki Okada, Shigemi Yoshihara, Hiroyuki Yamagishi, Utako Yokoyama, Tomohiro Kubota, Kazuko Kudo, Masatoshi Takagi, Shuichi Ito, Yutaka Kanamori, Yoji Sasahara: The Working Group for Revision of "Guidelines for the Use of Palivizumab in Japan": A Committee Report. Pediatr Int. 2020.11; 62 (11): 1223-1229. ( PubMed , DOI )

Hoshino A, Xi Y, Nakao T, Kato K, Fujiyama S, Koh K, Imamura T, Kanegane H.: A Cry for the Development of Newborn Screening for Familial Hemophagocytic Lymphohistiocytosis. J Clin Immunol. 2020.11; 40 (8): 1196-1198. ( PubMed , DOI )

Inoue K, Sasaki S, Yasumi T, Imai K, Kusunoki T, Morio T, Kanegane H: Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia J Clin Immunol. 2020.11; 40 (8): 1132-1137. ( PubMed , DOI )

Kazuaki Matsumoto, Akihiro Hoshino, Akira Nishimura, Tamaki Kato, Yoshio Mori, Masaki Shimomura, Chie Naito, Kenichiro Watanabe, Minoru Hamazaki, Noriko Mitsuiki, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Hirokazu Kanegane, Tomohiro Morio: DNA Ligase IV Deficiency Identified by Chance Following Vaccine-Derived Rubella Virus Infection. J Clin Immunol. 2020.11; 40 (8): 1187-1190. ( PubMed , DOI )

Tzu-Wen Yeh, Tsubasa Okano, Takuya Naruto, Motoi Yamashita, Miko Okamura, Kay Tanita, Likun Du, Qiang Pan-Hammarström, Noriko Mitsuiki, Satoshi Okada, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio: APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans. J Allergy Clin Immunol. 2020.11; 146 (5): 1109-1120.e4. ( PubMed , DOI )

Mizuta M, Shimizu M, Inoue N, Ikawa Y, Nakagishi Y, Yasuoka R, Iwata N, Yachie A: Clinical significance of interleukin-18 for the diagnosis and prediction of disease course in systemic juvenile idiopathic arthritis. Rheumatology (Oxford, England). 2020.11; ( PubMed , DOI )

Osumi T, Yoshimura S, Sako M, Uchiyama T, Ishikawa T, Kawai T, Inoue E, Takimoto T, Takeuchi I, Yamada M, Sakamoto K, Yoshida K, Kimura Y, Matsukawa Y, Matsumoto K, Imadome KI, Arai K, Deguchi T, Imai K, Yuza Y, Matsumoto K, Onodera M, Kanegane H, Tomizawa D, Kato M.: A prospective study of allogeneic hematopoietic stem cell transplantation with post-transplantation cyclophosphamide and anti-thymoglobulin from HLA-mismatched related donors for non-malignant diseases. Biol. Blood Marrow Transplant.. 2020.11; 26 (11): e286-e291. ( PubMed , DOI )

Okada Kenji, Mizuno Mihoko, Moriuchi Hiroyuki, Kusuda Satoshi, Morioka Ichiro, Mori Masaaki, Okamoto Keisuke, Okada Kuniyuki, Yoshihara Shigemi, Yamagishi Hiroyuki, Yokoyama Utako, Kubota Tomohiro, Kudo Kazuko, Takagi Masatoshi, Ito Shuichi, Kanamori Yutaka, Sasahara Yoji, Japan Pediatric Society, Japan Society for Neonatal Health and Development, Japanese Society for Pediatric Infectious Diseases, Pediatric Rheumatology Association of Japan, Japanese Society of Pediatric Pulmonology, Japanese Society of Pediatric Cardiology and Cardiac Surgery, The Japanese Society of Pediatric Hematology/Oncology, Japanese Society for Pediatric Nephrology, The Japanese Society of Pediatric Surgeons, Japanese Society for Immunodeficiency and Autoinflammatory Diseases: 「日本におけるパリビズマブの使用に関するガイドライン」改訂検討ワーキンググループ　委員会報告(The Working Group for Revision of "Guidelines for the Use of Palivizumab in Japan": A Committee Report) Pediatrics International. 2020.11; 62 (11): 1223-1229. ( 医中誌 )

Jessica Tibaldi, Angela Pistorio, Elena Aldera, Laura Puzone, Yasser El Miedany, Priyankar Pal, Prabhas Prasun Giri, Hriday De, Raju Khubchandani, Pallavi Pimpale Chavan, Soamarat Vilaiyuk, Butsabong Lerkvaleekul, Jutamas Yamsuwan, Tapas K Sabui, Pragati Datta, Manuela Pardeo, Claudia Bracaglia, Sujata Sawhney, Sumidha Mittal, Waleed A Hassan, Ghada Farouk Elderiny, Mohammed Hassan Abu-Zaid, Mervat Eissa, Flavio Sztajnbok, Fernanda C das Neves Sztajnbok, Ricardo Russo, María Martha Katsicas, Rolando Cimaz, Edoardo Marrani, Ekaterina Alexeeva, Tatyana M Dvoryakovskaya, Motasem O Alsuweiti, Ra'ed M Alzyoud, Mikhail Kostik, Irina Chikova, Francesca Minoia, Giovanni Filocamo, Yomna Farag, Hala Lotfy, Samah Ismail Nasef, Sulaiman M Al-Mayouf, Maria Cristina Maggio, Claudia Saad Magalhaes, Romina Gallizzi, Giovanni Conti, Masaki Shimizu, Adele Civino, Enrico Felici, Gabriella Giancane, Nicolino Ruperto, Alessandro Consolaro, Angelo Ravelli: Development and initial validation of a composite disease activity score for systemic juvenile idiopathic arthritis. Rheumatology (Oxford). 2020.11; 59 (11): 3505-3514. ( PubMed , DOI )

Sato S, Ohnishi T, Uejima Y, Furuichi M, Fujinaga S, Imai K, Nakamura K, Kawano Y, Suganuma E.: Induction therapy with rituximab for lupus nephritis due to prolidase deficiency. Rheumatology (Oxford). 2020.10; 59 (10): e57-e59. ( PubMed , DOI )

Jose Carlo Miguel M Villanueva, Koon-Wing Chan, Remedios C Ong, Agnes G Andaya, Yu-Lung Lau, Menno C van Zelm, Hirokazu Kanegane: Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines. Front Pediatr. 2020.10; 8 604725. ( PubMed , DOI )

Tsukasa Tanaka, Masaki Shimizu, Oshi Tokuda, Hiroko Yamamoto, Natsuki Matsunoshita, Kanae Takenaka, Keiichiro Kawasaki: Kawasaki Disease with an Initial Manifestation Mimicking Bacterial Inguinal Cellulitis Case Reports in Pediatrics. 2020.10;

Paul Bastard, Lindsey B Rosen, Qian Zhang, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Yu Zhang, Karim Dorgham, Quentin Philippot, Jérémie Rosain, Vivien Béziat, Jérémy Manry, Elana Shaw, Liis Haljasmägi, Pärt Peterson, Lazaro Lorenzo, Lucy Bizien, Sophie Trouillet-Assant, Kerry Dobbs, Adriana Almeida de Jesus, Alexandre Belot, Anne Kallaste, Emilie Catherinot, Yacine Tandjaoui-Lambiotte, Jeremie Le Pen, Gaspard Kerner, Benedetta Bigio, Yoann Seeleuthner, Rui Yang, Alexandre Bolze, András N Spaan, Ottavia M Delmonte, Michael S Abers, Alessandro Aiuti, Giorgio Casari, Vito Lampasona, Lorenzo Piemonti, Fabio Ciceri, Kaya Bilguvar, Richard P Lifton, Marc Vasse, David M Smadja, Mélanie Migaud, Jérome Hadjadj, Benjamin Terrier, Darragh Duffy, Lluis Quintana-Murci, Diederik van de Beek, Lucie Roussel, Donald C Vinh, Stuart G Tangye, Filomeen Haerynck, David Dalmau, Javier Martinez-Picado, Petter Brodin, Michel C Nussenzweig, Stéphanie Boisson-Dupuis, Carlos Rodríguez-Gallego, Guillaume Vogt, Trine H Mogensen, Andrew J Oler, Jingwen Gu, Peter D Burbelo, Jeffrey I Cohen, Andrea Biondi, Laura Rachele Bettini, Mariella D'Angio, Paolo Bonfanti, Patrick Rossignol, Julien Mayaux, Frédéric Rieux-Laucat, Eystein S Husebye, Francesca Fusco, Matilde Valeria Ursini, Luisa Imberti, Alessandra Sottini, Simone Paghera, Eugenia Quiros-Roldan, Camillo Rossi, Riccardo Castagnoli, Daniela Montagna, Amelia Licari, Gian Luigi Marseglia, Xavier Duval, Jade Ghosn, , , , , , , , , , , John S Tsang, Raphaela Goldbach-Mansky, Kai Kisand, Michail S Lionakis, Anne Puel, Shen-Ying Zhang, Steven M Holland, Guy Gorochov, Emmanuelle Jouanguy, Charles M Rice, Aurélie Cobat, Luigi D Notarangelo, Laurent Abel, Helen C Su, Jean-Laurent Casanova: Autoantibodies against type I IFNs in patients with life-threatening COVID-19 Science. 2020.10; 370 (6515): ( PubMed , DOI )

Qian Zhang, Paul Bastard, Zhiyong Liu, Jérémie Le Pen, Marcela Moncada-Velez, Jie Chen, Masato Ogishi, Ira K D Sabli, Stephanie Hodeib, Cecilia Korol, Jérémie Rosain, Kaya Bilguvar, Junqiang Ye, Alexandre Bolze, Benedetta Bigio, Rui Yang, Andrés Augusto Arias, Qinhua Zhou, Yu Zhang, Fanny Onodi, Sarantis Korniotis, Léa Karpf, Quentin Philippot, Marwa Chbihi, Lucie Bonnet-Madin, Karim Dorgham, Nikaïa Smith, William M Schneider, Brandon S Razooky, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Leen Moens, Ji Eun Han, Lazaro Lorenzo, Lucy Bizien, Philip Meade, Anna-Lena Neehus, Aileen Camille Ugurbil, Aurélien Corneau, Gaspard Kerner, Peng Zhang, Franck Rapaport, Yoann Seeleuthner, Jeremy Manry, Cecile Masson, Yohann Schmitt, Agatha Schlüter, Tom Le Voyer, Taushif Khan, Juan Li, Jacques Fellay, Lucie Roussel, Mohammad Shahrooei, Mohammed F Alosaimi, Davood Mansouri, Haya Al-Saud, Fahd Al-Mulla, Feras Almourfi, Saleh Zaid Al-Muhsen, Fahad Alsohime, Saeed Al Turki, Rana Hasanato, Diederik van de Beek, Andrea Biondi, Laura Rachele Bettini, Mariella D'Angio', Paolo Bonfanti, Luisa Imberti, Alessandra Sottini, Simone Paghera, Eugenia Quiros-Roldan, Camillo Rossi, Andrew J Oler, Miranda F Tompkins, Camille Alba, Isabelle Vandernoot, Jean-Christophe Goffard, Guillaume Smits, Isabelle Migeotte, Filomeen Haerynck, Pere Soler-Palacin, Andrea Martin-Nalda, Roger Colobran, Pierre-Emmanuel Morange, Sevgi Keles, Fatma Çölkesen, Tayfun Ozcelik, Kadriye Kart Yasar, Sevtap Senoglu, Şemsi Nur Karabela, Carlos Rodríguez-Gallego, Giuseppe Novelli, Sami Hraiech, Yacine Tandjaoui-Lambiotte, Xavier Duval, Cédric Laouénan, , , , , , , , , Andrew L Snow, Clifton L Dalgard, Joshua D Milner, Donald C Vinh, Trine H Mogensen, Nico Marr, András N Spaan, Bertrand Boisson, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Anne Puel, Michael J Ciancanelli, Isabelle Meyts, Tom Maniatis, Vassili Soumelis, Ali Amara, Michel Nussenzweig, Adolfo García-Sastre, Florian Krammer, Aurora Pujol, Darragh Duffy, Richard P Lifton, Shen-Ying Zhang, Guy Gorochov, Vivien Béziat, Emmanuelle Jouanguy, Vanessa Sancho-Shimizu, Charles M Rice, Laurent Abel, Luigi D Notarangelo, Aurélie Cobat, Helen C Su, Jean-Laurent Casanova: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Science. 2020.10; 370 (6515): ( PubMed , DOI )

Ono Shintaro, Kamiya Takahiro, Yanagimachi Masakatsu, Imamura Toshihiko, Sasahara Yoji, Sugita Junichi, Imai Kohsuke, Morio Tomohiro, Kato Motohiro, Kanegane Hirokazu: 造血細胞移植によるXIAP欠損症関連炎症性腸疾患の治療(Inflammatory bowel disease associated with XIAP deficiency can be cured by allogeneic hematopoietic cell transplantation) 日本小児血液・がん学会雑誌. 2020.10; 57 (4): 207. ( 医中誌 )

Tomoda Takahiro, Kamiya Takahiro, Okano Tsubasa, Ashiarai Miho, Yoshihara Hiroki, Imai Kohsuke, Kanegane Hirokazu, Takagi Masatoshi, Hasegawa Daisuke, Morio Tomohiro: 再発性MLL遺伝子再構成陽性乳児急性リンパ性白血病に対しCAR-T療法を施行した一例(A case of relapsed infant ALL with MLL rearrangement who underwent CAR-T cell therapy) 日本小児血液・がん学会雑誌. 2020.10; 57 (4): 292. ( 医中誌 )

Nishiyama Yohei, Toyofuku Etsushi, Okano Tsubasa, Yamashita Motoi, Kamiya Takahiro, Endo Akifumi, Kanegane Hirokazu, Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro: 小児期にホジキンリンパ腫を発症し、成人後に免疫グロブリン低下を指摘されALPS-FASと診断された一例(Pediatric Hodgkin's lymphoma subsequently diagnosed as common variable immunodeficiency with FAS mutation) 日本小児血液・がん学会雑誌. 2020.10; 57 (4): 227. ( 医中誌 )

Tomomasa Dan, Isoda Takeshi, Yamashita Motoi, Morishita Aoi, Mitsuiki Noriko, Kamiya Takahiro, Imai Kohsuke, Kanegane Hirokazu, Takagi Masatoshi, Morio Tomohiro: ステロイド抵抗性肺GVHDに対してルキソリチニブを使用した2例(Ruxolitinib administration for two cases with steroid-refractory lung GVHD) 日本小児血液・がん学会雑誌. 2020.10; 57 (4): 260. ( 医中誌 )

Endo Akifumi, Yamashita Motoi, Kamiya Takahiro, Mitsuiki Noriko, Isoda Takeshi, Imai Kohsuke, Takagi Masatoshi, Kajiwara Michiko, Kanegane Hirokazu, Morio Tomohiro: PTCyハプロ移植症例の6例の後方視的検討(A retrospective study of six cases of HLA haplo-identical hematopoietic stem cell transplantation with Post-Transplant Cyclophosphamide) 日本小児血液・がん学会雑誌. 2020.10; 57 (4): 265. ( 医中誌 )

Hoshina Yumika, Kirino Shizuka, Tomoda Takahiro, Yamashita Motoi, Okano Tsubasa, Kamiya Takahiro, Takagi Masatoshi, Imai Kohsuke, Kanegane Hirokazu, Morio Tomohiro: NEMO異常症の骨髄移植後二次性生着不全に対するPTCy法を用いたHLA半合致サルベージ移植(Salvage haploidentical bone marrow transplant using post-transplant cyclophosphamide for graft failure in a patient with EDA-ID due to NEMO deficiency) 日本小児血液・がん学会雑誌. 2020.10; 57 (4): 207. ( 医中誌 )

Takeru Yamauchi, Masatoshi Imamura, Kei Takasawa, Keisuke Nakajima, Ryuichi Nakagawa, Maki Gau, Manabu Sugie, Atsuko Taki, Masahiko Kawai, Kenichi Kashimada, Tomohiro Morio: Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants Endocrine. 2020.10; 70 (1): 71-77. ( PubMed , DOI )

Kazuki Nemoto, Toshinori Kawanami, Takayuki Hoshina, Masataka Ishimura, Kei Yamasaki, Satoshi Okada, Hirokazu Kanegane, Kazuhiro Yatera, Koichi Kusuhara: Impaired B-Cell Differentiation in a Patient With STAT1 Front Immunol. 2020.09; 11 557521. ( PubMed , DOI )

Takashi Uchida, Tasuku Suzuki, Atsuo Kikuchi, Fumihiko Kakuta, Takashi Ishige, Yoshiko Nakayama, Hirokazu Kanegane, Yuri Etani, Tatsuki Mizuochi, Shin-Ichi Fujiwara, Ryusuke Nambu, Kazuhide Suyama, Masanori Tanaka, Atsushi Yoden, Daiki Abukawa, Yoji Sasahara, Shigeo Kure: Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea. J Pediatr Gastroenterol Nutr. 2020.09; 71 (3): 333-339. ( PubMed , DOI )

Sonoko Sakata, Miyuki Tsumura, Tadashi Matsubayashi, Shuhei Karakawa, Shunsuke Kimura, Moe Tamaura, Tsubasa Okano, Takuya Naruto, Yoko Mizoguchi, Reiko Kagawa, Shiho Nishimura, Kohsuke Imai, Tom Le Voyer, Jean-Laurent Casanova, Jacinta Bustamante, Tomohiro Morio, Osamu Ohara, Masao Kobayashi, Satoshi Okada: Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations Int Immunol.. 2020.09; 32 (10): 663-671. ( PubMed , DOI )

Yasushi Kasahara, Masaru Imamura, Chansu Shin, Hiroshi Shimizu, Jirou Utsumi, Ryosuke Hosokai, Haruko Iwabuchi, Takayuki Takachi, Akiyoshi Kakita, Hirokazu Kanegane, Akihiko Saitoh, Chihaya Imai: Fatal Progressive Meningoencephalitis Diagnosed in Two Members of a Family With X-Linked Agammaglobulinemia. Front Pediatr. 2020.09; 8 579. ( PubMed , DOI )

Tomoya Kaneda, Eriko Tanaka, Yuko Akutsu, Toru Kanamori, Mariko Mouri, Tomohiro Morio, Masaaki Mori: Refractory secondary thrombotic microangiopathy with kidney injury associated with systemic lupus erythematosus in a pediatric patient CEN Case Rep. 2020.09; 9 (4): 301-307. ( PubMed , DOI )

Ida H, Maruyama D, Maeshima AM, Kamiya T, Morio T, Izutsu K: Duodenal nodular lymphoid hyperplasia in a patient with IgA deficiency Clin Case Rep. 2020.09; 8 (12): 3594-3595. ( PubMed , DOI )

Yatsuga Shuichi, Amano Naoko, Nakamura-Utsunomiya Akari, Kobayashi Hironori, Takasawa Kei, Nagasaki Keisuke, Nakamura Akie, Nishigaki Satsuki, Numakura Chikahiko, Fujiwara Ikuma, Minamitani Kanshi, Hasegawa Tomonobu, Tajima Toshihiro: チトクロームP450酸化還元酵素欠損症の臨床的特徴　日本で行った全国調査(Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan) Endocrine Journal. 2020.08; 67 (8): 853-857. ( 医中誌 )

Daniel Leung, Gilbert T Chua, Alric V Mondragon, Youjia Zhong, Le Nguyen-Ngoc-Quynh, Kohsuke Imai, Pandiarajan Vignesh, Narissara Suratannon, Huawei Mao, Wen-I Lee, Yae-Jean Kim, Godfrey C F Chan, Woei Kang Liew, Le Thi Minh Huong, Hirokazu Kanegane, Dina Muktiarti, Xiaodong Zhao, Fatima Johanna Santos-Ocampo, Amir Hamzah Abdul Latiff, Reinhard Seger, Hans D Ochs, Surjit Singh, Pamela P Lee, Yu Lung Lau: Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific. Front Immunol. 2020.08; 11 1605. ( PubMed , DOI )

Futaba Miyaoka, Etsushi Toyofuku, Takeshi Isoda, Tomohiro Moiro, Hirokazu Kanegane: Influenza-induced hemolytic crisis in glucose-6-phosphate dehydrogenase deficiency. Pediatr Int. 2020.08; 62 (8): 1003-1004. ( PubMed , DOI )

Yatsuga Shuichi, Amano Naoko, Nakamura-Utsunomiya Akari, Kobayashi Hironori, Takasawa Kei, Nagasaki Keisuke, Nakamura Akie, Nishigaki Satsuki, Numakura Chikahiko, Fujiwara Ikuma, Minamitani Kanshi, Hasegawa Tomonobu, Tajima Toshihiro: Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan. ENDOCRINE JOURNAL. 2020.08; 67 (8): 853-857. ( DOI )

Yoshino Hiroshi, Nishiyama Yohei, Kamma Hiroshi, Chiba Tomohiro, Fujiwara Masachika, Karaho Takehiro, Kogashiwa Yasunao, Morio Tomohiro, Yan Kunimasa, Bessho Fumio, Takagi Masatoshi: 小児期の遺伝性血小板減少症、急性リンパ芽球性白血病、唾液腺癌に関連する生殖細胞系列ETV6変異型の機能的特性(Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood) International Journal of Hematology. 2020.08; 112 (2): 217-222. ( 医中誌 )

Yoshino Hiroshi, Nishiyama Yohei, Kamma Hiroshi, Chiba Tomohiro, Fujiwara Masachika, Karaho Takehiro, Kogashiwa Yasunao, Morio Tomohiro, Yan Kunimasa, Bessho Fumio, Takagi Masatoshi: 小児期の遺伝性血小板減少症、急性リンパ芽球性白血病、唾液腺癌に関連する生殖細胞系列ETV6変異型の機能的特性(Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood) International Journal of Hematology. 2020.08; 112 (2): 217-222. ( 医中誌 )

Miyaoka Futaba, Toyofuku Etsushi, Isoda Takeshi, Moiro Tomohiro, Kanegane Hirokazu: グルコース-6-リン酸脱水素酵素欠乏症の症例で生じたインフルエンザ誘発性の溶血クリーゼ(Influenza-induced hemolytic crisis in glucose-6-phosphate dehydrogenase deficiency) Pediatrics International. 2020.08; 62 (8): 1003-1004. ( 医中誌 )

Moriya K, Suzuki T, Uchida N, Nakano T, Katayama S, Irie M, Rikiishi T, Niizuma H, Okada S, Imai K, Sasahara Y, Kure S.: Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation. The International Journal of Hematology. 2020.08; 112 ((2)): 258-262. ( PubMed , DOI )

Kensaku Kohrogi, Masahiro Migita, Tadashi Anan, Takeshi Sugahara, Kazuhiko Yoshimoto, Hirokazu Kanegane, Kimitoshi Nakamura: Successful Artery Embolization in a Patient with Autoimmune Lymphoproliferative Syndrome Associated with Splenic Rupture. J. Clin. Immunol. 2020.07; 40 (5): 780-782. ( PubMed , DOI )

Miho Maeda, Akira Morimoto, Yoko Shioda, Takeshi Asano, Yuhki Koga, Yozo Nakazawa, Hirokazu Kanegane, Kazuko Kudo, Shouichi Ohga, Eiichi Ishii, : Long-term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan. Pediatr Blood Cancer. 2020.07; 67 (7): e28381. ( PubMed , DOI )

Tsubasa Okano, Kohsuke Imai, Takuya Naruto, Satoshi Okada, Motoi Yamashita, Tzu-Wen Yeh, Shintaro Ono, Keisuke Tanaka, Keisuke Okamoto, Kay Tanita, Kazuaki Matsumoto, Etsushi Toyofuku, Eri Kumaki-Matsumoto, Miko Okamura, Hiroo Ueno, Seishi Ogawa, Osamu Ohara, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio: Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity. The Journal of Clinical Immunology . 2020.07; 40 ((5)): 729-740. ( PubMed , DOI )

Hisashi Ishida, Yuji Miyajima, Nobuyuki Hyakuna, Satoru Hamada, Takeo Sarashina, Risa Matsumura, Katsutsugu Umeda, Tetsuo Mitsui, Naoto Fujita, Daisuke Tomizawa, Kevin Y Urayama, Yasushi Ishida, Takashi Taga, Masatoshi Takagi, Souichi Adachi, Atsushi Manabe, Toshihiko Imamura, Katsuyoshi Koh, Akira Shimada, Leukemia/Lymphoma Committee of the Japanese Society of Pediatric Hematology Oncology (JSPHO): Clinical features of children with polycythemia vera, essential thrombocythemia, and primary myelofibrosis in Japan: A retrospective nationwide survey. eHaem. 2020.07; 1 (1): 86-93. ( DOI )

Masakatsu Yanagimachi, Koji Kato, Akihiro Iguchi, Koji Sasaki, Chikako Kiyotani, Katsuyoshi Koh, Takashi Koike, Hideki Sano, Tomonari Shigemura, Hideki Muramatsu, Keiko Okada, Masami Inoue, Ken Tabuchi, Toyoki Nishimura, Tomoyuki Mizukami, Hiroyuki Nunoi, Kohsuke Imai, Masao Kobayashi, Tomohiro Morio: Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan Front Immunol. 2020.07; 11 1617. ( PubMed , DOI )

Inoue Natsumi, Shimizu Masaki, Mizuta Mao, Yachie Akihiro: TNF阻害薬抵抗性の皮膚型結節性多発動脈炎に対して奏効したトシリズマブ投与(Successful treatment of tumor necrosis factor inhibitor-resistant cutaneous polyarteritis nodosa with tocilizumab) Pediatrics International. 2020.06; 62 (6): 753-755. ( 医中誌 )

Inoue N, Shimizu M, Mizuta M, Yachie A: Successful treatment of tumor necrosis factor inhibitor-resistant cutaneous polyarteritis nodosa with tocilizumab. Pediatrics international : official journal of the Japan Pediatric Society. 2020.06; 62 (6): 753-755. ( PubMed , DOI )

Katsutsugu Umeda, Kohsuke Imai, Masakatsu Yanagimachi, Hiromasa Yabe, Masao Kobayashi, Yoshiyuki Takahashi, Michiko Kajiwara, Nao Yoshida, Yuko Cho, Masami Inoue, Yoshiko Hashii, Yoshiko Atsuta, Tomohiro Morio: Impact of graft-versus-host disease on the clinical outcome of allogeneic hematopoietic stem cell transplantation for non-malignant diseases. Int J Hematol. 2020.06; 111 (6): 869-876. ( PubMed , DOI )

Inoue K, Miura H, Hoshino A, Kamiya T, Tanita K, Ohye T, Park MJ, Yanagimachi M, Takagi M, Imai K, Morio T, Yoshikawa T, Kanegane H: Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency. Transpl Infect Dis. 2020.05; e13331. ( PubMed , DOI )

Kaneko Shuya, Shimizu Masaki, Inoue Natsumi, Mizuta Mao, Yachie Akihiro: 筋炎を伴う慢性再発性多発性骨髄炎　症例報告と文献レビュー(Chronic recurrent multifocal osteomyelitis with myositis: A case report and review of the literature) Pediatrics International. 2020.05; 62 (5): 644-645. ( 医中誌 )

Kaneko S, Shimizu M, Inoue N, Mizuta M, Yachie A: Chronic recurrent multifocal osteomyelitis with myositis: A case report and review of the literature. Pediatrics international : official journal of the Japan Pediatric Society. 2020.05; 62 (5): 644-645. ( PubMed , DOI )

Hiroshi Yoshino, Yohei Nishiyama, Hiroshi Kamma, Tomohiro Chiba, Masachika Fujiwara, Takehiro Karaho, Yasunao Kogashiwa, Tomohiro Morio, Kunimasa Yan, Fumio Bessho, Masatoshi Takagi: Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood. Int J Hematol.. 2020.05; 112 (2): 217-222. ( PubMed , DOI )

Akihiro Hoshino, Akira Nishimura, Takuya Naruto, Tsubasa Okano, Kazuaki Matsumoto, Keisuke Okamoto, Hiroshi Shintaku, Shown Tokoro, Hiroyuki Okamoto, Taizo Wada, Masatoshi Takagi, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio: High-throughput analysis revealed the unique immunoglobulin gene rearrangements in plasmacytoma-like post-transplant lymphoproliferative disorder. Br. J. Haematol.. 2020.05; 189 (4): e164-e168. ( PubMed , DOI )

Shimizu M, Inoue N, Mizuta M, Sakakibara Y, Hamaguchi Y, Yachie A: Periorbital Edema as the Initial Sign of Juvenile Dermatomyositis. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases. 2020.04; 26 (3): e61. ( PubMed , DOI )

Takishima Shigeru, Kono Tomotaka, Takasawa Kei, Kashimada Kenichi, Mochizuki Hiroshi: 夜間遺尿は小児傍神経節腫の一症状の可能性がある　1例報告(Nocturnal enuresis is a possible symptom of pediatric paraganglioma: A case report) Clinical Pediatric Endocrinology. 2020.04; 29 (2): 85-87. ( 医中誌 )

Minako Mori, Asuka Hira, Kenichi Yoshida, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Michiko Anmae, Jun Yasuda, Shu Tadaka, Kengo Kinoshita, Tomoo Osumi, Yasushi Noguchi, Souichi Adachi, Ryoji Kobayashi, Hiroshi Kawabata, Kohsuke Imai, Tomohiro Morio, Kazuo Tamura, Akifumi Takaori-Kondo, Masayuki Yamamoto, Satoru Miyano, Seiji Kojima, Etsuro Ito, Seishi Ogawa, Keitaro Matsuo, Hiromasa Yabe, Miharu Yabe, Minoru Takata: Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients Haematologica. 2020.04; 105 (4): 1166-1167. ( PubMed , DOI )

Tomonori Kadowaki, Hidenori Ohnishi, Norio Kawamoto, Saori Kadowaki, Tomohiro Hori, Kenichi Nishimura, Chie Kobayashi, Tomonari Shigemura, Shohei Ogata, Yuzaburo Inoue, Eitaro Hiejima, Kazushi Izawa, Tadashi Matsubayashi, Kazuaki Matsumoto, Kohsuke Imai, Ryuta Nishikomori, Shuichi Ito, Hirokazu Kanegane, Toshiyuki Fukao: Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry. Clin. Immunol.. 2020.04; 108441. ( PubMed , DOI )

Shigeru Takishima, Tomotaka Kono, Kei Takasawa, Kenichi Kashimada, Hiroshi Mochizuki: Nocturnal enuresis is a possible symptom of pediatric paraganglioma: A case report. Clin Pediatr Endocrinol. 2020.04; 29 (2): 85-87. ( PubMed , DOI )

Shimizu M: Pathogenic functions and diagnostic utility of cytokines/chemokines in EHEC-HUS. Pediatrics international : official journal of the Japan Pediatric Society. 2020.03; 62 (3): 308-315. ( PubMed , DOI )

Shimizu Masaki: EHEC-HUSにおけるサイトカイン/ケモカインの病原性機能と診断的有用性(Pathogenic functions and diagnostic utility of cytokines/chemokines in EHEC-HUS) Pediatrics International. 2020.03; 62 (3): 308-315. ( 医中誌 )

Susumu Yamazaki, Asami Shimbo, Yuko Akutsu, Hiroshi Takase, Tomohiro Morio, Masaaki Mori: Importance of pediatric rheumatologists and transitional care for juvenile idiopathic arthritis-associated uveitis: a retrospective series of 9 cases Pediatr Rheumatol Online J. 2020.03; 18 (1): 26. ( PubMed , DOI )

Irabu H, Shimizu M, Kaneko S, Inoue N, Mizuta M, Nakagishi Y, Yachie A: Comparison of serum biomarkers for the diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis during tocilizumab therapy. Pediatric research. 2020.03; ( PubMed , DOI )

Hoshino Akihiro, Tokoro Shown, Akashi Takumi, Inoue Maiko, Takagi Masatoshi, Imai Kohsuke, Kanegane Hirokazu, Muraosa Yasunori, Kamei Katsuhiko, Morio Tomohiro: Disseminated fusariosis in a child after haploidentical hematopoietic stem cell transplantation. Pediatrics International. 2020.03; 62 (3): 419-420. ( 医中誌 )

Tao Xu, Qin Zhao, Wenyan Li, Xuemei Chen, Xiuhong Xue, Zhi Chen, Xiao Du, Xiaoming Bai, Qian Zhao, Lina Zhou, Xuemei Tang, Xi Yang, Hirokazu Kanegane, Xiaodong Zhao: X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic. Eur. J. Pediatr.. 2020.02; 179 (2): 327-338. ( PubMed , DOI )

Denholtz Matthew, Zhu Yina, He Zhaoren, Lu Hanbin, Isoda Takeshi, Dohrmann Simon, Nizet Victor, Murre Cornelis: Upon microbial challenge, human neutrophils undergo rapid changes in nuclear architecture and chromatin folding to orchestrate an immediate inflammatory gene program GENES & DEVELOPMENT. 2020.02; 34 (3-4): 149-165. ( PubMed , DOI )

Shimizu M, Shimizu H, Jinkawa A, Yamamiya M, Shinozaki E, Yokoyama T, Ohta K, Sakumura N, Takakuwa M, Fujita S, Fusagawa S, Nakagishi Y, Nariai E, Yachie A: Cytokine Profiles in Human Parechovirus Type 3-induced Sepsis-like Syndrome. The Pediatric infectious disease journal. 2020.02; 39 (2): 137-139. ( PubMed , DOI )

Takuro Nishikawa, Ken Okamura, Mizuki Moriyama, Kenji Watanabe, Atsuko Ibusuki, Seiji Sameshima, Izumi Masamoto, Ieharu Yamazaki, Kay Tanita, Takuro Kanekura, Hirokazu Kanegane, Tamio Suzuki, Yoshifumi Kawano: Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2. J. Dermatol.. 2020.02; 47 (2): 185-189. ( PubMed , DOI )

Shimizu Masaki, Mizuta Mao, Okamoto Nami, Yasumi Takahiro, Iwata Naomi, Umebayashi Hiroaki, Okura Yuka, Kinjo Noriko, Kubota Tomohiro, Nakagishi Yasuo, Nishimura Kenichi, Mohri Mariko, Yashiro Masato, Yasumura Junko, Wakiguchi Hiroyuki, Mori Masaaki: Tocilizumab modifies clinical and laboratory features of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis PEDIATRIC RHEUMATOLOGY. 2020.01; 18 (1): 2. ( PubMed , DOI )

Akito Sutani, Hirohito Shima, Atsushi Hijikata, Susumu Hosokawa, Yuko Fukui, Kei Takasawa, Erina Suzuki, Shozaburou Doi, Tsuyoshi Shirai, Tomohiro Morio, Maki Fukami, Kenichi Kashimada: WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome. Eur J Med Genet. 2020.01; 63 (1): 103626. ( PubMed , DOI )

Sakumura N, Irabu H, Inoue N, Mizuta M, Shimizu M: Clinical usefulness of longitudinal IL-6 monitoring in a patient with Takayasu aortitis receiving tocilizumab. Rheumatology . 2020.01; 59 (1): 252-254. ( PubMed , DOI )

Kudo K, Maeda M, Suzuki N, Kanegane H, Ohga S, Ishii E, Shioda Y, Imamura T, Imashuku S, Tsunematsu Y, Endo M, Shimada A, Koga Y, Hashii Y, Noguchi M, Inoue M, Tabuchi K, Morimoto A; Histiocytosis study group of the Japanese Society of Pediatric Hematology/Oncology: Nationwide retrospective review of hematopoietic stem cell transplantation in children with refractory Langerhans cell histiocytosis. Int. J. Hematol.. 2020.01; 111 (1): 137-148. ( PubMed , DOI )

Yasumura J, Shimizu M, Toma T, Yashiro M, Yachie A, Okada S: Clinical Significance of Serum Soluble TNF Receptor I/II Ratio for the Differential Diagnosis of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome From Other Autoinflammatory Diseases. Frontiers in immunology. 2020; 11 576152. ( PubMed , DOI )

Irabu H, Shimizu M, Kaneko S, Inoue N, Mizuta M, Ohta K, Yachie A: Clinical Significance of Serum Galactose-Deficient IgA1 Level in Children with IgA Nephropathy. Journal of immunology research. 2020; 2020 4284379. ( PubMed , DOI )

Tanaka T, Shimizu M, Tokuda O, Yamamoto H, Matsunoshita N, Takenaka K, Kawasaki K: Kawasaki Disease with an Initial Manifestation Mimicking Bacterial Inguinal Cellulitis. Case reports in pediatrics. 2020; 2020 8889827. ( PubMed , DOI )

Hatano Maho, Tomoda Takahiro, Okano Tsubasa, Nunoda Issei, Morishita Aoi, Inoue Kent, Yamashita Motoi, Endo Akifumi, Kamiya Takahiro, Isoda Takeshi, Yanagimachi Masakatsu, Takagi Masatoshi, Kanegane Hirokazu, Okuno Keisuke, Imai Kohsuke, Morio Tomohiro: Intrinsically Vancomycin Resistant Enterococcal (Enterococcus Gallinarum) Meningitis Occurred Early After Hematopoietic Stem Cell Transplantation for Activated PI3K Delta Syndrome Type 2 PEDIATRIC BLOOD & CANCER. 2019.12; 66 S124.

Nunoda Issei, Tomoda Takahiro, Kamiya Takahiro, Okano Tsubasa, Hatano Maho, Yoshimoto Yuri, Muramatsu Hideki, Morishita Aoi, Inoue Kento, Yamashita Motoi, Endo Akifumi, Yanagimachi Masakatsu, Isoda Takeshi, Kanegane Hirokazu, Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro: Efficacy of Azacitidine for MDS Due to Germline GATA2 Haploinsufficiency PEDIATRIC BLOOD & CANCER. 2019.12; 66 S45.

Tomoda Takahiro, Nishimura Akira, Ono Rintaro, Isoda Takeshi, Inoue Maiko, Kamiya Takahiro, Yanagimachi Masakatsu, Imai Kohsuke, Kanegane Hirokazu, Hasegawa Daisuke, Morio Tomohiro, Manabe Atsushi, Takagi Masatoshi: Clonal Evolution of Leukemia With MLL-AF9 from Myeloid to T-Lineage PEDIATRIC BLOOD & CANCER. 2019.12; 66 S111.

Kiyokawa, N; Ohki, K; Takahashi, H; Fukushima, T; Kato, M; Goto, H; Hino, M; Shimada, H; Takagi, M; Yuza, Y; Arakawa, A; Suwabe, S; Kato, K; Manabe, A; Ohara, A; Inukai, T; Hasegawa, D; Tomizawa, D; Koh, K: Gene Expression Profiling Defines Clinical Subgroups of Pediatric BCP-ALL Lacking Major Pathogenic Abnormalities: Results from the TCCSG L04-16 Study PEDIATRIC BLOOD & CANCER. 2019.12; 66 S25-S26.

Kiyokawa, N; Ohki, K; Takahashi, H; Fukushima, T; Kato, M; Goto, H; Hino, M; Shimada, H; Takagi, M; Yuza, Y; Arakawa, A; Suwabe, S; Kato, K; Manabe, A; Ohara, A; Inukai, T; Hasegawa, D; Tomizawa, D; Koh, K: Gene Expression Profiling Defines Clinical Subgroups of Pediatric BCP-ALL Lacking Major Pathogenic Abnormalities: Results from the TCCSG L04-16 Study PEDIATRIC BLOOD & CANCER. 2019.12; 66 S25-S26.

Hatano Maho, Tomoda Takahiro, Okano Tsubasa, Nunoda Issei, Morishita Aoi, Inoue Kent, Yamashita Motoi, Endo Akifumi, Kamiya Takahiro, Isoda Takeshi, Yanagimachi Masakatsu, Takagi Masatoshi, Kanegane Hirokazu, Okuno Keisuke, Imai Kohsuke, Morio Tomohiro: Intrinsically Vancomycin Resistant Enterococcal (Enterococcus Gallinarum) Meningitis Occurred Early After Hematopoietic Stem Cell Transplantation for Activated PI3K Delta Syndrome Type 2 PEDIATRIC BLOOD & CANCER. 2019.12; 66 S124.

Nunoda Issei, Tomoda Takahiro, Kamiya Takahiro, Okano Tsubasa, Hatano Maho, Yoshimoto Yuri, Muramatsu Hideki, Morishita Aoi, Inoue Kento, Yamashita Motoi, Endo Akifumi, Yanagimachi Masakatsu, Isoda Takeshi, Kanegane Hirokazu, Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro: Efficacy of Azacitidine for MDS Due to Germline GATA2 Haploinsufficiency PEDIATRIC BLOOD & CANCER. 2019.12; 66 S45.

Tomoda Takahiro, Nishimura Akira, Ono Rintaro, Isoda Takeshi, Inoue Maiko, Kamiya Takahiro, Yanagimachi Masakatsu, Imai Kohsuke, Kanegane Hirokazu, Hasegawa Daisuke, Morio Tomohiro, Manabe Atsushi, Takagi Masatoshi: Clonal Evolution of Leukemia With MLL-AF9 from Myeloid to T-Lineage PEDIATRIC BLOOD & CANCER. 2019.12; 66 S111.

Hamidah Alias, Abdul Halim Abdul Rashid, Sie Chong Doris Lau, C-Khai Loh, Jamari Sapuan, Sharaf Ibrahim, Reena R Md Zin, Yock Ping Chow, Hirokazu Kanegane, Mariko Eguchi: Early Surgery Is Feasible for a Very Large Congenital Infantile Fibrosarcoma Associated With Life Threatening Coagulopathy: A Case Report and Literature Review. Front Pediatr. 2019.12; 7 529. ( PubMed , DOI )

Takeru Yamauchi, Kei Takasawa, Takahiro Kamiya, Shizuka Kirino, Maki Gau, Kento Inoue, Akihiro Hoshino, Kenichi Kashimada, Hirokazu Kanegane, Tomohiro Morio: Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome. Pediatr Diabetes. 2019.11; 20 (7): 1035-1040. ( PubMed , DOI )

Hosokawa Yuki, Higuchi Shinji, Kawakita Rie, Hata Ikue, Urakami Tatsuhiko, Isojima Tsuyoshi, Takasawa Kei, Matsubara Yohei, Mizuno Haruo, Maruo Yoshihiro, Matsui Katsuyuki, Aizu Katsuya, Jinno Kazuhiko, Araki Shunsuke, Fujisawa Yasuko, Osugi Koji, Tono Chikako, Takeshima Yasuhiro, Yorifuji Tohru: Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young. JOURNAL OF DIABETES INVESTIGATION. 2019.11; 10 (6): 1586-1589. ( DOI )

Setsuko Hasegawa, Satoko Kumada, Naoyuki Tanuma, Atsumi Tsuji-Hosokawa, Ayako Kashimada, Tomoko Mizuno, Kengo Moriyama, Yuji Sugawara, Ikuko Shirai, Yohane Miyata, Hiroya Nishida, Hideaki Mashimo, Takeshi Hasegawa, Takatoshi Hosokawa, Hiroaki Hisakawa, Mitsugu Uematsu, Akio Fujine, Rie Miyata, Hiroshi Sakuma, Kenichi Kashimada, Kohsuke Imai, Tomohiro Morio, Masaharu Hayashi, Shuki Mizutani, Masatoshi Takagi: Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia. Pediatr Neurol. 2019.11; 100 60-66. ( PubMed , DOI )

Hosokawa Yuki, Higuchi Shinji, Kawakita Rie, Hata Ikue, Urakami Tatsuhiko, Isojima Tsuyoshi, Takasawa Kei, Matsubara Yohei, Mizuno Haruo, Maruo Yoshihiro, Matsui Katsuyuki, Aizu Katsuya, Jinno Kazuhiko, Araki Shunsuke, Fujisawa Yasuko, Osugi Koji, Tono Chikako, Takeshima Yasuhiro, Yorifuji Tohru: 日本人のグルコキナーゼ若年発症成人型糖尿病患者の妊娠アウトカム(Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young) Journal of Diabetes Investigation. 2019.11; 10 (6): 1586-1589. ( 医中誌 )

Usami M, Shimizu M, Mizuta M, Inoue N, Irabu H, Sakumura N, Nakagishi Y, Yachie A: Extensive serum biomarker analysis in patients with macrophage activation syndrome associated with systemic lupus erythematosus. Clinical immunology (Orlando, Fla.). 2019.11; 208 108255. ( PubMed , DOI )

Takakura M, Shimizu M, Irabu H, Sakumura N, Inoue N, Mizuta M, Nakagishi Y, Yachie A: Comparison of serum biomarkers for the diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. Clinical immunology (Orlando, Fla.). 2019.11; 208 108252. ( PubMed , DOI )

Kazufumi Kunimura, Daiji Sakata, Xin Tun, Takehito Uruno, Miho Ushijima, Tomoya Katakai, Akira Shiraishi, Ryosuke Aihara, Yasuhisa Kamikaseda, Keisuke Matsubara, Hirokazu Kanegane, Shinichiro Sawa, Gérard Eberl, Shouichi Ohga, Yasunobu Yoshikai, Yoshinori Fukui: S100A4 Protein Is Essential for the Development of Mature Microfold Cells in Peyer's Patches. Cell Rep. 2019.11; 29 (9): 2823-2834.e7. ( PubMed , DOI )

Nobuyoshi Kusano, Naoki Sakata, Keisuke Sugimoto, Tomoki Miyazawa, Satoshi Ueda, Munehiro Okano, Ken-Ichi Imadome, Akihiro Hoshino, Hirokazu Kanegane, Masatomo Kimura, Takao Sato, Mitsuru Okada, Tsukasa Takemura: An 18-Year-Old Male With X-linked Lymphoproliferative Syndrome Type 1 Who Developed Primary Central Nervous System Lymphoma 6 Months After Primary Epstein-Barr Virus Infection. J. Pediatr. Hematol. Oncol. 2019.11; 41 (8): e538-e541. ( PubMed , DOI )

Hatano Maho, Tomoda Takahiro, Okano Tsubasa, Nunoda Issei, Morishita Aoi, Inoue Kento, Yamashita Motoi, Endo Akifumi, Kamiya Takahiro, Isoda Takeshi, Yanagimachi Masakatsu, Takagi Masatoshi, Kanegane Hirokazu, Okuno Keisuke, Imai Kohsuke, Morio Tomohiro: 非血縁者間骨髄移植後早期にバンコマイシン自然耐性腸球菌性髄膜炎に罹患した活性型PI3Kδ症候群2型の1例(Intrinsically Vancomycin resistant enterococcal(Enterococcus gallinarum) meningitis occurred early after hematopoietic stem cell transplantation for activated PI3K delta syndrome type2) 日本小児血液・がん学会雑誌. 2019.10; 56 (4): 325. ( 医中誌 )

Tomoda Takahiro, Nishimura Akira, Ono Rintaro, Isoda Takeshi, Inoue Maiko, Kamiya Takahiro, Yanagimachi Masakatsu, Imai Kohsuke, Kanegane Hirokazu, Hasegawa Daisuke, Morio Tomohiro, Manabe Atsushi, Takagi Masatoshi: 急性骨髄性白血病からT細胞型急性リンパ性白血病へclonal evolutionを起こしたMLL-AF9陽性乳児白血病の一例(Clonal evolution of leukemia with MLL-AF9 from myeloid to T-lineage) 日本小児血液・がん学会雑誌. 2019.10; 56 (4): 276. ( 医中誌 )

Nunoda Issei, Tomoda Takahiro, Kamiya Takahiro, Okano Tsubasa, Hatano Maho, Yoshimoto Yuri, Muramatsu Hideki, Morishita Aoi, Inoue Kento, Yamashita Motoi, Endo Akifumi, Yanagimachi Masakatsu, Isoda Takeshi, Kanegane Hirokazu, Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro: GATA2異常症に伴うMDSに対するAzacitidineの有効性(Efficacy of Azacitidine for MDS due to germline GATA2 haploinsufficiency) 日本小児血液・がん学会雑誌. 2019.10; 56 (4): 213. ( 医中誌 )

Sutani A, Miyakawa Y, Tsuji-Hosokawa A, Nomura R, Nakagawa R, Nakajima K, Maru M, Aoki Y, Takasawa K, Takagi M, Imai K, Kashimada K, Morio T: Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2019.10; 28 (4): 105-112. ( PubMed , DOI )

Minako Mori, Asuka Hira, Kenichi Yoshida, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Michiko Anmae, Jun Yasuda, Shu Tadaka, Kengo Kinoshita, Tomoo Osumi, Yasushi Noguchi, Souichi Adachi, Ryoji Kobayashi, Hiroshi Kawabata, Kohsuke Imai, Tomohiro Morio, Kazuo Tamura, Akifumi Takaori-Kondo, Masayuki Yamamoto, Satoru Miyano, Seiji Kojima, Etsuro Ito, Seishi Ogawa, Keitaro Matsuo, Hiromasa Yabe, Miharu Yabe, Minoru Takata: Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. Haematologica. 2019.10; 104 (10): 1962-1973. ( PubMed , DOI )

Maeda Y, Takasawa K, Ishii T, Nagashima A, Mouri M, Kunieda J, Morisaki H, Ito T, Mori M, Kashimada K, Doi S, Morio T: A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality. Cardiology. 2019.10; 144 (1-2): 53-59. ( PubMed , DOI )

Sutani Akito, Miyakawa Yuichi, Tsuji-Hosokawa Atsumi, Nomura Risa, Nakagawa Ryuichi, Nakajima Keisuke, Maru Mitsue, Aoki Yuki, Takasawa Kei, Takagi Masatoshi, Imai Kohsuke, Kashimada Kenichi, Morio Tomohiro: 非悪性疾患に対する造血幹細胞移植後の女性患者における性腺機能不全(Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases) Clinical Pediatric Endocrinology. 2019.10; 28 (4): 105-112. ( 医中誌 )

Sutani Akito, Miyakawa Yuichi, Tsuji-Hosokawa Atsumi, Nomura Risa, Nakagawa Ryuichi, Nakajima Keisuke, Maru Mitsue, Aoki Yuki, Takasawa Kei, Takagi Masatoshi, Imai Kohsuke, Kashimada Kenichi, Morio Tomohiro: 非悪性疾患に対する造血幹細胞移植後の女性患者における性腺機能不全(Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases) Clinical Pediatric Endocrinology. 2019.10; 28 (4): 105-112. ( 医中誌 )

Shimizu M, Kizawa T, Kato R, Suzuki T, Yachie A: Macrophage activation syndrome in neonates born to mothers with adult-onset Still's disease: Perinatal effect of maternal IL-18. Clinical immunology (Orlando, Fla.). 2019.10; 207 36-39. ( PubMed , DOI )

Yusuke Tozawa, Shimaa Said Mohamed Ali Abdrabou, Natsuko Nogawa-Chida, Ritsuo Nishiuchi, Toshiaki Ishida, Yuichi Suzuki, Hideki Sano, Ryoji Kobayashi, Kenji Kishimoto, Osamu Ohara, Kohsuke Imai, Takuya Naruto, Kunihiko Kobayashi, Tadashi Ariga, Masafumi Yamada: A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM). Clin. Immunol.. 2019.09; 108256. ( PubMed , DOI )

Makiko Egawa, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio, Naoyuki Miyasaka: Intravenous immunoglobulin (IVIG) efficiency in women with common variable immunodeficiency (CVID) decreases significantly during pregnancy. J. Matern. Fetal. Neonatal. Med.. 2019.09; 32 (18): 3092-3096. ( PubMed , DOI )

Atsushi Watanabe, Takeshi Inukai, Keiko Kagami, Masako Abe, Masatoshi Takagi, Takashi Fukushima, Hiroko Fukushima, Toru Nanmoku, Kiminori Terui, Tatsuya Ito, Tsutomu Toki, Etsuro Ito, Junya Fujimura, Hiroaki Goto, Mikiya Endo, Thomas Look, Mark Kamps, Masayoshi Minegishi, Junko Takita, Toshiya Inaba, Hiroyuki Takahashi, Akira Ohara, Daisuke Harama, Tamao Shinohara, Shinpei Somazu, Hiroko Oshiro, Koshi Akahane, Kumiko Goi, Kanji Sugita: Resistance of t(17;19)-acute lymphoblastic leukemia cell lines to multiagents in induction therapy. Cancer Med. 2019.09; 8 (11): 5274-5288. ( PubMed , DOI )

Kaneko S, Shimizu M, Irabu H, Yachie A: Acute generalized exanthematous pustulosis in a child with fasciitis. Pediatrics international : official journal of the Japan Pediatric Society. 2019.09; 61 (9): 938. ( PubMed , DOI )

Kaneko Shuya, Shimizu Masaki, Irabu Hitoshi, Yachie Akihiro: 筋膜炎小児における急性汎発性発疹性膿疱症(Acute generalized exanthematous pustulosis in a child with fasciitis) Pediatrics International. 2019.09; 61 (9): 938. ( 医中誌 )

Akihiro Iguchi, Yuko Cho, Hiromasa Yabe, Shunichi Kato, Koji Kato, Junichi Hara, Katsuyoshi Koh, Junko Takita, Takashi Ishihara, Masami Inoue, Kohsuke Imai, Hideki Nakayama, Yoshiko Hashii, Akira Morimoto, Yoshiko Atsuta, Tomohiro Morio, : Long-term outcome and chimerism in patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation: a retrospective nationwide survey. Int. J. Hematol.. 2019.09; 110 (3): 364-369. ( PubMed , DOI )

Hayase T, Ikeda T, Yoshimoto T, Imai K, Morimoto A.: Fatal idiopathic pneumonia syndrome in Artemis deficiency. Pediatr Int. 2019.08; ( PubMed , DOI )

Tomoko Mizuno, Ayako Kashimada, Toshihiro Nomura, Kengo Moriyama, Haruna Yokoyama, Setsuko Hasegawa, Masatoshi Takagi, Shuki Mizutani: Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report. Brain Dev. 2019.08; 41 (7): 630-633. ( PubMed , DOI )

Takeshi Isoda, Tomohiro Morio, Masatoshi Takagi: Noncoding RNA transcription at enhancers and genome folding in cancer. Cancer Sci. 2019.08; 110 (8): 2328-2336. ( PubMed , DOI )

Isoda Takeshi, Morio Tomohiro, Takagi Masatoshi: がんのエンハンサー部位で生じるノンコーディングRNAの転写現象とゲノムの折りたたみ(Noncoding RNA transcription at enhancers and genome folding in cancer) Cancer Science. 2019.08; 110 (8): 2328-2336. ( 医中誌 )

Katsutsugu Umeda, Hiromasa Yabe, Koji Kato, Kohsuke Imai, Masao Kobayashi, Yoshiyuki Takahashi, Nao Yoshida, Maho Sato, Yoji Sasahara, Keisuke Kato, Souichi Adachi, Yuhki Koga, Keiko Okada, Masami Inoue, Yoshiko Hashii, Yoshiko Atsuta, Tomohiro Morio, : Impact of low-dose irradiation and in vivo T-cell depletion on hematopoietic stem cell transplantation for non-malignant diseases using fludarabine-based reduced-intensity conditioning. Bone Marrow Transplant.. 2019.08; 54 (8): 1227-1236. ( PubMed , DOI )

Ibusuki A, Nishikawa T, Hiraki T, Okano T, Imai K, Kanegane H, Ohnishi H, Kato Z, Fujii K, Tanimoto A, Kawano Y, Kanekura T.: Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL2RG gene. J. Dermatol.. 2019.08; ( PubMed , DOI )

Nishimura Akira, Aoki Yuki, Ishiwata Yasuyoshi, Inoue Maiko, Ichimura Takuya, Ueyama Junichi, Matsumoto Kazuaki, Inoue Kento, Hiroki Haruka, Ono Shintaro, Okano Tsubasa, Tanaka Mari, Miyamoto Satoshi, Ashiarai Miho, Miyawaki Reiji, Yamagishi Chika, Tezuka Mari, Okawa Teppei, Hoshino Akihiro, Endo Akifumi, Yasuhara Masato, Kamiya Takahiro, Mitsuiki Noriko, Ono Toshiaki, Yanagimachi Masakatsu, Isoda Takeshi, Tomizawa Daisuke, Nagasawa Masayuki, Kajiwara Michiko, Takagi Masatoshi, Mizutani Shuki, Kanegane Hirokazu, Imai Kohsuke, Morio Tomohiro: Hematopoietic cell transplantation with reduced intensity conditioning regimen using fludarabine/busulfan and fludarabine/melphalan for primary immunodeficiency diseases BONE MARROW TRANSPLANTATION. 2019.07; 54 390-391.

Shimizu Masaki, Irabu Hitoshi, Kaneda Hisashi, Ohta Kazuhide, Nozu Kandai: 同胞で認められたPLCE1変異を伴う家族性巣状分節性糸球体硬化症(Familial focal segmental glomerulosclerosis with PLCE1 mutation in siblings) Pediatrics International. 2019.07; 61 (7): 726-727. ( 医中誌 )

Nishimura Akira, Aoki Yuki, Ishiwata Yasuyoshi, Inoue Maiko, Ichimura Takuya, Ueyama Junichi, Matsumoto Kazuaki, Inoue Kento, Hiroki Haruka, Ono Shintaro, Okano Tsubasa, Tanaka Mari, Miyamoto Satoshi, Ashiarai Miho, Miyawaki Reiji, Yamagishi Chika, Tezuka Mari, Okawa Teppei, Hoshino Akihiro, Endo Akifumi, Yasuhara Masato, Kamiya Takahiro, Mitsuiki Noriko, Ono Toshiaki, Yanagimachi Masakatsu, Isoda Takeshi, Tomizawa Daisuke, Nagasawa Masayuki, Kajiwara Michiko, Takagi Masatoshi, Mizutani Shuki, Kanegane Hirokazu, Imai Kohsuke, Morio Tomohiro: Hematopoietic cell transplantation with reduced intensity conditioning regimen using fludarabine/busulfan and fludarabine/melphalan for primary immunodeficiency diseases BONE MARROW TRANSPLANTATION. 2019.07; 54 390-391.

Shimizu M, Irabu H, Kaneda H, Ohta K, Nozu K: Familial focal segmental glomerulosclerosis with PLCE1 mutation in siblings. Pediatrics international : official journal of the Japan Pediatric Society. 2019.07; 61 (7): 726-727. ( PubMed , DOI )

Mizuta M, Shimizu M, Inoue N, Nakagishi Y, Yachie A: Clinical significance of serum CXCL9 levels as a biomarker for systemic juvenile idiopathic arthritis associated macrophage activation syndrome. Cytokine. 2019.07; 119 182-187. ( PubMed , DOI )

Jinkawa A, Shimizu M, Nishida K, Kaneko S, Usami M, Sakumura N, Irabu H, Takakuwa M, Inoue N, Mizuta M, Ikawa Y, Fujita S, Yachie A: Cytokine profile of macrophage activation syndrome associated with Kawasaki disease. Cytokine. 2019.07; 119 52-56. ( PubMed , DOI )

Hoshino A, Kanegane H, Nishi M, Tsuge I, Tokuda K, Kobayashi I, Imai K, Morio T, Takagi M: Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome. Clin. Immunol.. 2019.06; 203 9-13. ( PubMed , DOI )

Shimizu Masaki, Mizuta Mao, Yasumi Takahiro, Iwata Naomi, Okura Yuka, Kinjo Noriko, Umebayashi Hiroaki, Kubota Tomohiro, Nakagishi Yasuo, Nishimura Kenichi, Yashiro Masato, Yasumura Junko, Wakiguchi Hiroyuki, Okamoto Nami, Mori Masaaki: TOCILIZUMAB MODIFIES CLINICAL MANIFESTATIONS AND LABORATORY FEATURES OF SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS ASSOCIATED MACROPHAGE ACTIVATION SYNDROME ANNALS OF THE RHEUMATIC DISEASES. 2019.06; 78 1989. ( DOI )

Ono Rintaro, Shimizu Masaki, Yamamoto Kaoru, Umehara Naoki, Manabe Atsushi: 川崎病ショック症候群　1症例報告およびサイトカインプロファイリング(Kawasaki disease shock syndrome: Case report and cytokine profiling) Pediatrics International. 2019.06; 61 (6): 620-622. ( 医中誌 )

Takashi Okumura, Yumi Horie, Chen-Yi Lai, Huan-Ting Lin, Hirofumi Shoda, Bunki Natsumoto, Keishi Fujio, Eri Kumaki, Tsubasa Okano, Shintaro Ono, Kay Tanita, Tomohiro Morio, Hirokazu Kanegane, Hisanori Hasegawa, Fumitaka Mizoguchi, Kimito Kawahata, Hitoshi Kohsaka, Hiroshi Moritake, Hiroyuki Nunoi, Hironori Waki, Shin-Ichi Tamaru, Takayoshi Sasako, Toshimasa Yamauchi, Takashi Kadowaki, Hiroyuki Tanaka, Sachiko Kitanaka, Ken Nishimura, Manami Ohtaka, Mahito Nakanishi, Makoto Otsu: Robust and highly efficient hiPSC generation from patient non-mobilized peripheral blood-derived CD34+ cells using the auto-erasable Sendai virus vector. Stem Cell Res Ther. 2019.06; 10 (1): 185. ( PubMed , DOI )

Ono R, Shimizu M, Yamamoto K, Umehara N, Manabe A: Kawasaki disease shock syndrome: Case report and cytokine profiling. Pediatrics international : official journal of the Japan Pediatric Society. 2019.06; 61 (6): 620-622. ( PubMed , DOI )

Matsuura Yuko, Daimon Masao, Notomi Yuuichi, Miyasaka Naoyuki, Yamaguchi Yohei, Doi Shozaburo: Feasibility and Reproducibility of Fetal Left Ventricular Twist Using Two-Dimensional Speckle-Tracking Analysis in a Japanese Population International Heart Journal. 2019.05; 60 (3): 671-678. ( 医中誌 )

Ryu Yanagisawa, Kazuyuki Matsuda, Shouichi Ohga, Hirokazu Kanegane, Akira Morimoto, Yasuhiro Okamoto, Akira Ohara, Keitaro Fukushima, Manabu Sotomatsu, Keiko Nomura, Akiko M Saito, Keizo Horibe, Eiichi Ishii, Yozo Nakazawa: Correction to: Factors predicting the recurrence of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children after treatment using the HLH-2004 protocol. Int. J. Hematol. 2019.05; 109 (5): 629. ( PubMed , DOI )

Motoi Yamashita, Ryosuke Wakatsuki, Tamaki Kato, Tsubasa Okano, Shingo Yamanishi, Nobuko Mayumi, Mayuri Tanaka, Yumi Ogura, Hirokazu Kanegane, Shigeaki Nonoyama, Kohsuke Imai, Tomohiro Morio: A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency. Int. J. Hematol.. 2019.05; 109 (5): 603-611. ( PubMed , DOI )

Ryu Yanagaisawa, Kazuyuki Matsuda, Shouichi Ohga, Hirokazu Kanegane, Akira Morimoto, Yasuhiro Okamoto, Akira Ohara, Keitaro Fukushima, Manabu Sotomatsu, Keiko Nomura, Akiko M Saito, Keizo Horibe, Eiichi Ishii, Yozo Nakazawa: Factors predicting the recurrence of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children after treatment using the HLH-2004 protocol. Int. J. Hematol. 2019.05; 109 (5): 612-617. ( PubMed , DOI )

H Sasaki, A Takamura, K Kawahata, T Takashima, K Imai, T Morio, H Kohsaka: Peripheral blood lymphocyte subset repertoires are biased and reflect clinical features in patients with dermatomyositis. Scand J Rheumatol. 2019.05; 48 (3): 225-229. ( PubMed , DOI )

Matsuura Yuko, Daimon Masao, Notomi Yuuichi, Miyasalca Naoyuki, Yamaguchi Yohei, Doi Shozaburo: Feasibility and Reproducibility of Fetal Left Ventricular Twist Using Two-Dimensional Speckle-Tracking Analysis in a Japanese Population INTERNATIONAL HEART JOURNAL. 2019.05; 60 (3): 671-678. ( PubMed , DOI )

Yokoyama Tadafumi, Takemura Yuta, Taniguchi Chihiro, Jinkawa Asumi, Yamamiya Mari, Obata Misato, Miyashita Kengo, Inoue Mika, Sakazume Shinobu, Ohta Kazuhide, Irabu Hitoshi, Inoue Natsumi, Shimizu Masaki: 膿尿や細菌尿を伴わない急性腎盂腎炎の臨床的特徴(Clinical characteristics of the acute pyelonephritis without pyuria or bacteriuria) 日本小児腎臓病学会雑誌. 2019.05; 32 (1Suppl.): 187. ( 医中誌 )

Yamada Shimpei, Shimizu Masaki, Kuroda Mondo, Inoue Natsumi, Sugimoto Naotoshi, Yachie Akihiro: インターロイキン-33/ST2シグナル伝達は、腸管出血性大腸菌により誘発された溶血性尿毒症症候群の重症度に関係する(Interleukin-33/ST2 signaling contributes to the severity of hemolytic uremic syndrome induced by enterohemorrhagic Escherichia coli) Clinical and Experimental Nephrology. 2019.04; 23 (4): 544-550. ( 医中誌 )

Eri Kumaki, Keisuke Tanaka, Kohsuke Imai, Yuki Aoki-Nogami, Akira Ishiguro, Satoshi Okada, Hirokazu Kanegane, Fumihiko Ishikawa, Tomohiro Morio: Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. Int J Hematol. 2019.04; 109 (4): 382-389. ( PubMed , DOI )

Risa Nomura, Kenichi Kashimada, Hitomi Suzuki, Liang Zhao, Atsumi Tsuji-Hosokawa, Hideo Yagita, Masatoshi Takagi, Yoshiakira Kanai, Josephine Bowles, Peter Koopman, Masami Kanai-Azuma, Tomohiro Morio: Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling. J. Cell. Sci.. 2019.04; 132 (8): ( PubMed , DOI )

Yasumura Junko, Yashiro Masato, Okamoto Nami, Shabana Kosuke, Umebayashi Hiroaki, Iwata Naomi, Okura Yuka, Kubota Tomohiro, Shimizu Masaki, Tomiita Minako, Nakagishi Yasuo, Nishimura Kenichi, Hara Ryoki, Mizuta Mao, Yasumi Takahiro, Yamaide Fumiya, Wakiguchi Hiroyuki, Kobayashi Masao, Mori Masaaki: Clinical features and characteristics of uveitis associated with juvenile idiopathic arthritis in Japan: first report of the pediatric rheumatology association of Japan (PRAJ) PEDIATRIC RHEUMATOLOGY. 2019.04; 17 (1): 15. ( PubMed , DOI )

Yamada S, Shimizu M, Kuroda M, Inoue N, Sugimoto N, Yachie A: Interleukin-33/ST2 signaling contributes to the severity of hemolytic uremic syndrome induced by enterohemorrhagic Escherichia coli. Clinical and experimental nephrology. 2019.04; 23 (4): 544-550. ( PubMed , DOI )

Yasuoka R, Iwata N, Abe N, Kohagura T, Nakaseko H, Shimizu M, Kawabe S: Risk factors for hypersensitivity reactions to tocilizumab introduction in systemic juvenile idiopathic arthritis. Modern rheumatology. 2019.03; 29 (2): 324-327. ( PubMed , DOI )

Yasuoka Ryuhei, Iwata Naomi, Abe Naoki, Kohagura Toaki, Nakaseko Haruna, Shimizu Masaki, Kawabe Shinji: 全身型若年性特発性関節炎におけるトシリズマブ導入に対する過敏反応の危険因子(Risk factors for hypersensitivity reactions to tocilizumab introduction in systemic juvenile idiopathic arthritis) Modern Rheumatology. 2019.03; 29 (2): 324-327. ( 医中誌 )

Miyakawa Yuichi, Takasawa Kei, Matsubara Yohei, Ihara Kenji, Ohtsu Yoshiaki, Kamasaki Hotaka, Kitsuda Kazuteru, Kobayashi Hironori, Satoh Mari, Sano Sinichiro, Dateki Sumito, Mochizuki Hiroshi, Yokota Ichiro, Hasegawa Yukihiro, Kashimada Kenichi: Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood. ENDOCRINE JOURNAL. 2019.03; 66 (3): 215-221. ( PubMed , DOI )

Takahiro Kamiya, See Voon Seow, Desmond Wong, Murray Robinson, Dario Campana: Blocking expression of inhibitory receptor NKG2A overcomes tumor resistance to NK cells. J. Clin. Invest.. 2019.03; 130 ( PubMed , DOI )

Zeinab A El-Sayed, Irina Abramova, Juan Carlos Aldave, Waleed Al-Herz, Liliana Bezrodnik, Rachida Boukari, Ahmed Aziz Bousfiha, Caterina Cancrini, Antonio Condino-Neto, Ghassan Dbaibo, Beata Derfalvi, Figen Dogu, J David M Edgar, Brian Eley, Rasha Hasan El-Owaidy, Sara Elva Espinosa-Padilla, Nermeen Galal, Filomeen Haerynck, Rima Hanna-Wakim, Elham Hossny, Aydan Ikinciogullari, Ebtihal Kamal, Hirokazu Kanegane, Nadia Kechout, Yu Lung Lau, Tomohiro Morio, Viviana Moschese, Joao Farela Neves, Monia Ouederni, Roberto Paganelli, Kenneth Paris, Claudio Pignata, Alessandro Plebani, Farah Naz Qamar, Sonia Qureshi, Nita Radhakrishnan, Nima Rezaei, Nelson Rosario, John Routes, Berta Sanchez, Anna Sediva, Mikko Rj Seppanen, Edith Gonzalez Serrano, Anna Shcherbina, Surjit Singh, Sangeetha Siniah, Guiseppe Spadaro, Mimi Tang, Ana Maria Vinet, Alla Volokha, Kathleen E Sullivan: X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world. World Allergy Organ J. 2019.03; 12 (3): 100018. ( PubMed , DOI )

Miyakawa Yuichi, Takasawa Kei, Matsubara Yohei, Ihara Kenji, Ohtsu Yoshiaki, Kamasaki Hotaka, Kitsuda Kazuteru, Kobayashi Hironori, Satoh Mari, Sano Sinichiro, Dateki Sumito, Mochizuki Hiroshi, Yokota Ichiro, Hasegawa Yukihiro, Kashimada Kenichi: 言語発達遅滞とcatch-upは偽性副甲状腺機能低下症1a型の小児期における臨床的特徴(Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood) Endocrine Journal. 2019.03; 66 (3): 215-221. ( 医中誌 )

Ayako Kashimada, Setsuko Hasegawa, Toshihiro Nomura, Hiroshi Shiraku, Kengo Moriyama, Tomonori Suzuki, Keisuke Nakajima, Tomoko Mizuno, Kohsuke Imai, Yuji Sugawara, Tomohiro Morio, Satoko Kumada, Masatoshi Takagi: Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. Brain Dev. 2019.02; 41 (2): 150-157. ( PubMed , DOI )

Kay Tanita, Akihiro Hoshino, Ken-Ichi Imadome, Takahiro Kamiya, Kento Inoue, Tsubasa Okano, Tzu-Wen Yeh, Masakatsu Yanagimachi, Akira Shiraishi, Masataka Ishimura, Tilmann Schober, Meino Rohlfs, Masatoshi Takagi, Kohsuke Imai, Hidetoshi Takada, Shouichi Ohga, Christoph Klein, Tomohiro Morio, Hirokazu Kanegane: Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation. Front Pediatr. 2019.02; 7 15. ( PubMed , DOI )

Nagatsuma Misako, Takasawa Kei, Yamauchi Takeru, Nakagawa Ryuichi, Mizuno Tomoko, Tanaka Eriko, Yamamoto Kouhei, Uemura Noriko, Kashimada Kenichi, Morio Tomohiro: 脂肪腫症、腎血管性高血圧および糖尿病を呈するSchimmelpenning症候群患者における接合後のKRAS変異(A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus) Journal of Human Genetics. 2019.02; 64 (2): 177-181. ( 医中誌 )

Ryu Yanagisawa, Yozo Nakazawa, Kazuyuki Matsuda, Takahiro Yasumi, Hirokazu Kanegane, Shouichi Ohga, Akira Morimoto, Yoshiko Hashii, Masue Imaizumi, Yasuhiro Okamoto, Akiko M Saito, Keizo Horibe, Eiichi Ishii, : Outcomes in children with hemophagocytic lymphohistiocytosis treated using HLH-2004 protocol in Japan. Int. J. Hematol. 2019.02; 109 (2): 206-213. ( PubMed , DOI )

Sato A, Ikawa Y, Inoue N, Kuroda M, Shimizu M, Yachie A: Massive intestinal liquid retention in a case of severe heat stroke. Journal of paediatrics and child health. 2019.02; 55 (2): 248-249. ( PubMed , DOI )

Fukuda Atsuna, Isoda Takeshi, Sakamoto Naoya, Nakajima Keisuke, Ohta Tetsuya: Lessons from a patient with cardiac arrest due to massive pulmonary embolism as the initial presentation of Wilms tumor: a case report and literature review BMC PEDIATRICS. 2019.01; 19 (1): 39. ( PubMed , DOI )

Yuki Yatsushiro, Takuro Nishikawa, Aki Saito, Yozo Nakazawa, Ken-Ichi Imadome, Shunsuke Nakagawa, Yuichi Kodama, Yasuhiro Okamoto, Hirokazu Kanegane, Yoshifumi Kawano: Epstein-Barr Virus (EBV)-induced B-cell Lymphoproliferative Disorder Mimicking the Recurrence of EBV-associated Hemophagocytic Lymphohistiocytosis. J. Pediatr. Hematol. Oncol. 2019.01; 41 (1): e44-e46. ( PubMed , DOI )

Egawa M, Imai K, Taketani Y, Morio T, Miyasaka N.: Two Prenatal Cases of Hyper-IgE Syndrome. J. Clin. Immunol.. 2019.01; ( PubMed , DOI )

Okano T, Imai K, Tsujita Y, Mitsuiki N, Yoshida K, Kamae C, Honma K, Mitsui-Sekinaka K, Sekinaka Y, Kato T, Hanabusa K, Endo E, Takashima T, Hiroki H, Yeh TW, Tanaka K, Nagahori M, Tsuge I, Bando Y, Iwasaki F, Shikama Y, Inoue M, Kimoto T, Moriguchi N, Yuza Y, Kaneko T, Suzuki K, Matsubara T, Maruo Y, Kunitsu T, Waragai T, Sano H, Hashimoto Y, Tasaki K, Suzuki O, Shirakawa T, Kato M, Uchiyama T, Ishimura M, Tauchi T, Yagasaki H, Jou ST, Yu HH, Kanegane H, Kracker S, Durandy A, Kojima D, Muramatsu H, Wada T, Inoue Y, Takada H, Kojima S, Ogawa S, Ohara O, Nonoyama S, Morio T.: Hematopoietic Stem Cell Transplantation for Progressive Combined Immunodeficiency and Lymphoproliferation in Activated PI3K Syndrome Type 1. J. Allergy Clin. Immunol.. 2019.01; 143 (1): 266-275. ( PubMed , DOI )

Mari Kubota-Tanaka, Tomoo Osumi, Shouko Miura, Hiroshi Tsujimoto, Toshihiko Imamura, Akira Nishimura, Kentaro Oki, Kozue Nakamura, Satoshi Miyamoto, Kento Inoue, Maiko Inoue, Takahiro Kamiya, Masakatsu Yanagimachi, Tsubasa Okano, Noriko Mitsuiki, Takeshi Isoda, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Shinji Kounami, Mikiya Endo, Motohiro Kato, Masatoshi Takagi: B-lymphoblastic lymphoma with the TCF3-PBX1 fusion gene. Haematologica. 2019.01; 104 (1): 35-37. ( PubMed , DOI )

Masatoshi Takagi, Chitose Ogawa, Yuki Aoki-Nogami, Tomoko Iehara, Eri Ishibashi, Minoru Imai, Tetsuro Kihara, Kiyoshi Nobori, Kazuhisa Hasebe, Shuki Mizutani, Toshimi Kimura, Masashi Nagata, Masato Yasuhara, Kenichi Yoshimura, Pariko Yorozu, Hajime Hosoi, Ryuji Koike: Phase I clinical study of oral olaparib in pediatric patients with refractory solid tumors: study protocol. BMC Pediatr. 2019.01; 19 (1): 31. ( PubMed , DOI )

Okamoto Nami, Yokota Shumpei, Takei Syuji, Okura Yuka, Kubota Tomohiro, Shimizu Masaki, Nozawa Tomo, Iwata Naomi, Umebayashi Hiroaki, Kinjo Noriko, Kunishima Tomoko, Yasumura Junko, Mori Masaaki: Clinical practice guidance for juvenile idiopathic arthritis (JIA) 2018 MODERN RHEUMATOLOGY. 2019.01; 29 (1): 41-59. ( PubMed , DOI )

Kei Takasawa, Atsumi Tsuji-Hosokawa, Shigeru Takishima, Yasunori Wada, Keisuke Nagasaki, Sumito Dateki, Chikahiko Numakura, Atsushi Hijikata, Tsuyoshi Shirai, Kenichi Kashimada, Tomohiro Morio: Clinical characteristics of adolescent cases with type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of INSR. J Diabetes. 2019.01; 11 (1): 46-54. ( PubMed , DOI )

Okamoto Nami, Yokota Shumpei, Takei Syuji, Okura Yuka, Kubota Tomohiro, Shimizu Masaki, Nozawa Tomo, Iwata Naomi, Umebayashi Hiroaki, Kinjo Noriko, Kunishima Tomoko, Yasumura Junko, Mori Masaaki: 若年性特発性関節炎(JIA)診療ガイドライン2018(Clinical practice guidance for juvenile idiopathic arthritis(JIA) 2018) Modern Rheumatology. 2019.01; 29 (1): 41-59. ( 医中誌 )

Sahoko Ono, Junko Matsuda, Etsuko Watanabe, Hiroto Akaike, Hideto Teranishi, Ippei Miyata, Takanobu Otomo, Yoshito Sadahira, Tatsuki Mizuochi, Hironori Kusano, Masayoshi Kage, Hiroo Ueno, Kenichi Yoshida, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Yasuhide Hayashi, Hirokazu Kanegane, Kazunobu Ouchi: Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. Hum Genome Var. 2019.01; 6 2. ( PubMed , DOI )

Shimizu M, Nakase J, Yachie A: Infrapatellar Ganglion Cyst of the Knee Fat Pad in a Child with Juvenile Idiopathic Arthritis. The Journal of rheumatology. 2019.01; 46 (1): 112. ( PubMed , DOI )

Shimizu M, Inoue N, Mizuta M, Nakagishi Y, Yachie A: Serum Leucine-Rich α2-Glycoprotein as a Biomarker for Monitoring Disease Activity in Patients with Systemic Juvenile Idiopathic Arthritis. Journal of immunology research. 2019; 2019 3140204. ( PubMed , DOI )

Shigeta N, Nakamura H, Kumasawa K, Imai K, Saito S, Sakaguchi S, Kimura T.: Are naïve T cells and class-switched memory (IgD- CD27+) B cells not essential for establishment and maintenance of pregnancy? Insights from a case of common variable immunodeficiency with pregnancy. Med. Hypotheses. 2018.12; 121 36-41. ( PubMed , DOI )

Isoda Takeshi, Takagi Masatoshi: Non-coding RNA transcription modulates nuclear architecture to specify T-cell fate and blocks T-cell malignancies. CANCER SCIENCE. 2018.12; 109 346.

Takai S, Takasawa K, Doi S: Atypical coronary artery aneurysms due to Kawasaki disease in Noonan syndrome with a novel PTPN11 mutation. Cardiol Young. 2018.12; 4 1-3. ( DOI )

Hirokazu Kanegane: Inflammatory bowel diseases and primary immunodeficiency diseases. Immunol Med. 2018.12; 41 (4): 154-161. ( PubMed , DOI )

Shimizu M, Saikawa Y, Yachie A: Role of 18-fluoro-2-deoxyglucose positron emission tomography in detecting acute inflammatory lesions of non-bacterial osteitis in patients with a fever of unknown origin: A comparative study of 18-fluoro-2-deoxyglucose positron emission tomography, bone scan, and magnetic resonance imaging. Modern rheumatology. 2018.11; 28 (6): 1058-1062. ( PubMed , DOI )

Isoda T, Nishimura A, Miyamoto S, Morio T, Takagi M, Murre C: Non-Coding RNA ThymoD Transcription Modulates Nuclear Architecture to Orchestrate T-Cell Fate and Block T-Cell Malignancies. PEDIATRIC BLOOD & CANCER. 2018.11; 65 S4.

Jolles S, Rojavin MA, Lawo JP, Nelson R Jr, Wasserman RL, Borte M, Tortorici MA, Imai K, Kanegane H.: Long-Term Efficacy and Safety of Hizentra® in Patients with Primary Immunodeficiency in Japan, Europe, and the United States: a Review of 7 Phase 3 Trials. J. Clin. Immunol.. 2018.11; ( PubMed , DOI )

Nagatsuma M, Takasawa K, Yamauchi T, Nakagawa R, Mizuno T, Tanaka E, Yamamoto K, Uemura N, Kashimada K, Morio T: A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus. Journal of human genetics. 2018.11; ( PubMed , DOI )

Inoue Kento, Kamiya Takahiro, Miura Hiroki, Inoue Maiko, Yanagimachi Masakatsu, Park Myoung-Ja, Imai Kohsuke, Takagi Masatoshi, Yoshikawa Tetsushi, Kanegane Hirokazu, Morio Tomohiro: 染色体性に組み込まれたヒトヘルペスウイルス6に関連するXIAP欠損に対する造血幹細胞移植(Hematopoietic stem cell transplantation for XIAP deficiency with chromosomally integrated human herpesvirus 6) 日本小児感染症学会総会・学術集会プログラム・抄録集. 2018.11; 50回 335. ( 医中誌 )

Inoue Maiko, Isoda Takeshi, Matsumoto Kazuaki, Inoue Kento, Kamiya Takahiro, Yanagimachi Masakatsu, Takagi Masatoshi, Kanegane Hirokazu, Imai Kohsuke, Morio Tomohiro: 原発性複合免疫不全症におけるサイトメガロウイルス喉頭炎(Cytomegalovirus laryngitis in primary combined immunodeficiency diseases) 日本小児感染症学会総会・学術集会プログラム・抄録集. 2018.11; 50回 318. ( 医中誌 )

Tanita Kay, Inoue Kento, Kamiya Takahiro, Imadome Ken-ichi, Hoshino Akihiro, Yanagimachi Masakatsu, Shiraishi Akira, Ohga Shouichi, Takada Hidetoshi, Kanegane Hirokazu, Morio Tomohiro: EBV感染およびγc欠損症発現低下に関連するγδTリンパ球増殖(γδT lymphoproliferation associated with EBV infection and hypomorphic γc deficiency) 日本小児感染症学会総会・学術集会プログラム・抄録集. 2018.11; 50回 356. ( 医中誌 )

Shimizu Masaki, Saikawa Yutaka, Yachie Akihiro: 原因不明熱を呈する非細菌性骨炎患者の急性炎症性病変検出における18-フルオロ-2-デオキシグルコース陽電子放出断層撮影の役割　18-フルオロ-2-デオキシグルコース陽電子放射型断層撮影法、骨スキャン、磁気共鳴画像法の比較研究(Role of 18-fluoro-2-deoxyglucose positron emission tomography in detecting acute inflammatory lesions of non-bacterial osteitis in patients with a fever of unknown origin: A comparative study of 18-fluoro-2-deoxyglucose positron emission tomography, bone scan, and magnetic resonance imaging) Modern Rheumatology. 2018.11; 28 (6): 1058-1062. ( 医中誌 )

Acerini CL, Segal D, Criseno S, Takasawa K, Nedjatian N, Röhrich S, Maghnie M.: Shared Decision-Making in Growth Hormone Therapy – Implications for Patient Care Front Endocrinol (Lausanne). 2018.11; 22 (9): 688.

Rajiv Mallick, Stephen Jolles, Hirokazu Kanegane, Dominique Agbor-Tarh, Mikhail Rojavin: Treatment Satisfaction with Subcutaneous Immunoglobulin Replacement Therapy in Patients with Primary Immunodeficiency: a Pooled Analysis of Six Hizentra® Studies. J. Clin. Immunol.. 2018.11; 38 (8): 886-897. ( PubMed , DOI )

Akihiro Tamura, Suguru Uemura, Nobuyuki Yamamoto, Atsuro Saito, Aiko Kozaki, Kenji Kishimoto, Toshiaki Ishida, Daiichiro Hasegawa, Haruka Hiroki, Tsubasa Okano, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane, Yoshiyuki Kosaka: Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1. Allergy Asthma Clin Immunol. 2018.11; 14 82. ( PubMed , DOI )

Sakumura N, Shimizu M, Mizuta M, Inoue N, Nakagishi Y, Yachie A: Soluble CD163, a unique biomarker to evaluate the disease activity, exhibits macrophage activation in systemic juvenile idiopathic arthritis. Cytokine. 2018.10; 110 459-465. ( PubMed , DOI )

Takakura M, Shimizu M, Yakoyama T, Mizuta M, Yachie A: Transient natural killer cell dysfunction associated with interleukin-18 overproduction in systemic juvenile idiopathic arthritis. Pediatrics international : official journal of the Japan Pediatric Society. 2018.10; 60 (10): 984-985. ( PubMed , DOI )

Takakura Maiko, Shimizu Masaki, Yakoyama Tadafumi, Mizuta Mao, Yachie Akihiro: 全身性若年性特発性関節炎において一過性ナチュラルキラー細胞機能不全はインターロイキン-18過剰産生と関連する(Transient natural killer cell dysfunction associated with interleukin-18 overproduction in systemic juvenile idiopathic arthritis) Pediatrics International. 2018.10; 60 (10): 984-985. ( 医中誌 )

Chikako Kamae, Kohsuke Imai, Tamaki Kato, Tsubasa Okano, Kenichi Honma, Noriko Nakagawa, Tzu-Wen Yeh, Emiko Noguchi, Akira Ohara, Tomonari Shigemura, Hiroshi Takahashi, Shunichi Takakura, Masatoshi Hayashi, Aoi Honma, Seiichi Watanabe, Tomoko Shigemori, Osamu Ohara, Hiroyuki Sasaki, Takeo Kubota, Tomohiro Morio, Hirokazu Kanegane, Shigeaki Nonoyama: Clinical and Immunological Characterization of ICF Syndrome in Japan. J. Clin. Immunol.. 2018.10; 38 (8): 927-937. ( PubMed , DOI )

Chelisa Cardinez, Bahar Miraghazadeh, Kay Tanita, Elizabeth da Silva, Akihiro Hoshino, Satoshi Okada, Rochna Chand, Takaki Asano, Miyuki Tsumura, Kenichi Yoshida, Hidenori Ohnishi, Zenichiro Kato, Masahide Yamazaki, Yusuke Okuno, Satoru Miyano, Seiji Kojima, Seishi Ogawa, T Daniel Andrews, Matthew A Field, Gaetan Burgio, Tomohiro Morio, Carola G Vinuesa, Hirokazu Kanegane, Matthew C Cook: Gain-of-function IKBKB mutation causes human combined immune deficiency. J. Exp. Med.. 2018.10; 215 (11): 2715-2724. ( PubMed , DOI )

Akihiro Hoshino, Xi Yang, Kay Tanita, Kenichi Yoshida, Toshiaki Ono, Naonori Nishida, Yusuke Okuno, Takeyuki Kanzaki, Kumiko Goi, Hisanori Fujino, Koichi Ohshima, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Tomohiro Morio, Hirokazu Kanegane: Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1. J. Allergy Clin. Immunol.. 2018.10; 413 (1): 421-424. ( PubMed , DOI )

Takashi Taga, Toshihiko Imamura, Kentaro Nakashima, Naoko Maeda, Akihiro Watanabe, Yuji Miyajima, Sachi Sakaguchi, Hitoshi Sano, Daiichiro Hasegawa, Hirohide Kawasaki, Souichi Adachi, Masatoshi Takagi, Katsuyoshi Koh, Atsushi Manabe, Tomohiko Taki, Yasushi Ishida: Clinical characteristics of pediatric patients with myeloid sarcoma without bone marrow involvement in Japan. Int J Hematol. 2018.10; 108 (4): 438-442. ( PubMed , DOI )

神谷 尚宏, Wong Desmond, Png Yi Tian, Campana Dario: PEBLs(タンパク発現阻害配列)による、より安全で効果的な同種CAR-T療法の開発(Protein expression blockers(PEBLs) for safer and effective allogenic CAR-T cell therapy) 臨床血液. 2018.09; 59 (9): 1586. ( 医中誌 )

Shimizu Masaki, Mizuta Mao, Yasumi Takahiro, Iwata Naomi, Okura Yuka, Kinjo Noriko, Umebayashi Hiroaki, Kubota Tomohiro, Nakagishi Yasuo, Nishimura Kenichi, Yashiro Masato, Yasumura Junko, Yamazaki Kazuko, Wakiguchi Hiroyuki, Okamoto Name, Mori Masaaki: Validation of Classification Criteria of Macrophage Activation Syndrome in Japanese Patients With Systemic Juvenile Idiopathic Arthritis ARTHRITIS CARE & RESEARCH. 2018.09; 70 (9): 1412-1415. ( PubMed , DOI )

Mako Okabe, Keiichi Hirono, Kentaro Tamura, Fukiko Ichida, Hirokazu Kanegane: Reactive peripheral blood plasmacytosis in Kawasaki disease. Pediatr Int. 2018.09; 60 (9): 884-885. ( PubMed , DOI )

Kubota Tomohiro, Takei Syuji, Shimizu Masaki, Yasumura Junko, Nakagishi Yasuo, Kizawa Toshitaka, Yashiro Masato, Wakiguchi Hiroyuki, Yamasaki Yuichi, Kawano Yoshifumi: 多関節型若年性特発性関節炎に対して初回導入した生物学的製剤の2年以上の有効性に関する早期予測　日本における多施設共同研究(Early prediction for over two years efficacy of the first biologic agent for polyarticular juvenile idiopathic arthritis: A multi-institutional study in Japan) Modern Rheumatology. 2018.09; 28 (5): 826-831. ( 医中誌 )

Osumi, T; Mori, T; Ueyama, JI; Fukano, R; Sekimizu, M; Takagi, M; Yagasaki, H; Nishimura, R; Ikeda, J; Ogura, T; Fujimura, J; Kobayashi, R: Intrathecal or intraventricular infusion of rituximab for children with B-cell lymphoid malignancies and central nervous system disease BRITISH JOURNAL OF HAEMATOLOGY. 2018.09; 182 72.

Osumi, T; Mori, T; Ueyama, JI; Fukano, R; Sekimizu, M; Takagi, M; Yagasaki, H; Nishimura, R; Ikeda, J; Ogura, T; Fujimura, J; Kobayashi, R: Intrathecal or intraventricular infusion of rituximab for children with B-cell lymphoid malignancies and central nervous system disease BRITISH JOURNAL OF HAEMATOLOGY. 2018.09; 182 72.

Ono Shintaro, Nakayama Manabu, Kanegane Hirokazu, Hoshino Akihiro, Shimodera Saeko, Shibata Hirofumi, Fujino Hisanori, Fujino Takahiro, Yunomae Yuta, Okano Tsubasa, Yamashita Motoi, Yasumi Takahiro, Izawa Kazushi, Takagi Masatoshi, Imai Kohsuke, Zhang Kejian, Marsh Rebecca, Picard Capucine, Latour Sylvain, Ohara Osamu, Morio Tomohiro: 次世代シークエンスを用いたEpstein-Barrウイルス関連リンパ増殖性疾患の包括的分子診断(Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing) International Journal of Hematology. 2018.09; 108 (3): 319-328. ( 医中誌 )

Ono Shintaro, Nakayama Manabu, Kanegane Hirokazu, Hoshino Akihiro, Shimodera Saeko, Shibata Hirofumi, Fujino Hisanori, Fujino Takahiro, Yunomae Yuta, Okano Tsubasa, Yamashita Motoi, Yasumi Takahiro, Izawa Kazushi, Takagi Masatoshi, Imai Kohsuke, Zhang Kejian, Marsh Rebecca, Picard Capucine, Latour Sylvain, Ohara Osamu, Morio Tomohiro: 次世代シークエンスを用いたEpstein-Barrウイルス関連リンパ増殖性疾患の包括的分子診断(Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing) International Journal of Hematology. 2018.09; 108 (3): 319-328. ( 医中誌 )

Kubota T, Takei S, Shimizu M, Yasumura J, Nakagishi Y, Kizawa T, Yashiro M, Wakiguchi H, Yamasaki Y, Kawano Y: Early prediction for over two years efficacy of the first biologic agent for polyarticular juvenile idiopathic arthritis: A multi-institutional study in Japan. Modern rheumatology. 2018.09; 28 (5): 826-831. ( PubMed , DOI )

Atsumi Tsuji-Hosokawa, Kenichi Kashimada, Tomoko Kato, Yuya Ogawa, Risa Nomura, Kei Takasawa, Rowena Lavery, Andrea Coschiera, David Schlessinger, Vincent R Harley, Shuji Takada, Tomohiro Morio: Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development. Sci Rep. 2018.09; 8 (1): 13263. ( PubMed , DOI )

Okamoto Nami, Shabana Kosuke, Nakagishi Yasuo, Nishimura Kenichi, Mizuta Mao, Okura Yuka, Shimizu Masaki, Wakiguchi Hiroyuki, Yasumura Junko, Mori Masaaki: Methotrexate Polyglutamates As an Evaluation Tool for Appropriate Dosage of Oral Methotrexate Administration in Pediatric Patients ARTHRITIS & RHEUMATOLOGY. 2018.09; 70

Shimizu M, Mizuta M, Usami M, Inoue N, Sakakibara Y, Yamada K, Konishi M, Ohta K, Yachie A: Clinical significance of serum soluble TNF receptor II level and soluble TNF receptor II/I ratio as indicators of coronary artery lesion development in Kawasaki disease. Cytokine. 2018.08; 108 168-172. ( PubMed , DOI )

David Boutboul, Hye Sun Kuehn, Zoé Van de Wyngaert, Julie E Niemela, Isabelle Callebaut, Jennifer Stoddard, Christelle Lenoir, Vincent Barlogis, Catherine Farnarier, Frédéric Vely, Nao Yoshida, Seiji Kojima, Hirokazu Kanegane, Akihiro Hoshino, Fabian Hauck, Ludovic Lhermitte, Vahid Asnafi, Philip Roehrs, Shaoying Chen, James W Verbsky, Katherine R Calvo, Ammar Husami, Kejian Zhang, Joseph Roberts, David Amrol, John Sleaseman, Amy P Hsu, Steven M Holland, Rebecca Marsh, Alain Fischer, Thomas A Fleisher, Capucine Picard, Sylvain Latour, Sergio D Rosenzweig: Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. J. Clin. Invest.. 2018.07; 128 (7): 3071-3087. ( PubMed , DOI )

Rawat A, Mathew B, Pandiarajan V, Jindal A, Sharma M, Suri D, Gupta A, Goel S, Karim A, Saikia B, Minz RW, Imai K, Nonoyama S, Ohara O, Giliani SC, Notarangelo LD, Chan KW, Lau YL, Singh S.: Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India. Clin. Immunol.. 2018.07; 195 59-66. ( PubMed , DOI )

Imamura T, Taga T, Takagi M, Kawasaki H, Koh K, Taki T, Adachi S, Manabe A, Ishida Y; Leukemia/Lymphoma Committee; Japanese Society of Pediatric Hematology Oncology (JSPHO).: Nationwide survey of therapy-related leukemia in childhood in Japan. International Journal of Hematology. 2018.07; 108 (1): 91-97. ( PubMed , DOI , 医中誌 )

Akihiro Hoshino, Kay Tanita, Kenji Kanda, Ken-Ichi Imadome, Yoshiaki Shikama, Takahiro Yasumi, Kohsuke Imai, Masatoshi Takagi, Tomohiro Morio, Hirokazu Kanegane: High frequencies of asymptomatic Epstein-Barr virus viremia in affected and unaffected individuals with CTLA4 mutations. Clin. Immunol.. 2018.07; 195 45-48. ( PubMed , DOI )

Kunihiko Moriya, Yoji Sasahara, Hidenori Ohnishi, Tomoki Kawai, Hirokazu Kanegane: IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. J. Clin. Immunol.. 2018.07; 38 (5): 543-545. ( PubMed , DOI )

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Takahiro Kamiya, Desmond Wong, Yi Tian Png, Dario Campana: A novel method to generate T-cell receptor-deficient chimeric antigen receptor T cells. Blood Adv. 2018.03; 2 (5): 517-528. ( PubMed , DOI )

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Yasuyoshi Ishiwata, Masashi Nagata, Kohta Tsuge, Hiromitsu Takahashi, Sayo Suzuki, Kohsuke Imai, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio, Masato Yasuhara: Population Pharmacokinetics of Intravenous Busulfan in Japanese Pediatric Patients With Primary Immunodeficiency Diseases. J Clin Pharmacol. 2018.03; 58 (3): 327-331. ( PubMed , DOI )

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Federica Barzaghi, Laura Cristina Amaya Hernandez, Benedicte Neven, Silvia Ricci, Zeynep Yesim Kucuk, Jack J Bleesing, Zohreh Nademi, Mary Anne Slatter, Erlinda Rose Ulloa, Anna Shcherbina, Anna Roppelt, Austen Worth, Juliana Silva, Alessandro Aiuti, Luis Murguia-Favela, Carsten Speckmann, Magda Carneiro-Sampaio, Juliana Folloni Fernandes, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner, Ayca Kiykim, Ansgar Schulz, Sandra Steinmann, Lucia Dora Notarangelo, Eleonora Gambineri, Paolo Lionetti, William Thomas Shearer, Lisa R Forbes, Caridad Martinez, Despina Moshous, Stephane Blanche, Alain Fisher, Frank M Ruemmele, Come Tissandier, Marie Ouachee-Chardin, Frédéric Rieux-Laucat, Marina Cavazzana, Waseem Qasim, Barbarella Lucarelli, Michael H Albert, Ichiro Kobayashi, Laura Alonso, Cristina Diaz De Heredia, Hirokazu Kanegane, Anita Lawitschka, Jong Jin Seo, Marta Gonzalez-Vicent, Miguel Angel Diaz, Rakesh Kumar Goyal, Martin G Sauer, Akif Yesilipek, Minsoo Kim, Yesim Yilmaz-Demirdag, Monica Bhatia, Julie Khlevner, Erick J Richmond Padilla, Silvana Martino, Davide Montin, Olaf Neth, Agueda Molinos-Quintana, Justo Valverde-Fernandez, Arnon Broides, Vered Pinsk, Antje Ballauf, Filomeen Haerynck, Victoria Bordon, Catharina Dhooge, Maria Laura Garcia-Lloret, Robbert G Bredius, Krzysztof Kałwak, Elie Haddad, Markus Gerhard Seidel, Gregor Duckers, Sung-Yun Pai, Christopher C Dvorak, Stephan Ehl, Franco Locatelli, Frederick Goldman, Andrew Richard Gennery, Mort J Cowan, Maria-Grazia Roncarolo, Rosa Bacchetta, : Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study. J Allergy Clin Immunol. 2018.03; 141 (3): 1036-1049.e5. ( PubMed , DOI )

Yuji Sugawara, Kohsuke Imai, Ayako Kashimada, Kengo Moriyama, Shimpei Baba, Ryuta Nishikomori, Mizuho Motegi, Yasuo Takeuchi, Tomohiro Morio: Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features J. Allergy Clin. Immunol. 2018.03; 141 (3): 1135-1138. ( PubMed , DOI )

Kinjo N, Hamada K, Hirayama C, Shimizu M: Role of plasma exchange, leukocytapheresis, and plasma diafiltration in management of refractory macrophage activation syndrome. Journal of clinical apheresis. 2018.02; 33 (1): 117-120. ( PubMed , DOI )

Takasawa Kei, Nakagawa Ryuichi, Takishima Shigeru, Moriyama Kengo, Watanabe Ken, Kiyohara Koji, Hasegawa Takeshi, Shimohira Masahiro, Kashimada Kenichi, Shimizu Norio, Morio Tomohiro: 迅速かつ網羅的なウイルス検査システムによって診断した日本人小児の急性脳炎/脳症の原因と臨床症状の違い(Cause of acute encephalitis/encephalopathy in Japanese children diagnosed by a rapid and comprehensive virological detection system and differences in their clinical presentations) Brain & Development. 2018.02; 40 (2): 107-115. ( 医中誌 )

Ryuichi Nakagawa, Kei Takasawa, Tzu-Wen Yeh, Kohsuke Imai, Kenichi Kashimada, Tomohiro Morio: Type 1 Diabetes Mellitus Associated with Activated Phosphoinositide-3-kinase Delta Syndrome, Type 2. J Diabetes. 2018.02; 10 (5): 421-422. ( PubMed , DOI )

Tasaki Y, Shimizu M, Takarkura M, Ohta K, Yachie A: Urinary aquaporin-2 as a possible objective biomarker of nocturnal polyuria. Pediatrics international : official journal of the Japan Pediatric Society. 2018.02; 60 (2): 192-194. ( PubMed , DOI )

Tasaki Yuko, Shimizu Masaki, Takarkura Maiko, Ohta Kazuhide, Yachie Akihiro: 夜間多尿の客観的バイオマーカーになり得る尿中aquaporin-2(Urinary aquaporin-2 as a possible objective biomarker of nocturnal polyuria) Pediatrics International. 2018.02; 60 (2): 192-194. ( 医中誌 )

Masatoshi Takagi, Akihiro Hoshino, Kenichi Yoshida, Hiroo Ueno, Kohsuke Imai, Jinhua Piao, Hirokazu Kanegane, Motoi Yamashita, Tsubasa Okano, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Yasuhide Hayashi, Seiji Kojima, Tomohiro Morio: Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation. Pediatr Blood Cancer. 2018.02; 65 (2): ( PubMed , DOI )

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Tomohiro Ishii, Masanori Adachi, Kei Takasawa, Satoshi Okada, Hotaka Kamasaki, Takuo Kubota, Hironori Kobayashi, Hirotake Sawada, Keisuke Nagasaki, Chikahiko Numakura, Shohei Harada, Kanshi Minamitani, Shigetaka Sugihara, Toshihiro Tajima: Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan. Horm Res Paediatr. 2018.02; 89 (3): 166-171. ( PubMed , DOI )

Ayako Kashimada, Setsuko Hasegawa, Takeo Isagai, Tsuyoshi Uchiyama, Muneaki Matsuo, Motoharu Kawai, Masahide Goto, Tomohiro Morio, Yukiko K Hayashi, Masatoshi Takagi: Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome J. Neurol. Sci.. 2018.02; 385 49-56. ( PubMed , DOI )

Matsuda Nozomi, Taki Atsuko, Tsuji Atsumi, Nakajima Keisuke, Takasawa Kei, Morioka Chikako, Minosaki Yoshihiro, Oku Kikuko, Kashimada Kenichi, Morio Tomohiro: 在胎週数の割に小さく産まれた超低出生体重児における3歳時点での成長と発達に影響を与える周産期要因(Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age) Clinical Pediatric Endocrinology. 2018.01; 27 (1): 31-38. ( 医中誌 )

Tsujita Y, Imai K, Honma K, Kamae C, Horiuchi T, Nonoyama S: A Severe Anaphylactic Reaction Associated with IgM-Class Anti-Human IgG Antibodies in a Hyper-IgM Syndrome Type 2 Patient J. Clin. Immunol. 2018.01; 38 (1): 144-148. ( PubMed , DOI )

Kevin Y Urayama, Masatoshi Takagi, Takahisa Kawaguchi, Keitaro Matsuo, Yoichi Tanaka, Yoko Ayukawa, Yuki Arakawa, Daisuke Hasegawa, Yuki Yuza, Takashi Kaneko, Yasushi Noguchi, Yuichi Taneyama, Setsuo Ota, Takeshi Inukai, Masakatsu Yanagimachi, Dai Keino, Kazutoshi Koike, Daisuke Toyama, Yozo Nakazawa, Hidemitsu Kurosawa, Kozue Nakamura, Koichi Moriwaki, Hiroaki Goto, Yujin Sekinaka, Daisuke Morita, Motohiro Kato, Junko Takita, Toshihiro Tanaka, Johji Inazawa, Katsuyoshi Koh, Yasushi Ishida, Akira Ohara, Shuki Mizutani, Fumihiko Matsuda, Atsushi Manabe: Regional evaluation of childhood acute lymphoblastic leukemia genetic susceptibility loci among Japanese. Sci Rep. 2018.01; 8 (1): 789. ( PubMed , DOI )

Kaneko R, Yamamoto S, Okamoto N, Akiyama K, Matsuno R, Toyama D, Hoshino A, Imai K, Isoyama K: Wiskott-Aldrich syndrome that was initially diagnosed as immune thrombocytopenic purpura secondary to a cytomegalovirus infection SAGE Open Med Case Rep. 2018.01; 6 2050313X17753788. ( PubMed , DOI )

Kei Takasawa, Maki Igarashi, Makoto Ono, Akira Takemoto, Shuji Takada, Atsuyuki Yamataka, Tsutomu Ogata, Tomohiro Morio, Maki Fukami, Kenichi Kashimada: Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review Sex Dev. 2018.01; 11 (5-6): 284-288. ( PubMed , DOI )

Hirokazu Kanegane, Akihiro Hoshino, Tsubasa Okano, Takahiro Yasumi, Taizo Wada, Hidetoshi Takada, Satoshi Okada, Motoi Yamashita, Tzu-Wen Yeh, Ryuta Nishikomori, Masatoshi Takagi, Kohsuke Imai, Hans D Ochs, Tomohiro Morio: Flow cytometry-based diagnosis of primary immunodeficiency diseases Allergol Int. 2018.01; ( PubMed , DOI )

Acerini CL, Segal D, Criseno S, Takasawa K, Nedjatian N, Röhrich S, Maghnie M: Shared Decision-Making in Growth Hormone Therapy-Implications for Patient Care. Frontiers in endocrinology. 2018; 9 688. ( PubMed , DOI )

Kurokami Tsunehiko, Takasawa Reiko, Takeda Sayaka, Kurobe Masashi, Takasawa Kei, Nishioka Masato, Shimohira Masayuki: Venous thromboembolism in two adolescents with Down syndrome TURKISH JOURNAL OF PEDIATRICS. 2018; 60 (4): 429-432. ( DOI )

Kurokami T, Takasawa R, Takeda S, Kurobe M, Takasawa K, Nishioka M, Shimohira M: Venous thromboembolism in two adolescents with Down syndrome. The Turkish journal of pediatrics. 2018; 60 (4): 429-432. ( PubMed )

Niida Y, Ozaki M, Shimizu M, Ueno K, Tanaka T: Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each Pattern. Cytogenetic and genome research. 2018; 154 (3): 137-146. ( PubMed , DOI )

Shimizu M, Inoue N, Kuroda M, Irabu H, Takakura M, Kaneda H, Sugimoto N, Ohta K, Yachie A: Serum ferritin as an indicator of the development of encephalopathy in enterohemorrhagic Escherichia coli-induced hemolytic uremic syndrome. Clinical and experimental nephrology. 2017.12; 21 (6): 1083-1087. ( PubMed , DOI )

Tomoko Mizuno, Satoko Kumada, Rie Naito: Sleep-Related Laryngeal Stridor in Opsoclonus Myoclonus Syndrome. Pediatr. Neurol.. 2017.12; 77 91. ( PubMed , DOI )

Mizuta M, Shimizu M, Nakagishi Y, Kasai K, Yachie A: Bicipital synovial cyst associated with systemic juvenile idiopathic arthritis: new insights obtained from unique pathological findings. International journal of rheumatic diseases. 2017.12; 20 (12): 2242-2244. ( PubMed , DOI )

Masayuki Nagasawa, Noriko Mitsuiki, Yuki Aoki, Toshiaki Ono, Takeshi Isoda, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Hirokazu Kanegane, Tomohiro Morio: Effect of reduced-intensity conditioning and the risk of late-onset non-infectious pulmonary complications in pediatric patients Eur. J. Haematol. 2017.12; 99 (6): 525-531. ( PubMed , DOI )

Shimizu Masaki, Inoue Natsumi, Kuroda Mondo, Irabu Hitoshi, Takakura Maiko, Kaneda Hisashi, Sugimoto Naotoshi, Ohta Kazuhide, Yachie Akihiro: 腸管出血性大腸菌誘発性の溶血性尿毒症症候群における脳障害発症の指標としての血清フェリチン(Serum ferritin as an indicator of the development of encephalopathy in enterohemorrhagic Escherichia coli-induced hemolytic uremic syndrome) Clinical and Experimental Nephrology. 2017.12; 21 (6): 1083-1087. ( 医中誌 )

Yi Tian Png, Natasha Vinanica, Takahiro Kamiya, Noriko Shimasaki, Elaine Coustan-Smith, Dario Campana: Blockade of CD7 expression in T cells for effective chimeric antigen receptor targeting of T-cell malignancies. Blood Adv. 2017.11; 1 (25): 2348-2360. ( PubMed , DOI )

Miyamoto Satoshi, Takagi Masatoshi, Nishimura Akira, Tanaka Mari, Ono Shintaro, Ashiarai Miho, Mitsuiki Noriko, Hoshino Akihiro, Yanagimachi Masakatsu, Aoki Yuki, Tomizawa Daisuke, Imai Kohsuke, Kajiwara Michiko, Kanegane Hirokazu, Morio Tomohiro: A 7-year-old Girl who Maintains Complete Remission after Multiple Hematopoietic Cell Transplantation for Frequent Relapse of Infant Leukemia PEDIATRIC BLOOD & CANCER. 2017.11; 64 S92-S93.

Masatoshi Takagi, Misa Yoshida, Yoshino Nemoto, Hiroyuki Tamaichi, Rika Tsuchida, Masafumi Seki, Kumiko Uryu, Noriko Hoshino, Rina Nishii, Satoshi Miyamoto, Masahiro Saito, Toshiaki Shimizu, Ryoji Hanada, Hideo Kaneko, Toshiyuki Fukao, Takatoshi Koyama, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Yusuke Sato, Yoichi Fujii, Keisuke Kataoka, Yusuke Okuno, Kenichi Yoshida, Tomohiro Morio, Akira Oka, Miki Ohira, Yasuhide Hayashi, Akira Nakagawara, Seishi Ogawa, Shuki Mizutani, Junko Takita.: Loss of DNA Damage Response in Neuroblastoma and Utility of a PARP Inhibitor. J. Natl. Cancer Inst.. 2017.11; 109 (11): ( PubMed , DOI )

Kaoru Satoh, Yoko Wakejima, Maki Gau, Tomoyuki Kiguchi, Nozomi Matsuda, Reiko Takasawa, Kei Takasawa, Masato Nishioka, Masayuki Shimohira: Risk of coronary artery lesions in young infants with Kawasaki disease: need for a new diagnostic method. Int J Rheum Dis. 2017.11; ( PubMed , DOI )

Nagasaki Keisuke, Kubota Takuo, Kobayashi Hironori, Sawada Hirotake, Numakura Chikahiko, Harada Shohei, Takasawa Kei, Minamitani Kanshi, Ishii Tomohiro, Okada Satoshi, Kamasaki Hotaka, Sugihara Shigetaka, Adachi Masanori, Tajima Toshihiro: 日本における先天性中枢性甲状腺機能低下症を伴う中隔視神経形成異常症の臨床的特徴(Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan) Clinical Pediatric Endocrinology. 2017.10; 26 (4): 207-213. ( 医中誌 )

Atsumi Tsuji-Hosokawa, Kei Takasawa, Risa Nomura, Yuichi Miyakawa, Chikahiko Numakura, Atsushi Hijikata, Tsuyoshi Shirai, Yoshihiro Ogawa, Kenichi Kashimada, Tomohiro Morio: Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases. Pediatr Diabetes. 2017.10; 18 (8): 917-924. ( PubMed , DOI )

Shimizu Masaki, Mizuta Mao, Yasumi Takahiro, Iwata Naomi, Okura Yuka, Kinjo Noriko, Umebayashi Hiroaki, Kubota Tomohiro, Nakagishi Yasuo, Nishimura Kenichi, Yashiro Masato, Yasumura Junko, Yamazaki Kazuko, Wakiguchi Hiroyuki, Okamoto Nami, Mori Masaaki: Validation of 2016 ACR/EULAR Classification Criteria of Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis in Japanese Patients ARTHRITIS & RHEUMATOLOGY. 2017.10; 69

Nagai T, Uemura O, Kaneda H, Ushijima K, Ohta K, Gotoh Y, Satomura K, Shimizu M, Fujieda M, Morooka M, Yamada T, Yamada M, Wada N, Hashimoto Y: The true distribution volume and bioavailability of mizoribine in children with chronic kidney disease. Clinical and experimental nephrology. 2017.10; 21 (5): 884-888. ( PubMed , DOI )

Nagai Takuhito, Uemura Osamu, Kaneda Hisashi, Ushijima Katsumi, Ohta Kazuhide, Gotoh Yoshimitsu, Satomura Kenichi, Shimizu Masaki, Fujieda Mikiya, Morooka Masashi, Yamada Takuji, Yamada Masayoshi, Wada Naohiro, Hashimoto Yukiya: 慢性腎臓病を有する小児におけるミゾリビンの真の分布容積およびバイオアベイラビリティ(The true distribution volume and bioavailability of mizoribine in children with chronic kidney disease) Clinical and Experimental Nephrology. 2017.10; 21 (5): 884-888. ( 医中誌 )

M Ratnaparkhe, M Hlevnjak, T Kolb, A Jauch, K K Maass, F Devens, A Rode, V Hovestadt, A Korshunov, A Pastorczak, W Mlynarski, S Sungalee, J Korbel, J Hoell, U Fischer, T Milde, C Kramm, M Nathrath, K Chrzanowska, E Tausch, M Takagi, T Taga, S Constantini, J Loeffen, J Meijerink, S Zielen, G Gohring, B Schlegelberger, E Maass, R Siebert, J Kunz, A E Kulozik, B Worst, D T Jones, S M Pfister, M Zapatka, P Lichter, A Ernst: Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. Leukemia. 2017.10; 31 (10): 2048-2056. ( PubMed , DOI )

Kei Takasawa, Ryuichi Nakagawa, Shigeru Takishima, Kengo Moriyama, Ken Watanabe, Koji Kiyohara, Takeshi Hasegawa, Masahiro Shimohira, Kenichi Kashimada, Norio Shimizu, Tomohiro Morio: Cause of acute encephalitis/encephalopathy in Japanese children diagnosed by a rapid and comprehensive virological detection system and differences in their clinical presentations. Brain Dev. 2017.10; 40 (2): 107-115. ( PubMed , DOI )

Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi: Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency. Brain Dev. 2017.10; 40 (2): 150-154. ( PubMed , DOI )

Yasumura Junko, Yashiro Masato, Okamoto Nami, Shabana Kosuke, Umebayashi Hiroaki, Iwata Naomi, Kubota Tomohiro, Mizuta Mao, Nishimura Kenichi, Okura Yuka, Shimizu Masaki, Tomiita Minako, Takei Syuji, Mori Masaaki: Clinical Features and Characteristics of Juvenile Idiopathic Arthritis-Associated Uveitis in Japan: the First Report from the Pediatric Rheumatology Association of Japan (PRAJ) ARTHRITIS & RHEUMATOLOGY. 2017.10; 69

Tsubasa Okano, Takuro Nishikawa, Eri Watanabe, Takashi Watanabe, Takehiro Takashima, Tzu-Wen Yeh, Motoi Yamashita, Mari Tanaka-Kubota, Satoshi Miyamoto, Noriko Mitsuiki, Masatoshi Takagi, Yoshifumi Kawano, Yoshiki Mochizuki, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio: Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy. Clin. Immunol. 2017.10; 183 112-120. ( PubMed , DOI )

Takagi M: Erratum to: DNA damage response and hematological malignancy. International journal of hematology. 2017.09; 106 (3): 450-453. ( PubMed , DOI )

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Dekker J, Belmont AS, Guttman M, Leshyk VO, Lis JT, Lomvardas S, Mirny LA, O'Shea CC, Park PJ, Ren B,Politz JCR, Shendure J, Zhong S, 4D Nucleome Network(…Sasaki T, Isoda T, Misteli T…): The 4D nucleome project Nature. 2017.09; 549 (7671): 219-226.

Keisuke Nagasaki, Takuo Kubota, Hironori Kobayashi, Hirotake Sawada, Chikahiko Numakura, Shohei Harada, Kei Takasawa, Kanshi Minamitani, Tomohiro Ishii, Satoshi Okada, Hotaka Kamasaki, Shigetaka Sugihara, Masanori Adachi, Toshihiro Tajima: Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan. Clin Pediatr Endocrinol. 2017.09; 26 (4): 207-213. ( PubMed , DOI )

Charline Miot, Kohsuke Imai, Chihaya Imai, Anthony J Mancini, Zeynep Yesim Kucuk, Tokomki Kawai, Ryuta Nishikomori, Etsuro Ito, Isabelle Pellier, Sophie Dupuis Girod, Jeremie Rosain, Shinya Sasaki, Shanmuganathan Chandrakasan, Jana Pachlopnik Schmid, Tsubasa Okano, Estelle Colin, Alberto Olaya-Vargas, Marco Yamazaki-Nakashimada, Waseem Qasim, Sara Espinosa Padilla, Andrea Jones, Alfons Krol, Nyree Cole, Stephen Jolles, Jack Bleesing, Thomas Vraetz, Andrew R Gennery, Mario Abinun, Tayfun Güngör, Beatriz Costa-Carvalho, Antonio Condino-Neto, Paul Veys, Steven M Holland, Gulbu Uzel, Despina Moshous, Benedicte Neven, Stéphane Blanche, Stephan Ehl, Rainer Döffinger, Smita Y Patel, Anne Puel, Jacinta Bustamante, Erwin W Gelfand, Jean-Laurent Casanova, Jordan S Orange, Capucine Picard: Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations Blood. 2017.09; 130 (12): 1456-1467. ( PubMed , DOI )

Shimizu M, Nakagishi Y, Inoue N, Mizuta M, Yachie A: Leucine-rich α2-glycoprotein as the acute-phase reactant to detect systemic juvenile idiopathic arthritis disease activity during anti-interleukin-6 blockade therapy: A case series. Modern rheumatology. 2017.09; 27 (5): 833-837. ( PubMed , DOI )

Shimizu Masaki, Nakagishi Yasuo, Inoue Natsumi, Mizuta Mao, Yachie Akihiro: 抗インターロイキン-6遮断療法中の全身性若年性特発性関節炎疾患活動性を検出するための急性相反応物質としてのleucine-rich α2-glycoprotein　症例シリーズ(Leucine-rich α2-glycoprotein as the acute-phase reactant to detect systemic juvenile idiopathic arthritis disease activity during anti-interleukin-6 blockade therapy: A case series) Modern Rheumatology. 2017.09; 27 (5): 833-837. ( 医中誌 )

Kaneda H, Shimizu M, Yachie A: Successful Treatment of Enterohemorrhagic Escherichia coli-Induced Acute Encephalopathy and Hemolytic-Uremic Syndrome With Polymyxin-B Direct Hemoperfusion. Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy. 2017.08; 21 (4): 419-421. ( PubMed , DOI )

Kaneda Hisashi, Shimizu Masaki, Yachie Akihiro: ポリミキシンB直接血液灌流による、腸管出血性大腸菌に誘発された急性脳症と溶血性尿毒症症候群に対する治療の成功(Successful Treatment of Enterohemorrhagic Escherichia coli-Induced Acute Encephalopathy and Hemolytic-Uremic Syndrome With Polymyxin-B Direct Hemoperfusion) Therapeutic Apheresis and Dialysis. 2017.08; 21 (4): 419-421. ( 医中誌 )

Masafumi Seki, Shunsuke Kimura, Tomoya Isobe, Kenichi Yoshida, Hiroo Ueno, Yaeko Nakajima-Takagi, Changshan Wang, Lin Lin, Ayana Kon, Hiromichi Suzuki, Yusuke Shiozawa, Keisuke Kataoka, Yoichi Fujii, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Teppei Shimamura, Kyoko Masuda, Hiroshi Kawamoto, Kentaro Ohki, Motohiro Kato, Yuki Arakawa, Katsuyoshi Koh, Ryoji Hanada, Hiroshi Moritake, Masaharu Akiyama, Ryoji Kobayashi, Takao Deguchi, Yoshiko Hashii, Toshihiko Imamura, Atsushi Sato, Nobutaka Kiyokawa, Akira Oka, Yasuhide Hayashi, Masatoshi Takagi, Atsushi Manabe, Akira Ohara, Keizo Horibe, Masashi Sanada, Atsushi Iwama, Hiroyuki Mano, Satoru Miyano, Seishi Ogawa, Junko Takita: Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia. Nat Genet. 2017.08; 49 (8): 1274-1281. ( PubMed , DOI )

Shimizu M, Shirahashi T, Mizuta M, Ikawa Y, Yachie A: Extracranial Carotid Aneurysm in Takayasu Arteritis. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases. 2017.08; 23 (5): 289. ( PubMed , DOI )

Maki Gau, Kei Takasawa: Initial patient choice of a growth hormone device improves child and adolescent adherence to and therapeutic effects of growth hormone replacement therapy. J. Pediatr. Endocrinol. Metab.. 2017.08; 30 (9): 989-993. ( PubMed , DOI )

Masayuki Nagasawa, Teppei Ohkawa, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio: A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation. J. Clin. Immunol.. 2017.07; 37 (5): 413-414. ( PubMed , DOI )

Kobayashi Ayumi, Takasawa Reiko, Takasawa Kei, Nishioka Masato, Kaneko Masahide, Ono Hiroshi, Maekawa Takanobu, Morio Tomohiro, Shimohira Masayuki: 多剤過敏症とサイトメガロウイルスおよびBKウイルスの再活性化により重症過好酸球増多症と全身症状を呈した幼児症例(An infant case of severe hypereosinophilia and systemic symptoms with multiple drug hypersensitivity and reactivation of cytomegalovirus and BK virus) Allergology International. 2017.07; 66 (3): 479-481. ( 医中誌 )

Ishikawa Sayaka, Shimizu Masaki, Inoue Natsumi, Mizuta Mao, Nakagishi Yasuo, Yachie Akihiro: リウマチ因子陽性の多関節型若年性特発性関節炎における疾患活動性マーカーとしてのインターロイキン-33(Interleukin-33 as a marker of disease activity in rheumatoid factor positive polyarticular juvenile idiopathic arthritis) Modern Rheumatology. 2017.07; 27 (4): 609-613. ( 医中誌 )

Shimizu M, Takakura M, Inoue N, Ohta K, Yachie A: Thrombocytosis-related glomerulopathy in a patient with hyposplenia. Pediatrics international : official journal of the Japan Pediatric Society. 2017.07; 59 (7): 842-843. ( PubMed , DOI )

Akihiro Hoshino, Satoshi Okada, Kenichi Yoshida, Naonori Nishida, Yusuke Okuno, Hiroo Ueno, Motoi Yamashita, Tsubasa Okano, Miyuki Tsumura, Shiho Nishimura, Sonoko Sakata, Masao Kobayashi, Haruna Nakamura, Junji Kamizono, Kanako Mitsui-Sekinaka, Takuya Ichimura, Shouichi Ohga, Yozo Nakazawa, Masatoshi Takagi, Kohsuke Imai, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Shigeaki Nonoyama, Tomohiro Morio, Hirokazu Kanegane: Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations. J Allergy Clin Immunol. 2017.07; 140 (1): 223-231. ( PubMed , DOI )

H Takahashi, J Inoue, K Sakaguchi, M Takagi, S Mizutani, J Inazawa: Autophagy is required for cell survival under L-asparaginase-induced metabolic stress in acute lymphoblastic leukemia cells. Oncogene. 2017.07; 36 (30): 4267-4276. ( PubMed , DOI )

Taizo Wada, Satoshi Miyamoto, Hiroyuki Okamoto, Yusuke Matsuda, Tomoko Toma, Kohsuke Imai, Masatoshi Takagi, Tomohiro Morio, Akihiro Yachie: Prolonged neutropenia due to antihuman neutrophil antigen 2 (CD177) antibody after bone marrow transplantation Pediatr Blood Cancer. 2017.07; 64 (7): ( PubMed , DOI )

Nishioka Masato, Takahashi Akiko, Komiya Eriko, Yamaguchi Yohei, Maeda Yoshichika, Doi Shozaburo: 肺動脈からの冠動脈左前下行枝奇形と左冠静脈洞からの右冠動脈奇形が合併した1症例(A Case of Anomalous Left Anterior Descending Coronary Artery from the Pulmonary Artery Combined with Anomalous Right Coronary Artery from the Left Coronary Sinus) 日本小児循環器学会雑誌. 2017.07; 33 (4): 341-342. ( 医中誌 )

Ayumi Kobayashi, Reiko Takasawa, Kei Takasawa, Masato Nishioka, Masahide Kaneko, Hiroshi Ono, Takanobu Maekawa, Tomohiro Morio, Masayuki Shimohira: An infant case of severe hypereosinophilia and systemic symptoms with multiple drug hypersensitivity and reactivation of cytomegalovirus and BK virus. Allergol Int. 2017.07; 66 (3): 479-481. ( PubMed , DOI )

Takehiro Takashima, Miko Okamura, Tzu-Wen Yeh, Tsubasa Okano, Motoi Yamashita, Keisuke Tanaka, Akihiro Hoshino, Noriko Mitsuiki, Masatoshi Takagi, Eiichi Ishii, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio: Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases J. Clin. Immunol. 2017.07; 37 (5): 486-495. ( PubMed , DOI )

Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Kanako Mitsui-Sekinaka, Kenichi Honma, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Hideki Muramatsu, Seiji Kojima, Asuka Hira, Minoru Takata, Osamu Ohara, Seishi Ogawa, Tomohiro Morio, Shigeaki Nonoyama: Common Variable Immunodeficiency Caused by FANC Mutations. J. Clin. Immunol. 2017.07; 37 (5): 434-444. ( PubMed , DOI )

Shimizu Masaki, Takakura Maiko, Inoue Natsumi, Ohta Kazuhide, Yachie Akihiro: 脾機能低下症患者における血小板増加症関連の腎糸球体症(Thrombocytosis-related glomerulopathy in a patient with hyposplenia) Pediatrics International. 2017.07; 59 (7): 842-843. ( 医中誌 )

Ishikawa S, Shimizu M, Inoue N, Mizuta M, Nakagishi Y, Yachie A: Interleukin-33 as a marker of disease activity in rheumatoid factor positive polyarticular juvenile idiopathic arthritis. Modern rheumatology. 2017.07; 27 (4): 609-613. ( PubMed , DOI )

Inoue Natsumi, Shimizu Masaki, Mizuta Mao, Ikawa Yasuhiro, Yachie Akihiro: 難治性の皮膚型結節性多発動脈炎　etanerceptによる治療の奏効(Refractory cutaneous polyarteritis nodosa: Successful treatment with etanercept) Pediatrics International. 2017.06; 59 (6): 751-752. ( 医中誌 )

Inoue N, Shimizu M, Mizuta M, Ikawa Y, Yachie A: Refractory cutaneous polyarteritis nodosa: Successful treatment with etanercept. Pediatrics international : official journal of the Japan Pediatric Society. 2017.06; 59 (6): 751-752. ( PubMed , DOI )

Masatoshi Takagi, Shohei Ogata, Hiroo Ueno, Kenichi Yoshida, Tzuwen Yeh, Akihiro Hoshino, Jinhua Piao, Motoy Yamashita, Mai Nanya, Tsubasa Okano, Michiko Kajiwara, Hirokazu Kanegane, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Yuki Bando, Motohiro Kato, Yasuhide Hayashi, Satoru Miyano, Kohsuke Imai, Seishi Ogawa, Seiji Kojima, Tomohiro Morio: Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. J. Allergy Clin. Immunol.. 2017.06; 139 (6): 1914-1922. ( PubMed , DOI )

Masatoshi Takagi, Yasuyoshi Ishiwata, Yuki Aoki, Satoshi Miyamoto, Akihiro Hoshino, Kazuaki Matsumoto, Akira Nishimura, Mari Tanaka, Masakatsu Yanagimachi, Noriko Mitsuiki, Kohsuke Imai, Hirokazu Kanegane, Michiko Kajiwara, Kanako Takikawa, Tsukasa Mae, Osamu Tomita, Junya Fujimura, Masato Yasuhara, Daisuke Tomizawa, Shuki Mizutani, Tomohiro Morio: HLA haploidentical hematopoietic cell transplantation using clofarabine and busulfan for refractory pediatric hematological malignancy. Int J Hematol. 2017.05; 105 (5): 686-691. ( PubMed , DOI )

Takagi Masatoshi, Ishiwata Yasuyoshi, Aoki Yuki, Miyamoto Satoshi, Hoshino Akihiro, Matsumoto Kazuaki, Nishimura Akira, Tanaka Mari, Yanagimachi Masakatsu, Mitsuiki Noriko, Imai Kohsuke, Kanegane Hirokazu, Kajiwara Michiko, Takikawa Kanako, Mae Tsukasa, Tomita Osamu, Fujimura Junya, Yasuhara Masato, Tomizawa Daisuke, Mizutani Shuki, Morio Tomohiro: 小児の難治性血液悪性疾患に対するクロファラビンとブスルファンを用いたHLAハプロタイプ一致造血幹細胞移植(HLA haploidentical hematopoietic cell transplantation using clofarabine and busulfan for refractory pediatric hematological malignancy) International Journal of Hematology. 2017.05; 105 (5): 686-691. ( 医中誌 )

Fumihiro Goto, Toru Uchiyama, Yumiko Nakazawa, Kohsuke Imai, Toshinao Kawai, Masafumi Onodera: Persistent Impairment of T-Cell Regeneration in a Patient with Activated PI3K δ Syndrome J. Clin. Immunol. 2017.05; 37 (4): 347-350. ( PubMed , DOI )

Manfred Hoenig, Chantal Lagresle-Peyrou, Ulrich Pannicke, Luigi D Notarangelo, Fulvio Porta, Andrew R Gennery, Mary Slatter, Morton J Cowan, Polina Stepensky, Hamoud Al-Mousa, Daifulah Al-Zahrani, Sung-Yun Pai, Waleed Al Herz, Hubert B Gaspar, Paul Veys, Koichi Oshima, Kohsuke Imai, Hiromasa Yabe, Lenora M Noroski, Nico M Wulffraat, Karl-Walter Sykora, Pere Soler-Palacin, Hideki Muramatsu, Mariam Al Hilali, Despina Moshous, Klaus-Michael Debatin, Catharina Schuetz, Eva-Maria Jacobsen, Ansgar S Schulz, Klaus Schwarz, Alain Fischer, Wilhelm Friedrich, Marina Cavazzana: Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome Blood. 2017.05; 129 (21): 2928-2938. ( PubMed , DOI )

Hiroshi Moritake, Megumi Obara, Yusuke Saito, Ayako Kashimada, Masatoshi Takagi, Megumi Funakoshi-Tago, Tomofusa Fukuyama, Mikio Yoshioka, Akira Inoue, Hiroyuki Komatsu, Hideki Nishitoh, Hiroaki Kataoka, Hiroyuki Nunoi: A mouse model reveals that Mfsd2a is critical for unfolded protein response upon exposure to tunicamycin. Hum Cell. 2017.04; 30 (2): 88-97. ( PubMed , DOI )

Makiko Egawa, Kohsuke Imai, Masaaki Mori, Naoyuki Miyasaka, Tetsuo Kubota: Placental Transfer of Canakinumab in a Patient with Muckle-Wells Syndrome. J. Clin. Immunol.. 2017.04; ( PubMed , DOI )

James Slack, Michael H Albert, Dmitry Balashov, Bernd H Belohradsky, Alice Bertaina, Jack Bleesing, Claire Booth, Jochen Buechner, Rebecca H Buckley, Marie Ouachée-Chardin, Elena Deripapa, Katarzyna Drabko, Mary Eapen, Tobias Feuchtinger, Andrea Finocchi, H Bobby Gaspar, Sujal Ghosh, Alfred Gillio, Luis I Gonzalez-Granado, Eyal Grunebaum, Tayfun Güngör, Carsten Heilmann, Merja Helminen, Kohei Higuchi, Kohsuke Imai, Krzysztof Kalwak, Nubuo Kanazawa, Gülsün Karasu, Zeynep Y Kucuk, Alexandra Laberko, Andrzej Lange, Nizar Mahlaoui, Roland Meisel, D Moshous, Hideki Muramatsu, Suhag Parikh, Srdjan Pasic, Irene Schmid, Catharina Schuetz, Ansgar Schulz, Kirk R Schultz, Peter J Shaw, Mary A Slatter, Karl-Walter Sykora, Shinobu Tamura, Mervi Taskinen, Angela Wawer, Beata Wolska-Kus Nierz, Morton J Cowan, Alain Fischer, Andrew R Gennery: Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders J. Allergy Clin. Immunol. 2017.04; ( PubMed , DOI )

Masatoshi Takagi: DNA damage response and hematological malignancy. Int J Hematol. 2017.04; 106 (3): 450-453. ( PubMed , DOI )

Shimizu M, Ikawa Y, Mizuta M, Takakura M, Inoue N, Nishimura R, Yachie A: FDG-PET in macrophage activation syndrome associated with systemic juvenile idiopathic arthritis. Pediatrics international : official journal of the Japan Pediatric Society. 2017.04; 59 (4): 509-511. ( PubMed , DOI )

Amit Rawat, Pandiarajan Vignesh, Avinash Sharma, Jitendra K Shandilya, Madhubala Sharma, Deepti Suri, Anju Gupta, Vikas Gautam, Pallab Ray, Shivaprakash M Rudramurthy, Arunaloke Chakrabarti, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Yu L Lau, Surjit Singh: Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India J. Clin. Immunol. 2017.04; 37 (3): 319-328. ( PubMed , DOI )

Shimizu Masaki, Ikawa Yasuhiro, Mizuta Mao, Takakura Maiko, Inoue Natsumi, Nishimura Ryosei, Yachie Akihiro: 若年性全身性特発性関節炎に関連したマクロファージ活性化症候群におけるFDG-PET(FDG-PET in macrophage activation syndrome associated with systemic juvenile idiopathic arthritis) Pediatrics International. 2017.04; 59 (4): 509-511. ( 医中誌 )

M Kato, S Ishimaru, M Seki, K Yoshida, Y Shiraishi, K Chiba, N Kakiuchi, Y Sato, H Ueno, H Tanaka, T Inukai, D Tomizawa, D Hasegawa, T Osumi, Y Arakawa, T Aoki, M Okuya, K Kaizu, K Kato, Y Taneyama, H Goto, T Taki, M Takagi, M Sanada, K Koh, J Takita, S Miyano, S Ogawa, A Ohara, M Tsuchida, A Manabe: Long-term outcome of 6-month maintenance chemotherapy for acute lymphoblastic leukemia in children. Leukemia. 2017.03; 31 (3): 580-584. ( PubMed , DOI )

Senda Y, Ohta K, Yokoyama T, Shimizu M, Furuichi K, Wada T, Yachie A: Microangiopathic antiphospholipid antibody syndrome due to anti-phosphatidylserine/prothrombin complex IgM antibody. Pediatrics international : official journal of the Japan Pediatric Society. 2017.03; 59 (3): 378-380. ( PubMed , DOI )

Senda Yumi, Ohta Kazuhide, Yokoyama Tadafumi, Shimizu Masaki, Furuichi Kengo, Wada Takashi, Yachie Akihiro: 抗ホスファチジルセリン/プロトロンビン複合体IgM抗体に起因した微小血管障害性の抗リン脂質抗体症候群(Microangiopathic antiphospholipid antibody syndrome due to anti-phosphatidylserine/prothrombin complex IgM antibody) Pediatrics International. 2017.03; 59 (3): 378-380. ( 医中誌 )

Miki Murakoshi, Kei Takasawa, Masato Nishioka, Masahiro Asakawa, Kenichi Kashimada, Takanobu Yoshimoto, Toshiyuki Yamamoto, Kazuhiro Takekoshi, Yoshihiro Ogawa, Masayuki Shimohira: Abdominal paraganglioma in a young woman with 1p36 deletion syndrome. Am. J. Med. Genet. A. 2017.02; 173 (2): 495-500. ( PubMed , DOI )

Jinhua Piao, Shiori Takai, Takahiro Kamiya, Takeshi Inukai, Kanji Sugita, Kazuma Ohyashiki, Domenico Delia, Mitsuko Masutani, Shuki Mizutani, Masatoshi Takagi: Poly (ADP-ribose) polymerase inhibitors selectively induce cytotoxicity in TCF3-HLF-positive leukemic cells. Cancer Lett. 2017.02; 386 131-140. ( PubMed , DOI )

Tanya I Coulter, Anita Chandra, Chris M Bacon, Judith Babar, James Curtis, Nick Screaton, John R Goodlad, George Farmer, Cathal Laurence Steele, Timothy Ronan Leahy, Rainer Doffinger, Helen Baxendale, Jolanta Bernatoniene, J David M Edgar, Hilary J Longhurst, Stephan Ehl, Carsten Speckmann, Bodo Grimbacher, Anna Sediva, Tomas Milota, Saul N Faust, Anthony P Williams, Grant Hayman, Zeynep Yesim Kucuk, Rosie Hague, Paul French, Richard Brooker, Peter Forsyth, Richard Herriot, Caterina Cancrini, Paolo Palma, Paola Ariganello, Niall Conlon, Conleth Feighery, Patrick J Gavin, Alison Jones, Kohsuke Imai, Mohammad A A Ibrahim, Gašper Markelj, Mario Abinun, Frédéric Rieux-Laucat, Sylvain Latour, Isabelle Pellier, Alain Fischer, Fabien Touzot, Jean-Laurent Casanova, Anne Durandy, Siobhan O Burns, Sinisa Savic, D S Kumararatne, Despina Moshous, Sven Kracker, Bart Vanhaesebroeck, Klaus Okkenhaug, Capucine Picard, Sergey Nejentsev, Alison M Condliffe, Andrew James Cant: Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study J. Allergy Clin. Immunol. 2017.02; 139 (2): 597-606.e4. ( PubMed , DOI )

Shimizu M, Inoue N, Kuroda M, Mizuta M, Sugimoto N, Kaneda H, Ohta K, Yachie A: Angiopoietin-1 and -2 as markers for disease severity in hemolytic uremic syndrome induced by enterohemorrhagic Escherichia coli. Clinical and experimental nephrology. 2017.02; 21 (1): 76-82. ( PubMed , DOI )

Shimizu Masaki, Inoue Natsumi, Kuroda Mondo, Mizuta Mao, Sugimoto Naotoshi, Kaneda Hisashi, Ohta Kazuhide, Yachie Akihiro: 腸管出血性大腸菌によって誘発された溶血性尿毒症症候群における疾患重症度マーカーとしてのアンジオポエチン-1および2(Angiopoietin-1 and -2 as markers for disease severity in hemolytic uremic syndrome induced by enterohemorrhagic Escherichia coli) Clinical and Experimental Nephrology. 2017.02; 21 (1): 76-82. ( 医中誌 )

Maki Igarashi, Kei Takasawa, Akiko Hakoda, Junko Kanno, Shuji Takada, Mami Miyado, Takashi Baba, Ken-Ichirou Morohashi, Toshihiro Tajima, Kenichiro Hata, Kazuhiko Nakabayashi, Yoichi Matsubara, Ryohei Sekido, Tsutomu Ogata, Kenichi Kashimada, Maki Fukami: Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. Hum. Mutat.. 2017.01; 38 (1): 39-42. ( PubMed , DOI )

Shintaro Ono, Tsubasa Okano, Akihiro Hoshino, Masakatsu Yanagimachi, Kazuko Hamamoto, Yozo Nakazawa, Toshihiko Imamura, Masaei Onuma, Hidetaka Niizuma, Yoji Sasahara, Hiroshi Tsujimoto, Taizo Wada, Reiko Kunisaki, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane: Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan. J. Clin. Immunol. 2017.01; 37 (1): 85-91. ( PubMed , DOI )

Tasuku Suzuki, Yoji Sasahara, Atsuo Kikuchi, Humihiko Kakuta, Toshihiko Kashiwabara, Takashi Ishige, Yoshiko Nakayama, Masanori Tanaka, Akihiro Hoshino, Hirokazu Kanegane, Daiki Abukawa, Shigeo Kure: Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunodeficiency Genes in Pediatric IBD: a Japanese Multicenter Study. J. Clin. Immunol. 2017.01; 37 (1): 67-79. ( PubMed , DOI )

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Akifumi Endo, Daisuke Tomizawa, Yuki Aoki, Tomohiro Morio, Shuki Mizutani, Masatoshi Takagi: EWSR1/ELF5 induces acute myeloid leukemia by inhibiting p53/p21 pathway. Cancer Sci.. 2016.12; 107 (12): 1745-1754. ( PubMed , DOI )

Yuki Tsujita, Kanako Mitsui-Sekinaka, Kohsuke Imai, Tzu-Wen Yeh, Noriko Mitsuiki, Takaki Asano, Hidenori Ohnishi, Zenichiro Kato, Yujin Sekinaka, Kiyotaka Zaha, Tamaki Kato, Tsubasa Okano, Takehiro Takashima, Kaoru Kobayashi, Mitsuaki Kimura, Tomoaki Kunitsu, Yoshihiro Maruo, Hirokazu Kanegane, Masatoshi Takagi, Kenichi Yoshida, Yusuke Okuno, Hideki Muramatsu, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seiji Kojima, Seishi Ogawa, Osamu Ohara, Satoshi Okada, Masao Kobayashi, Tomohiro Morio, Shigeaki Nonoyama: Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency. J. Allergy Clin. Immunol.. 2016.12; 138 (6): 1672-1680. ( PubMed , DOI )

Ueno K, Shimizu M, Uchiyama A, Hatasaki K: Fulminant respiratory failure due to progressive metastatic pulmonary calcification with no predisposing factors after successful renal transplantation: A case report. Pediatric transplantation. 2016.12; 20 (8): 1152-1156. ( PubMed , DOI )

Mizuta M, Shimizu M, Inoue N, Kasai K, Nakagishi Y, Takahara T, Hamahira K, Yachie A: Serum ferritin levels as a useful diagnostic marker for the distinction of systemic juvenile idiopathic arthritis and Kawasaki disease. Modern rheumatology. 2016.11; 26 (6): 929-932. ( PubMed , DOI )

Minoru Asada, Shuki Mizutani, Masatoshi Takagi, Hidenori Suzuki: Antipsychotics promote neural differentiation of human iPS cell-derived neural stem cells. Biochem Biophys Res Commun. 2016.11; 480 (4): 615-621. ( PubMed , DOI )

Shigeru Takishima, Keisuke Nakajima, Risa Nomura, Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Yohei Matsubara, Makoto Ono, Kentaro Miyai, Kei Takasawa, Tomohiro Morio, Yukihiro Hasegawa, Kenichi Kashimada: Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients. Endocr. J.. 2016.11; 63 (11): 983-990. ( PubMed , DOI )

Noriko Shimasaki, Elaine Coustan-Smith, Takahiro Kamiya, Dario Campana: Expanded and armed natural killer cells for cancer treatment. Cytotherapy. 2016.11; 18 (11): 1422-1434. ( PubMed , DOI )

Daiei Kojima, Hideki Muramatsu, Yusuke Okuno, Shinsuke Kataoka, Norihiro Murakami, Yoshihiro Tanahashi, Kyogo Suzuki, Tamaki Kato, Yuko Sekiya, Nozomu Kawashima, Atsushi Narita, Nobuhiro Nishio, Asahito Hama, Kohsuke Imai, Shigeaki Nonoyama, Yoshiyuki Takahashi, Seiji Kojima: Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome. J. Allergy Clin. Immunol. 2016.11; 138 (5): 1471-1473.e4. ( PubMed , DOI )

Inoue N, Sato A, Ikawa Y, Shimizu M, Okajima M, Taniguchi T, Yachie A: Successful treatment of exertional heat stroke using continuous plasma diafiltration. Journal of clinical apheresis. 2016.10; 31 (5): 490-2. ( PubMed , DOI )

Kaneda H, Shimizu M, Ohta K, Ushijima K, Gotoh Y, Satomura K, Nagai T, Fujieda M, Morooka M, Yamada T, Yamada M, Wada N, Takaai M, Hashimoto Y, Uemura O: Population pharmacokinetics of mizoribine in pediatric patients with kidney disease. Clinical and experimental nephrology. 2016.10; 20 (5): 757-763. ( PubMed , DOI )

Hirokazu Kanegane: Primary immunodeficiency disease and hematology. Rinsho Ketsueki. 2016.10; 57 (10): 2275-2284. ( PubMed , DOI )

Takeshi Sato, Tsubasa Okano, Mari Tanaka-Kubota, Shunsuke Kimura, Satoshi Miyamoto, Shintaro Ono, Motoi Yamashita, Noriko Mitsuiki, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Takasuke Ebato, Shohei Ogata, Hirotsugu Oda, Osamu Ohara, Hirokazu Kanegane, Tomohiro Morio: Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency. Pediatr Int. 2016.10; 58 (10): 1076-1080. ( PubMed , DOI )

Surjit Singh, Amit Rawat, Deepti Suri, Anju Gupta, Ravinder Garg, Biman Saikia, Ranjana Walker Minz, Shobha Sehgal, Koon-Wing Chan, Yu Lung Lau, Chikako Kamae, Kenichi Honma, Noriko Nakagawa, Kohsuke Imai, Shigeaki Nonoyama, Koichi Oshima, Noriko Mitsuiki, Osamu Ohara: X-linked agammaglobulinemia: Twenty years of single-center experience from North West India. Ann. Allergy Asthma Immunol.. 2016.10; 117 (4): 405-411. ( PubMed , DOI )

Leu H, Sugimoto N, Shimizu M, Toma T, Wada T, Ohta K, Yachie A: Tumor necrosis factor-α modifies the effects of Shiga toxin on glial cells. International immunopharmacology. 2016.09; 38 139-43. ( PubMed , DOI )

Akaike S, Kamoi K, Tezsuka M, Tomizawa D, Yoshimura R, Takagi M, Ohno-Matsui K: Ocular manifestation in myeloid/NK cell precursor acute leukemia: a case report. Diagnosed by flow cytometry and PCR from aqueous humor. Medicine (Baltimore). 2016.09; 95 (38): e4967. ( PubMed , DOI )

Hiroki Yoshihara, Takahiro Kamiya, Yosuke Hosoya, Daisuke Hasegawa, Chitose Ogawa, Hiroshi Asanuma, Ryuichi Mizuno, Ryota Hosoya, Atsushi Manabe: Ewing sarcoma/primitive neuroectodermal tumor of the kidney treated with chemotherapy including ifosfamide. Pediatr Int. 2016.08; 58 (8): 766-769. ( PubMed , DOI )

Masayuki Nagasawa, Noriko Mitsuiki, Akifumi Endo, Yuki Aoki, Toshiaki Ono, Takeshi Isoda, Masatoshi Takagi, Michiko Kajiwara, Norio Shimizu, Tomohiro Morio: Sequential virus monitoring of pediatric patients with hematopoietic stem cell transplantation by multiplex PCR method. Transplantation Open. 2016.08; 1 (1): 17-24. ( DOI )

Inoue N, Shimizu M, Tsunoda S, Kawano M, Matsumura M, Yachie A: Cytokine profile in adult-onset Still's disease: Comparison with systemic juvenile idiopathic arthritis. Clinical immunology (Orlando, Fla.). 2016.08; 169 8-13. ( PubMed , DOI )

Nakagishi Y, Shimizu M, Kasai K, Miyoshi M, Yachie A: Successful therapy of macrophage activation syndrome with dexamethasone palmitate. Modern rheumatology. 2016.07; 26 (4): 617-20. ( PubMed , DOI )

Takahiro Kamiya, Yu-Hsiang Chang, Dario Campana: Expanded and Activated Natural Killer Cells for Immunotherapy of Hepatocellular Carcinoma. Cancer Immunol Res. 2016.07; 4 (7): 574-581. ( PubMed , DOI )

Inoue N, Mizuta M, Shimizu M: Clinical Usefulness of 18F-fluorodeoxyglucose Positron Emission Tomography for Enthesitis-related Arthritis Diagnosis. The Journal of rheumatology. 2016.07; 43 (7): 1434-5. ( PubMed , DOI )

Ueno K, Shimizu M, Kubo T, Igarashi N, Hatasaki K: An infant with nephrolithiasis and renal failure: Questions. Pediatric nephrology (Berlin, Germany). 2016.07; 31 (7): 1081-2. ( PubMed , DOI )

Ueno K, Shimizu M, Kubo T, Igarashi N, Hatasaki K: An infant with nephrolithiasis and renal failure: Answers. Pediatric nephrology (Berlin, Germany). 2016.07; 31 (7): 1083-4. ( PubMed , DOI )

Elodie Elkaim, Benedicte Neven, Julie Bruneau, Kanako Mitsui-Sekinaka, Aurelie Stanislas, Lucie Heurtier, Carrie L Lucas, Helen Matthews, Marie-Céline Deau, Svetlana Sharapova, James Curtis, Janine Reichenbach, Catherine Glastre, David A Parry, Gururaj Arumugakani, Elizabeth McDermott, Sara Sebnem Kilic, Motoi Yamashita, Despina Moshous, Hicham Lamrini, Burkhard Otremba, Andrew Gennery, Tanya Coulter, Isabella Quinti, Jean-Louis Stephan, Vassilios Lougaris, Nicholas Brodszki, Vincent Barlogis, Takaki Asano, Lionel Galicier, David Boutboul, Shigeaki Nonoyama, Andrew Cant, Kohsuke Imai, Capucine Picard, Sergey Nejentsev, Thierry Jo Molina, Michael Lenardo, Sinisa Savic, Marina Cavazzana, Alain Fischer, Anne Durandy, Sven Kracker: Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. J. Allergy Clin. Immunol.. 2016.07; 138 (1): 210-218.e9. ( PubMed , DOI )

Kei Takasawa, Yuichi Miyakawa, Atsushi Masamune, Kenichi Kashimada, Masayuki Shimohira: Fibrocalculous pancreatic diabetes in a Japanese girl with severe motor and intellectual disabilities. Acta Diabetol. 2016.06; 53 (3): 507-510. ( PubMed , DOI )

Julie Toubiana, Satoshi Okada, Julia Hiller, Matias Oleastro, Macarena Lagos Gomez, Juan Carlos Aldave Becerra, Marie Ouachée-Chardin, Fanny Fouyssac, Katta Mohan Girisha, Amos Etzioni, Joris Van Montfrans, Yildiz Camcioglu, Leigh Ann Kerns, Bernd Belohradsky, Stéphane Blanche, Aziz Bousfiha, Carlos Rodriguez-Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen D Renner, Sergio Rosenzweig, Bodo Grimbacher, Frank L van de Veerdonk, Claudia Traidl-Hoffmann, Capucine Picard, Laszlo Marodi, Tomohiro Morio, Masao Kobayashi, Desa Lilic, Joshua D Milner, Steven Holland, Jean-Laurent Casanova, Anne Puel, International STAT1 Gain-of-Function Study Group: Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood. 2016.06; 127 (25): 3154-3164. ( PubMed , DOI )

Nagasawa M, Ono T, Aoki Y, Isoda T, Takagi M, Imai K, Kajiwara M, Morio T.: A pediatric case of very late onset non-infectious pulmonary complication (LONIPC) after allogeneic hematopoietic stem cell transplantation. J Clin Exp Transplant. 2016.06; 1 (1): 104.

Shimizu M, Inoue N, Mizuta M, Ikawa Y, Yachie A: Leopard skin appearance of cutaneous polyarteritis nodosa on 18Ffluorodeoxyglucose positron emission tomography. Rheumatology (Oxford, England). 2016.06; 55 (6): 1090. ( PubMed , DOI )

Chika Kobayashi, Masayuki Nagasawa, Noriko　Mitsuiki, Akifumi Endo, Yuki Aoki, Toshiaki　Ono, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Tomohiro Morio.: Recombinant Human SolubleThrombomodulin is Effective for Severe Childhood EBV-HLH. J Hematol Thromb. 2016.05; 2 (1): 1-4.

Sawai T, Shimizu M, Sakai T, Yachie A: Tubulointerstitial Nephritis and Uveitis Syndrome Associated With Human Papillomavirus Vaccine. Journal of pediatric ophthalmology and strabismus. 2016.05; 53 (3): 190-1. ( PubMed , DOI )

Tasaki Y, Shimizu M, Inoue N, Mizuta M, Nakagishi Y, Wada T, Yachie A: Disruption of vascular endothelial homeostasis in systemic juvenile idiopathic arthritis-associated macrophage activation syndrome: The dynamic roles of angiopoietin-1 and -2. Cytokine. 2016.04; 80 1-6. ( PubMed , DOI )

Hiroshi Moritake, Masatoshi Takagi, Mariko Kinoshita, Osamu Ohara, Shojiro Yamamoto, Sayaka Moriguchi, Hiroyuki Nunoi: Autoimmunity Including Intestinal Behçet Disease Bearing the KRAS Mutation in Lymphocytes: A Case Report. Pediatrics. 2016.03; 137 (3): e20152891. ( PubMed , DOI )

Amit Rawat, Kohsuke Imai, Deepti Suri, Anju Gupta, Swapnil Bhisikar, Biman Saikia, Ranjana W Minz, Shobha Sehgal, Surjit Singh: Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome. Indian J Pediatr. 2016.03; 83 (3): 270-271. ( PubMed , DOI )

Katsutsugu Umeda, Souichi Adachi, Yasuo Horikoshi, Kohsuke Imai, Kiminori Terui, Mikiya Endo, Tetsuo Mitsui, Keisuke Kato, Katsuyoshi Koh, Ryosuke Kajiwara, Rieko Ito, Yoshitoshi Otsuka, Masami Inoue, Eiichi Ishii, Hiromasa Yabe: Allogeneic hematopoietic stem cell transplantation for Chediak-Higashi syndrome. Pediatr Transplant. 2016.03; 20 (2): 271-275. ( PubMed , DOI )

Kazuhiro Ikegame, Kohsuke Imai, Motoi Yamashita, Akihiro Hoshino, Hirokazu Kanegane, Tomohiro Morio, Katsuji Kaida, Takayuki Inoue, Toshihiro Soma, Hiroya Tamaki, Masaya Okada, Hiroyasu Ogawa: Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity. J Hematol Oncol. 2016.02; 9 (1): 9. ( PubMed , DOI )

Yokoyama K, Shimizu M, Yoshida A: Femoral Agminated Petechiae Associated with Acute Parvovirus B19 Infection. The Pediatric infectious disease journal. 2016.02; 35 (2): 228-9. ( PubMed , DOI )

Kei Takasawa, Sayaka Takeda, Masato Nishioka, Hiroshi Sakuma, Tomohiro Morio, Masayuki Shimohira: Steroid-responsive Status Epilepticus Caused by Human Parvovirus B19 Encephalitis. Pediatr. Infect. Dis. J.. 2016.02; 35 (2): 227-228. ( PubMed , DOI )

Saito Y, Nishida N, Nomura K, Adachi Y, Kanegane H.: A case of myeloid sarcoma followed by acute myeloid leukemia (AMIL M0). J Hematol Oncol.. 2016.01; 53 (3): 300-304.

Seiichi Hayakawa, Satoshi Okada, Miyuki Tsumura, Sonoko Sakata, Yoshitaka Ueno, Kohsuke Imai, Tomohiro Morio, Osamu Ohara, Kazuaki Chayama, Masao Kobayashi: A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer. J. Clin. Immunol.. 2016.01; 36 (1): 28-32. ( PubMed , DOI )

Yuki Aoki, Reiji Miyawaki, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Yasuyoshi Ishiwata, Masato Yasuhara, Tomohiro Morio, Shuki Mizutani, Daisuke Tomizawa: Haploidentical Bone Marrow Transplantation With Clofarabine and Busulfan Conditioning for a Child With Multiple Recurrent Acute Lymphoblastic Leukemia. J. Pediatr. Hematol. Oncol.. 2016.01; 38 (1): 39-41. ( PubMed , DOI )

Mami Miyado, Masafumi Inui, Maki Igarashi, Yuko Katoh-Fukui, Kei Takasawa, Akiko Hakoda, Junko Kanno, Kenichi Kashimada, Kenji Miyado, Moe Tamano, Tsutomu Ogata, Shuji Takada, Maki Fukami: The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice. Biol Sex Differ. 2016; 7 56. ( PubMed , DOI )

T Wada, Toma T, M Yasui, M Inoue, K Kawa, K Imai, T Morio, A Yachie: Different Clinical Phenotypes in 2 Siblings With X-Linked Severe Combined Immunodeficiency. J Investig Allergol Clin Immunol. 2016; 26 (1): 63-65. ( PubMed )

Mai Nanya, Masaki Sato, Kousuke Tanimoto, Minoru Tozuka, Shuki Mizutani, Masatoshi Takagi: Dysregulation of the DNA Damage Response and KMT2A Rearrangement in Fetal Liver Hematopoietic Cells. PLoS ONE. 2015.12; 10 (12): e0144540. ( PubMed , DOI )

Yuko Atsumi, Yusuke Minakawa, Masaya Ono, Sachiko Dobashi, Keitaro Shinohe, Akira Shinohara, Shunichi Takeda, Masatoshi Takagi, Nobuhiko Takamatsu, Hitoshi Nakagama, Hirobumi Teraoka, Ken-Ichi Yoshioka: ATM and SIRT6/SNF2H Mediate Transient H2AX Stabilization When DSBs Form by Blocking HUWE1 to Allow Efficient γH2AX Foci Formation. Cell Rep. 2015.12; 13 (12): 2728-2740. ( PubMed , DOI )

Motoko Yasutomi, Kikuko Yoshioka, Akiko Mibayashi, Akihiko Tanizawa, Kohsuke Imai, Osamu Ohara, Yusei Ohshima: Successful Myeloablative Bone Marrow Transplantation in an Infant With Wiskott-Aldrich Syndrome and Bacillus Calmette-Guerin Infection. Pediatr Blood Cancer. 2015.11; 62 (11): 2052-2053. ( PubMed , DOI )

Tajiri H, Nishi J, Ushijima K, Shimizu T, Ishige T, Shimizu M, Tanaka H, Brooks S: A role for fosfomycin treatment in children for prevention of haemolytic-uraemic syndrome accompanying Shiga toxin-producing Escherichia coli infection. International journal of antimicrobial agents. 2015.11; 46 (5): 586-9. ( PubMed , DOI )

Kei Takasawa, Shigeru Takishima, Chikako Morioka, Masato Nishioka, Hirofumi Ohashi, Yoko Aoki, Masayuki Shimohira, Kenichi Kashimada, Tomohiro Morio: Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy. Am. J. Med. Genet. A. 2015.10; 167A (10): 2425-2429. ( PubMed , DOI )

Yusuke Okuno, Akihiro Hoshino, Hideki Muramatsu, Nozomu Kawashima, Xinan Wang, Kenichi Yoshida, Taizo Wada, Masaharu Gunji, Tomoko Toma, Tamaki Kato, Yuichi Shiraishi, Atsuko Iwata, Toshinori Hori, Toshiyuki Kitoh, Kenichi Chiba, Hiroko Tanaka, Masashi Sanada, Yoshiyuki Takahashi, Shigeaki Nonoyama, Masafumi Ito, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Hirokazu Kanegane: Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism. J. Clin. Immunol.. 2015.10; 35 (7): 610-614. ( PubMed , DOI )

Xi Yang, Naonori Nishida, Xiaodong Zhao, Hirokazu Kanegane: Advances in Understanding the Pathogenesis of Epstein-Barr Virus-Associated Lymphoproliferative Disorders. Iran J Allergy Asthma Immunol. 2015.10; 14 (5): 462-471. ( PubMed )

Benner C, Isoda T, Murre C: New roles for DNA cytosine modification, eRNA, anchors, and superanchors in developing B cell progenitors. Proceedings of the National Academy of Sciences of the United States of America. 2015.10; 112 (41): 12776-81. ( PubMed , DOI )

Shinobu Tamura, Kohei Higuchi, Masaharu Tamaki, Chizuko Inoue, Ryoko Awazawa, Noriko Mitsuki, Yuka Nakazawa, Hiroyuki Mishima, Kenzo Takahashi, Osamu Kondo, Kohsuke Imai, Tomohiro Morio, Osamu Ohara, Tomoo Ogi, Fukumi Furukawa, Masami Inoue, Koh-Ichiro Yoshiura, Nobuo Kanazawa: Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency. Clin. Immunol.. 2015.10; 160 (2): 255-260. ( PubMed , DOI )

Shimizu M, Nakagishi Y, Inoue N, Mizuta M, Ko G, Saikawa Y, Kubota T, Yamasaki Y, Takei S, Yachie A: Interleukin-18 for predicting the development of macrophage activation syndrome in systemic juvenile idiopathic arthritis. Clinical immunology (Orlando, Fla.). 2015.10; 160 (2): 277-81. ( PubMed , DOI )

Takakura M, Shimizu M, Inoue N, Tasaki Y, Ishikawa S, Ohta K, Yachie A: Iodine-induced non-autoimmune hypothyroidism in a patient with steroid-resistant nephrotic syndrome. Pediatrics international : official journal of the Japan Pediatric Society. 2015.10; 57 (5): 1055-6. ( PubMed , DOI )

Sugimoto N, Leu H, Inoue N, Shimizu M, Toma T, Kuroda M, Saito T, Wada T, Yachie A: The critical role of lipopolysaccharide in the upregulation of aquaporin 4 in glial cells treated with Shiga toxin. Journal of biomedical science. 2015.09; 22 78. ( PubMed , DOI )

Eitaro Hiejima, Tomoki Kawai, Hiroshi Nakase, Tatsuaki Tsuruyama, Takeshi Morimoto, Takahiro Yasumi, Takashi Taga, Hirokazu Kanegane, Masayuki Hori, Katsuyuki Ohmori, Takeshi Higuchi, Minoru Matsuura, Takuya Yoshino, Hiroki Ikeuchi, Kenji Kawada, Yoshiharu Sakai, Mina T Kitazume, Tadakazu Hisamatsu, Tsutomu Chiba, Ryuta Nishikomori, Toshio Heike: Reduced Numbers and Proapoptotic Features of Mucosal-associated Invariant T Cells as a Characteristic Finding in Patients with Inflammatory Bowel Disease. Inflamm. Bowel Dis.. 2015.07; 21 (7): 1529-1540. ( PubMed , DOI )

Mitsutaka Shiota, Xi Yang, Mei Kubokawa, Tatsuya Morishima, Kuniaki Tanaka, Masamitsu Mikami, Kenichi Yoshida, Masako Kikuchi, Kazushi Izawa, Ryuta Nishikomori, Yusuke Okuno, Xian Wang, Hirotoshi Sakaguchi, Hideki Muramatsu, Seiji Kojima, Satoru Miyano, Seishi Ogawa, Masatoshi Takagi, Daisuke Hata, Hirokazu Kanegane: Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases. J. Clin. Immunol.. 2015.07; 35 (5): 454-458. ( PubMed , DOI )

Mondo Kuroda, Masaki Shimizu, Natsumi Inoue, Iku Ikeno, Hiroyasu Nakagawa, Ayano Yokoi, Yo Niida, Michio Konishi, Hisashi Kaneda, Noboru Igarashi, Junya Yamahana, Hiromichi Taneichi, Hirokazu Kanegane, Mika Ito, Shigeru Saito, Kengo Furuichi, Takashi Wada, Masaru Nakagawa, Hitoshi Yokoyama, Akihiro Yachie: Serum tau protein as a marker of disease activity in enterohemorrhagic Escherichia coli O111-induced hemolytic uremic syndrome. Neurochem. Int.. 2015.06; 85-86 24-30. ( PubMed , DOI )

Shimizu M, Sakai S, Ohta K, Miyamoto M, Yachie A: Uterus didelphys with obstructed hemivagina and contralateral multicystic dysplastic kidney. CEN case reports. 2015.05; 4 (1): 61-64. ( PubMed , DOI )

Ueno K, Shimizu M, Yokoyama T, Ishikawa S, Tasaki Y, Inoue N, Sugimoto N, Ohta K, Yachie A: Urinary neopterin: an immune activation marker in mesangial proliferative glomerulonephritis. Clinical and experimental nephrology. 2015.04; 19 (2): 264-70. ( PubMed , DOI )

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Xi Yang, Akihiro Hoshino, Takashi Taga, Tomoaki Kunitsu, Yuhachi Ikeda, Takahiro Yasumi, Kenichi Yoshida, Taizo Wada, Kunio Miyake, Takeo Kubota, Yusuke Okuno, Hideki Muramatsu, Yuichi Adachi, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Hirokazu Kanegane: A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele. J. Clin. Immunol.. 2015.04; 35 (3): 244-248. ( PubMed , DOI )

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Masatoshi Takagi, Hatsume Uno, Rina Nishi, Masataka Sugimoto, Setsuko Hasegawa, Jinhua Piao, Norimasa Ihara, Sayaka Kanai, Saori Kakei, Yoshifumi Tamura, Takayoshi Suganami, Yasutomi Kamei, Toshiaki Shimizu, Akio Yasuda, Yoshihiro Ogawa, Shuki Mizutani: ATM Regulates Adipocyte Differentiation and Contributes to Glucose Homeostasis. Cell Rep. 2015.02; 10 (6): 957-967. ( PubMed , DOI )

Akihiro Hoshino, Keiko Nomura, Takeru Hamashima, Tomoya Isobe, Masafumi Seki, Mitsuteru Hiwatari, Kenichi Yoshida, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Junko Takita, Hirokazu Kanegane: Aggressive transformation of anaplastic large cell lymphoma with increased number of ALK-translocated chromosomes. Int. J. Hematol.. 2015.02; 101 (2): 198-202. ( PubMed , DOI )

Teppei Ohkawa, Satoshi Miyamoto, Manabu Sugie, Daisuke Tomizawa, Kohsuke Imai, Masayuki Nagasawa, Tomohiro Morio, Shuki Mizutani, Masatoshi Takagi: Transient abnormal myelopoiesis in non-Down syndrome neonate. Pediatr Int. 2015.02; 57 (1): 14-17. ( PubMed , DOI )

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Koichi Oshima, Kohsuke Imai, Michael H Albert, Tanja C Bittner, Gabriele Strauss, Alexandra H Filipovich, Tomohiro Morio, Neena Kapoor, Jignesh Dalal, Kirk R Schultz, James T Casper, Luigi D Notarangelo, Hans D Ochs, Shigeaki Nonoyama: Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene. J. Clin. Immunol.. 2015.01; 35 (1): 15-21. ( PubMed , DOI )

Yokoyama T, Sugimoto N, Kato E, Ohta K, Ishikawa S, Ueno K, Shimizu M, Yachie A: Rotavirus gastroenteritis-associated urinary ammonium acid urate crystals. Pediatrics international : official journal of the Japan Pediatric Society. 2015; 57 (1): 158-60. ( PubMed , DOI )

Shimizu M, Hamaguchi Y, Ishikawa S, Ueno K, Yachie A: Successful treatment with tocilizumab of a psoriasiform skin lesion induced by etanercept in a patient with juvenile idiopathic arthritis. Modern rheumatology. 2015; 25 (6): 972-3. ( PubMed , DOI )

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Biman Saikia, Deepti Suri, Shubham Goel, Amit Rawat, Ranjana W Minz, Anju Gupta, Sudha Sharma, Osamu Ohara, Kohsuke Imai, Shigeaki Nonoyama, Shobha Sehgal, Surjit Singh: Hyper-IgE syndrome with a novel STAT3 mutation-a single center study from India. Asian Pac. J. Allergy Immunol.. 2014.12; 32 (4): 321-327. ( PubMed , DOI )

Naoya Mori, Teruhiko Makino, Megumi Mizawa, Ko Kagoyama, Hirokazu Kanegane, Hirotoshi Sakaguchi, Takayoshi Miyazono, Seiji Kojima, Tadamichi Shimizu: Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein. Eur J Dermatol. 2014.12; ( PubMed , DOI )

Shimizu M, Nakagishi Y, Yoshida A, Yachie A: Serum interleukin 18 as a diagnostic remission criterion in systemic juvenile idiopathic arthritis. The Journal of rheumatology. 2014.11; 41 (11): 2328-30. ( PubMed , DOI )

Shimizu M, Ueno K, Ishikawa S, Tokuhisa Y, Inoue N, Yachie A: Treatment of refractory polyarticular juvenile idiopathic arthritis with tacrolimus. Rheumatology (Oxford, England). 2014.11; 53 (11): 2120-2. ( PubMed , DOI )

R Kawakita, Y Hosokawa, R Fujimaru, N Tamagawa, T Urakami, K Takasawa, K Moriya, H Mizuno, Y Maruo, M Takuwa, H Nagasaka, Y Nishi, Y Yamamoto, K Aizu, T Yorifuji: Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients. Diabet. Med.. 2014.11; 31 (11): 1357-1362. ( PubMed , DOI )

Ohnishi Michihiro, Sasaki Naoyuki, Kishimoto Takuya, Watanabe Hidetoshi, Takagi Masatoshi, Mizutani Shuki, Kishii Noriyuki, Yasuda Akio: A new microcolumn-type microchip for examining the expression of chimeric fusion genes using a nucleic acid sandwich hybridization technique. J Chromatogr B Analyt Technol Biomed Life Sci. 2014.11; 970 60-67. ( PubMed , DOI )

Yaeko Motoyoshi, Akifumi Endo, Masatoshi Takagi, Tomohiro Morio, Eisaku Ito, Michio Nagata, Shuki Mizutani: Graft versus host disease-dependent renal dysfunction after hematopoietic stem cell transplantation. CEN Case Report. 2014.11; 3 (2): 202-205.

Ataru Igarashi, Hirokazu Kanegane, Midori Kobayashi, Toshio Miyawaki, Kiichiro Tsutani: Cost-minimization Analysis of IgPro20, a Subcutaneous Immunoglobulin, in Japanese Patients With Primary Immunodeficiency. Clin Ther. 2014.11; 36 (11): 1616-1624. ( PubMed , DOI )

Claire Aguilar, Christelle Lenoir, Nathalie Lambert, Bernadette Bègue, Nicole Brousse, Danielle Canioni, Dominique Berrebi, Maryline Roy, Stéphane Gérart, Helen Chapel, Tobias Schwerd, Laurent Siproudhis, Michela Schäppi, Ali Al-Ahmari, Masaaki Mori, Akiko Yamaide, Lionel Galicier, Bénédicte Neven, John Routes, Holm H Uhlig, Sibylle Koletzko, Smita Patel, Hirokazu Kanegane, Capucine Picard, Alain Fischer, Nadine Cerf Bensussan, Frank Ruemmele, Jean-Pierre Hugot, Sylvain Latour: Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers. J. Allergy Clin. Immunol.. 2014.11; 134 (5): 1131-1141.e9. ( PubMed , DOI )

Sugimoto N, Toma T, Shimizu M, Kuroda M, Wada T, Yachie A: Shiga toxin-2 enhances heat-shock-induced apoptotic cell death in cultured and primary glial cells. Cell biology and toxicology. 2014.10; 30 (5): 289-99. ( PubMed , DOI )

Shimizu M, Nakayama Y, Taniguchi T: Successful treatment of enterohemorrhagic Escherichia coli O111-induced acute encephalopathy and hemolytic-uremic syndrome with plasma diafiltration. Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy. 2014.10; 18 (5): 516-8. ( PubMed , DOI )

Shimizu M, Niida Y, Koizumi S, Yachie A: An infant with recurrent convulsive seizures of 3 weeks duration: questions. Pediatric nephrology (Berlin, Germany). 2014.10; 29 (10): 1951, 1953-5. ( PubMed , DOI )

Akihiro Hoshino, Keiko Nomura, Kyo Noguchi, Hirokazu Kanegane: Relapsed leukemia without peripheral blood abnormalities and clinical symptoms detected on MRI. Pediatr Int. 2014.10; 56 (5): 798. ( PubMed , DOI )

Aoki Yuki, Sato Ayako, Mizutani Shuki, Takagi Masatoshi: Hematopoietic myeloid cell differentiation diminishes nucleotide excision repair. Int J Hematol. 2014.09; 100 (3): 260-265. ( PubMed , DOI )

Kousaku Mimura, Takahiro Kamiya, Kensuke Shiraishi, Ley-Fang Kua, Asim Shabbir, Jimmy So, Wei-Peng Yong, Yoshiyuki Suzuki, Yuya Yoshimoto, Takashi Nakano, Hideki Fujii, Dario Campana, Koji Kono: Therapeutic potential of highly cytotoxic natural killer cells for gastric cancer. Int. J. Cancer. 2014.09; 135 (6): 1390-1398. ( PubMed , DOI )

K Nakatani, K Imai, M Shigeno, H Sato, M Tezuka, T Okawa, N Mitsuiki, T Isoda, D Tomizawa, M Takagi, M Nagasawa, M Kajiwara, M Yamamoto, A Arai, O Miura, C Kamae, N Nakagawa, K Honma, S Nonoyama, S Mizutani, T Morio: Cord blood transplantation is associated with rapid B-cell neogenesis compared with BM transplantation. Bone Marrow Transplant.. 2014.09; 49 (9): 1155-1161. ( PubMed , DOI )

Shimizu M, Sakai S, Tatekawa Y, Ishikawa S, Miyamoto M, Yachie A: An infant with PELVIS (perineal hemangioma, external genital malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag) syndrome misdiagnosed as diaper rash. The Journal of pediatrics. 2014.09; 165 (3): 634. ( PubMed , DOI )

M Mizawa, T Makino, O Norisugi, H Hara, K Shimizu, K Nomura, H Kanegane, T Nojima, T Shimizu: Primary cutaneous Ewing sarcoma following metastasis to the bone and lymph nodes. Br. J. Dermatol.. 2014.09; 171 (3): 660-662. ( PubMed , DOI )

Shimizu M, Ueno K, Ishikawa S, Tokuhisa Y, Inoue N, Yachie A: Successful multitarget therapy using mizoribine and tacrolimus for refractory Takayasu arteritis. Rheumatology (Oxford, England). 2014.08; 53 (8): 1530-2. ( PubMed , DOI )

Horiuchi K, Imai K, Mitsui-Sekinaka K, Yeh TW, Ochs HD, Durandy A, Nonoyama S.: Analysis of somatic hypermutations in the IgM switch region in human B cells. J. Allergy Clin. Immunol.. 2014.08; 134 (2): 411-419. ( PubMed , DOI )

Masaru Imamura, David Shook, Takahiro Kamiya, Noriko Shimasaki, Sally M H Chai, Elaine Coustan-Smith, Chihaya Imai, Dario Campana: Autonomous growth and increased cytotoxicity of natural killer cells expressing membrane-bound interleukin-15. Blood. 2014.08; 124 (7): 1081-1088. ( PubMed , DOI )

Akifumi Endo, Ken Watanabe, Tamae Ohye, Kyoko Suzuki, Tomoyo Matsubara, Norio Shimizu, Hiroki Kurahashi, Tetsushi Yoshikawa, Harutaka Katano, Naoki Inoue, Kohsuke Imai, Masatoshi Takagi, Tomohiro Morio, Shuki Mizutani: Molecular and Virological Evidence of Viral Activation From Chromosomally Integrated Human Herpesvirus 6A in a Patient With X-Linked Severe Combined Immunodeficiency. Clin. Infect. Dis.. 2014.08; 59 (4): 545-548. ( PubMed , DOI )

Akihiro Hoshino, Kohsuke Imai, Yusei Ohshima, Motoko Yasutomi, Masashi Kasai, Masaru Terai, Keiko Ishigaki, Tomohiro Morio, Toshio Miyawaki, Hirokazu Kanegane: Pneumothorax in patients with severe combined immunodeficiency. Pediatr Int. 2014.08; 56 (4): 510-514. ( PubMed , DOI )

Kracker S, Curtis J, Ibrahim MAA, Sediva A, Salisbury J, Campr V, Debré M, Edgar JD, Imai K, Picard C, Casanova JL, Fischer A, Nejentsev S, Durandy A: Occurrence of B-cell lymphomas in patients with Activated Phosphoinositide 3-Kinase δ syndrome (APDS) J Allergy Clin Immunol. 2014.07; 134 233-236. ( PubMed )

Kazuhiro Kogawa, Hiroki Sato, Takeshi Asano, Shouichi Ohga, Kazuko Kudo, Akira Morimoto, Shigeru Ohta, Hiroshi Wakiguchi, Hirokazu Kanegane, Megumi Oda, Eiichi Ishii: Prognostic factors of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children: report of the Japan Histiocytosis Study Group. Pediatr Blood Cancer. 2014.07; 61 (7): 1257-1262. ( PubMed , DOI )

Menno C van Zelm, Sophinus J W Bartol, Gertjan J Driessen, Françoise Mascart, Ismail Reisli, Jose L Franco, Beata Wolska-Kusnierz, Hirokazu Kanegane, Louis Boon, Jacques J M van Dongen, Mirjam van der Burg: Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation. J. Allergy Clin. Immunol.. 2014.07; 134 (1): 135-144. ( PubMed , DOI )

Kei Takasawa, Makoto Ono, Atsushi Hijikata, Yohei Matsubara, Noriyuki Katsumata, Masatoshi Takagi, Tomohiro Morio, Osamu Ohara, Kenichi Kashimada, Shuki Mizutani: Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids. Clin. Endocrinol. (Oxf). 2014.06; 80 (6): 782-789. ( PubMed , DOI )

Monica Yabal, Nicole Müller, Heiko Adler, Nathalie Knies, Christina J Groß, Rune Busk Damgaard, Hirokazu Kanegane, Marc Ringelhan, Thomas Kaufmann, Mathias Heikenwälder, Andreas Strasser, Olaf Groß, Jürgen Ruland, Christian Peschel, Mads Gyrd-Hansen, Philipp J Jost: XIAP restricts TNF- and RIP3-dependent cell death and inflammasome activation. Cell Rep. 2014.06; 7 (6): 1796-1808. ( PubMed , DOI )

Shimizu M, Ishikawa S, Yachi Y, Muraoka M, Tasaki Y, Iwasaki H, Kuroda M, Ohta K, Yachie A: Tolvaptan therapy for massive edema in a patient with nephrotic syndrome. Pediatric nephrology (Berlin, Germany). 2014.05; 29 (5): 915-7. ( PubMed , DOI )

Kei Takasawa, Kenichi Kashimada, Emanuele Pelosi, Masatoshi Takagi, Tomohiro Morio, Hiroshi Asahara, David Schlessinger, Shuki Mizutani, Peter Koopman: FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice. FASEB J.. 2014.05; 28 (5): 2020-2028. ( PubMed , DOI )

Setsuko Hasegawa, Kohsuke Imai, Kenichi Yoshida, Yusuke Okuno, Hideki Muramatsu, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seiji Kojima, Seishi Ogawa, Tomohiro Morio, Shuki Mizutani, Masatoshi Takagi: Whole-exome sequence analysis of ataxia telangiectasia-like phenotype. J. Neurol. Sci.. 2014.05; 340 (1-2): 86-90. ( PubMed , DOI )

Shimizu M, Ueno K, Ishikawa S, Kasahara Y, Yachie A: Role of activated macrophage and inflammatory cytokines in the development of calcinosis in juvenile dermatomyositis. Rheumatology (Oxford, England). 2014.04; 53 (4): 766-7. ( PubMed , DOI )

Yoko Mizoguchi, Miyuki Tsumura, Satoshi Okada, Osamu Hirata, Shizuko Minegishi, Kohsuke Imai, Nobuyuki Hyakuna, Hideki Muramatsu, Seiji Kojima, Yusuke Ozaki, Takehide Imai, Sachiyo Takeda, Tetsuya Okazaki, Tsuyoshi Ito, Shin'ichiro Yasunaga, Yoshihiro Takihara, Vanessa L Bryant, Xiao-Fei Kong, Sophie Cypowyj, Stéphanie Boisson-Dupuis, Anne Puel, Jean-Laurent Casanova, Tomohiro Morio, Masao Kobayashi: Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. J. Leukoc. Biol.. 2014.04; 95 (4): 667-676. ( PubMed , DOI )

Satoru Kobayashi, Tomohiko Taki, Hisao Nagoshi, Yoshiaki Chinen, Yuichi Yokokawa, Hirokazu Kanegane, Yosuke Matsumoto, Junya Kuroda, Shigeo Horiike, Kazuhiro Nishida, Masafumi Taniwaki: Identification of novel fusion genes with 28S ribosomal DNA in hematologic malignancies. Int. J. Oncol.. 2014.04; 44 (4): 1193-1198. ( PubMed , DOI )

Zahn A1, Eranki AK, Patenaude AM, Methot SP, Fifield H, Cortizas EM, Foster P, Imai K, Durandy A, Larijani M, Verdun RE, Di Noia JM.: Activation induced deaminase C-terminal domain links DNA breaks to end protection and repair during class switch recombination. Proc. Natl. Acad. Sci. U.S.A.. 2014.03; 111 (11): E988-E997. ( PubMed , DOI )

Masaki Shimizu, Mondo Kuroda, Natsumi Inoue, Michio Konishi, Noboru Igarashi, Hiromichi Taneichi, Hirokazu Kanegane, Mika Ito, Shigeru Saito, Akihiro Yachie: Extensive serum biomarker analysis in patients with enterohemorrhagic Escherichia coli O111-induced hemolytic-uremic syndrome. Cytokine. 2014.03; 66 (1): 1-6. ( PubMed , DOI )

Satoshi Horino, Yoji Sasahara, Miki Sato, Hidetaka Niizuma, Satoru Kumaki, Daiki Abukawa, Atsushi Sato, Masue Imaizumi, Hirokazu Kanegane, Yoshiro Kamachi, Shinya Sasaki, Kiminori Terui, Etsuro Ito, Ichiro Kobayashi, Tadashi Ariga, Shigeru Tsuchiya, Shigeo Kure: Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome. Pediatr Transplant. 2014.02; 18 (1): E25-E30. ( PubMed , DOI )

Hirokazu Kanegane, Kohsuke Imai, Masafumi Yamada, Hidetoshi Takada, Tadashi Ariga, Martin Bexon, Mikhail Rojavin, Wilson Hu, Midori Kobayashi, John-Philip Lawo, Shigeaki Nonoyama, Toshiro Hara, Toshio Miyawaki: Efficacy and safety of IgPro20, a subcutaneous immunoglobulin, in Japanese patients with primary immunodeficiency diseases. J. Clin. Immunol.. 2014.02; 34 (2): 204-211. ( PubMed , DOI )

Rawat A, Singh S, Suri D, Gupta A, Saikia B, Minz RW, Sehgal S, Vaiphei K, Kamae C, Honma K, Nakagawa N,Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Chan KW, Lau YL: Chronic Granulomatous Disease: Two Decades of Experience From a Tertiary Care Centre in North West India. J Clin Immunol. 2014.01; 34 58-67. ( PubMed )

Ko Kudo, Chihaya Imai, Paolo Lorenzini, Takahiro Kamiya, Koji Kono, Andrew M Davidoff, Wee Joo Chng, Dario Campana: T lymphocytes expressing a CD16 signaling receptor exert antibody-dependent cancer cell killing. Cancer Res.. 2014.01; 74 (1): 93-103. ( PubMed , DOI )

Akihiro Hoshino, Masaki Shimizu, Hiroyoshi Matsukura, Hisano Sakaki-Nakatsubo, Keiko Nomura, Toshio Miyawaki, Hirokazu Kanegane: Allogeneic bone marrow transplantation appears to ameliorate IgA nephropathy in a patient with X-linked thrombocytopenia. J. Clin. Immunol.. 2014.01; 34 (1): 53-57. ( PubMed , DOI )

Taizo Wada, Hirokazu Kanegane, Kazuhide Ohta, Fumiyo Katoh, Toshihiko Imamura, Yozo Nakazawa, Ritsuko Miyashita, Junichi Hara, Kazuko Hamamoto, Xi Yang, Alexandra H Filipovich, Rebecca A Marsh, Akihiro Yachie: Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency. Cytokine. 2014.01; 65 (1): 74-78. ( PubMed , DOI )

Tanaka Eriko, Asanuma Katsuhiko, Kim Eunhee, Sasaki Yu, Oliva Trejo Juan Alejandro, Seki Takuto, Nonaka Kanae, Asao Rin, Nagai-Hosoe Yoshiko, Akiba-Takagi Miyuki, Hidaka Teruo, Takagi Masatoshi, Koyanagi Akemi, Mizutani Shuki, Yagita Hideo, Tomino Yasuhiko: Notch2 activation ameliorates nephrosis. Nat Commun. 2014; 5 3296. ( PubMed , DOI )

U Koura, H Sakaki-Nakatsubo, K Otsubo, K Nomura, K Oshima, O Ohara, T Wada, A Yachie, K Imai, T Morio, T Miyawaki, H Kanegane: Successful treatment of systemic cytomegalovirus infection in severe combined immunodeficiency using allogeneic bone marrow transplantation followed by adoptive immunotherapy. J Investig Allergol Clin Immunol. 2014; 24 (3): 200-202. ( PubMed )

Keiko Yamagami, Tomoko Miyashita, Tomoyuki Nakamura, Michinori Shirano, Tadahiro Nakamura, Kazuaki Kameda, Masayoshi Nishijima, Masahiro Imanishi, Xi Yang, Hirokazu Kanegane: Campylobacter fetus bacteremia with purulent pleurisy in a young adult with primary hypogammaglobulinemia. Intern. Med.. 2014; 53 (11): 1221-1225. ( PubMed )

Akihiro Hoshino, Keiko Nomura, Hirokazu Kanegane: Graft versus tumor effect against neuroblastoma: a case report with long-term survival and a review of the literature Journal of Hematopoietic Cell Transplantation. 2014; 3 (3): 97-101. ( DOI )

Shimizu M, Imai T: Vaginal cyst in a newborn. The Journal of pediatrics. 2013.12; 163 (6): 1790. ( PubMed , DOI )

Masayuki Nagasawa, Teppei Ohkawa, Akifumi Endo, Noriko Mitsuiki, Toshiaki Ono, Yuki Aoki, Takeshi Isoda, Daisuke Tomizawa, Masatoshi Takagi, Michiko Kajiwara, Tomohiro Morio, Shuki Mizutani: Early coagulation disorder after allogeneic stem cell transplantation is a strong prognostic factor for transplantation-related mortality, and intervention with recombinant human thrombomodulin improves the outcome: a single-center experience. Int. J. Hematol.. 2013.11; 98 (5): 533-542. ( PubMed , DOI )

Nagasawa Masayuki, Ohkawa Teppei, Endo Akifumi, Mitsuiki Noriko, Ono Toshiaki, Aoki Yuki, Isoda Takeshi, Tomizawa Daisuke, Takagi Masatoshi, Kajiwara Michiko, Morio Tomohiro, Mizutani Shuki: 同種幹細胞移植後の初期血液凝固異常は移植関連死亡率の強力な予後因子であり、組換えヒトトロンボモジュリンによる介入は予後を改善する　単一施設での経験(Early coagulation disorder after allogeneic stem cell transplantation is a strong prognostic factor for transplantation-related mortality, and intervention with recombinant human thrombomodulin improves the outcome: a single-center experience) International Journal of Hematology. 2013.11; 98 (5): 533-542. ( 医中誌 )

Piao Jinhua, Sakurai Naoto, Iwamoto Shotaro, Nishioka Junji, Nakatani Kaname, Komada Yoshihiro, Mizutani Shuki, Takagi Masatoshi: Functional studies of a novel germline p53 splicing mutation identified in a patient with Li-Fraumeni-like syndrome. Mol Carcinog. 2013.10; 52 (10): 770-776. ( PubMed , DOI )

Shu Hisata, H Sakaguchi, H Kanegane, T Hidaka, M Ichinose, S Kojima, T Nukiwa, M Ebina: A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis. Sarcoidosis Vasc Diffuse Lung Dis. 2013.10; 30 (3): 221-225. ( PubMed )

Takagi M, Piao J, Lin L, Kawaguchi H, Imai C, Ogawa A, Watanabe A, Akiyama K, Kobayashi C, Mori M, Ko K, Sugimoto M, Mizutani S: Autoimmunity and persistent RAS-mutated clones long after the spontaneous regression of JMML. Leukemia. 2013.09; 27 (9): 1926-1928. ( PubMed , DOI )

Shimizu M, Ueno K, Ishikawa S, Yokoyama T, Kasahara Y, Yachie A: Cutaneous calcinosis in juvenile dermatomyositis. The Journal of pediatrics. 2013.09; 163 (3): 921. ( PubMed , DOI )

Shizuka Machida, Daisuke Tomizawa, Hiroyuki Tamaichi, Teppei Okawa, Akifumi Endo, Kohsuke Imai, Masayuki Nagasawa, Tomohiro Morio, Shuki Mizutani, Masatoshi Takagi: Successful treatment of diffuse large B-cell lymphoma in a patient with ataxia telangiectasia using rituximab. J. Pediatr. Hematol. Oncol.. 2013.08; 35 (6): 482-485. ( PubMed , DOI )

Takagi Masatoshi, Sato Masaki, Piao Jinhua, Miyamoto Satoshi, Isoda Takeshi, Kitagawa Masanobu, Honda Hiroaki, Mizutani Shuki: ATM-dependent DNA damage-response pathway as a determinant in chronic myelogenous leukemia. DNA Repair (Amst). 2013.07; 12 (7): 500-507. ( PubMed , DOI )

Junya Unno, Masatoshi Takagi, Jinhua Piao, Masataka Sugimoto, Fumiko Honda, Daisuke Maeda, Mitsuko Masutani, Tohru Kiyono, Fumiaki Watanabe, Tomohiro Morio, Hirobumi Teraoka, Shuki Mizutani: Artemis-dependent DNA double-strand break formation at stalled replication forks. Cancer Sci.. 2013.06; 104 (6): 703-710. ( PubMed , DOI )

Ishikawa S, Shimizu M, Ueno K, Sugimoto N, Yachie A: Soluble ST2 as a marker of disease activity in systemic juvenile idiopathic arthritis. Cytokine. 2013.05; 62 (2): 272-7. ( PubMed , DOI )

Ayami Yoshimi, Yoshiro Kamachi, Kosuke Imai, Nobuhiro Watanabe, Hisaya Nakadate, Takashi Kanazawa, Shuichi Ozono, Ryoji Kobayashi, Misa Yoshida, Chie Kobayashi, Asahito Hama, Hideki Muramatsu, Yoji Sasahara, Marcus Jakob, Tomohiro Morio, Stephan Ehl, Atsushi Manabe, Charlotte Niemeyer, Seiji Kojima: Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia. Pediatr Blood Cancer. 2013.05; 60 (5): 836-841. ( PubMed , DOI )

Takeshi Isoda, Noriko Mitsuiki, Teppei Ohkawa, Setsuko Kaneko, Akifumi Endo, Toshiaki Ono, Yuki Aoki, Daisuke Tomizawa, Michiko Kajiwara, Satoshi Araki, Masayuki Nagasawa, Tomohiro Morio, Masatoshi Takagi, Shuki Mizutani: Irreversible leukoencephalopathy after reduced-intensity stem cell transplantation in a dyskeratosis congenita patient with TINF2 mutation. J. Pediatr. Hematol. Oncol.. 2013.05; 35 (4): e178-e182. ( PubMed , DOI )

Shimizu M, Yokoyama T, Ishikawa S, Ueno K, Ohta K, Yachie A: A distinct lymphocyte distribution in relapse after rituximab for steroid-dependent nephrotic syndrome. CEN case reports. 2013.05; 2 (1): 1-5. ( PubMed , DOI )

Chikako Kamae, Noriko Nakagawa, Hiroki Sato, Kenichi Honma, Noriko Mitsuiki, Osamu Ohara, Hirokazu Kanegane, Srdjan Pasic, Qiang Pan-Hammarström, Menno C van Zelm, Tomohiro Morio, Kohsuke Imai, Shigeaki Nonoyama: Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. J. Allergy Clin. Immunol.. 2013.05; 131 (5): 1437-40.e5. ( PubMed , DOI )

Shimizu M, Tokuhisa Y, Ishikawa S, Ueno K, Yokoyama T, Yachie A: Multiple osteonecrosis in a patient with juvenile systemic lupus erythematosus. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases. 2013.04; 19 (3): 160. ( PubMed , DOI )

Shimizu M, Ishikawa S, Ueno K, Yachie A: Moth-eaten appearance of tubulointerstitial nephritis and uveitis syndrome on (99m)technetium dimercaptosuccinic acid scintigraphy. The Journal of pediatrics. 2013.03; 162 (3): 647. ( PubMed , DOI )

Masaki Shimizu, Hirokazu Kanegane, Taizo Wada, Yaeko Motoyoshi, Tomohiro Morio, Fabio Candotti, Akihiro Yachie: Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. J. Allergy Clin. Immunol.. 2013.02; 131 (2): 587-90.e1. ( PubMed , DOI )

Yukako Kawasaki, Hidemi Toyoda, Shoichiro Otsuki, Tadashi Iwasa, Shotaro Iwamoto, Eiichi Azuma, Naomi Itoh-Habe, Hideo Wada, Yoshihiro Fujimura, Tomohiro Morio, Kohsuke Imai, Noriko Mitsuiki, Osamu Ohara, Yoshihiro Komada: A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura. Eur. J. Haematol.. 2013.02; 90 (2): 164-168. ( PubMed , DOI )

Tamaichi Hiroyuki, Sato Masaki, Porter Andrew C G, Shimizu Toshiaki, Mizutani Shuki, Takagi Masatoshi: Ataxia telangiectasia mutated-dependent regulation of topoisomerase II alpha expression and sensitivity to topoisomerase II inhibitor. Cancer Sci. 2013.02; 104 (2): 178-184. ( PubMed , DOI )

Kanegane H, Taneichi H, Nomura K, Wada T, Yachie A, Imai K, Ariga T, Santisteban I, Hershfield MS, Miyawaki T.: Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency. Pediatr Transplant. 2013.02; 17 (1): E29-E32. ( PubMed , DOI )

Shimizu M, Nakagishi Y, Yachie A: Distinct subsets of patients with systemic juvenile idiopathic arthritis based on their cytokine profiles. Cytokine. 2013.02; 61 (2): 345-8. ( PubMed , DOI )

Shimizu M, Yokoyama T, Tokuhisa Y, Ishikawa S, Sakakibara Y, Ueno K, Yachie A: Distinct cytokine profile in juvenile systemic lupus erythematosus-associated macrophage activation syndrome. Clinical immunology (Orlando, Fla.). 2013.02; 146 (2): 73-6. ( PubMed , DOI )

Mizutani Shuki, Takagi Masatoshi: XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility. Int J Hematol. 2013.01; 97 (1): 37-42. ( PubMed , DOI )

Yokoyama T, Shimizu M, Ishikawa S, Ueno K, Hamaguchi Y, Takehara K, Yachie A: Accumulation of mature B cells in the inflamed muscle tissue of a patient with anti-155/140 antibody-positive juvenile dermatomyositis. Modern rheumatology. 2013.01; 23 (1): 167-71. ( PubMed , DOI )

Yohei Matsubara, Makoto Ono, Kentaro Miyai, Fumihiko Takizawa, Kei Takasawa, Toshikazu Onishi, Kenichi Kashimada, Shuki Mizutani: Longitudinal analysis of growth and body composition of Japanese 21-OHD patients in childhood. Endocr. J.. 2013; 60 (2): 149-154. ( PubMed )

Shimizu M, Kuroda M, Sakashita N, Konishi M, Kaneda H, Igarashi N, Yamahana J, Taneichi H, Kanegane H, Ito M, Saito S, Ohta K, Taniguchi T, Furuichi K, Wada T, Nakagawa M, Yokoyama H, Yachie A: Cytokine profiles of patients with enterohemorrhagic Escherichia coli O111-induced hemolytic-uremic syndrome. Cytokine. 2012.12; 60 (3): 694-700. ( PubMed , DOI )

Shimizu M, Hamaguchi Y, Matsushita T, Sakakibara Y, Yachie A: Sequentially appearing erythema nodosum, erythema multiforme and Henoch-Schönlein purpura in a patient with Mycoplasma pneumoniae infection: a case report. Journal of medical case reports. 2012.11; 6 398. ( PubMed , DOI )

Shimizu M, Ueno K, Yachie A: Relapse of systemic juvenile idiopathic arthritis after influenza vaccination in a patient receiving tocilizumab. Clinical and vaccine immunology : CVI. 2012.10; 19 (10): 1700-2. ( PubMed , DOI )

Takafumi Nozaki, Hidetoshi Takada, Masataka Ishimura, Kenji Ihara, Kohsuke Imai, Tomohiro Morio, Masao Kobayashi, Shigeaki Nonoyama, Toshiro Hara: Endocrine complications in primary immunodeficiency diseases in Japan. Clin. Endocrinol. (Oxf). 2012.10; 77 (4): 628-634. ( PubMed , DOI )

Shimizu M, Yokoyama T, Sakashita N, Sato A, Ueno K, Akita C, Ohta K, Kitano E, Hatanaka M, Kitamura H, Saikawa Y, Yachie A: Thomsen-Friedenreich antigen exposure as a cause of Streptococcus pyogenes-associated hemolytic-uremic syndrome. Clinical nephrology. 2012.10; 78 (4): 328-31. ( PubMed , DOI )

Tomoko Mizuno, Hirofumi Komaki, Masayuki Sasaki, Satoko Takanoha, Kenji Kuroda, Kiyokaku Kon, Shigeo Mamiya, Masaru Yoshioka, Kana Yatabe, Takashi Mikata, Tadayuki Ishihara, Takashi Nakajima, Hiroo Watanabe, Masaaki Konagaya, Maki Mitani, Tetsuro Konishi, Yasuko Tokita, Kiyotaka Fukuda, Katsunori Tatara, Kyoko Maruta, Shigehiro Imamura, Rie Shimazaki, Kiyoshi Ishikawa, Toshio Saito, Susumu Shinno: Efficacy and tolerance of gastrostomy feeding in Japanese muscular dystrophy patients. Brain Dev.. 2012.10; 34 (9): 756-762. ( PubMed , DOI )

Shimizu M, Yachie A: Compensated inflammation in systemic juvenile idiopathic arthritis: role of alternatively activated macrophages. Cytokine. 2012.10; 60 (1): 226-32. ( PubMed , DOI )

Isoda T., Takagi M., Morio T., Kawamoto H., Mizutani S.: VISUALIZATION OF CHROMOSOMAL TRANSLOCATION AND EARLY T-CELL DEVELOPMENT FAILURE IN ATM DEFICIENCY JOURNAL OF CLINICAL IMMUNOLOGY. 2012.09; 32 14-15.

Hiroyuki Ishida, Kosuke Imai, Kenichi Honma, Shin-Ichi Tamura, Toshihiko Imamura, Masafumi Ito, Shigeaki Nonoyama: GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia. Eur J Pediatr. 2012.08; 171 (8): 1273-1276. ( PubMed , DOI )

Kawai T, Saito M, Nishikomori R, Yasumi T, Izawa K, Murakami T, Okamoto S, Mori Y, Nakagawa N, Imai K, Nonoyama S, Wada T, Yachie A, Ohmori K, Nakahata T, Heike T.: Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient. J. Clin. Immunol.. 2012.08; 32 (4): 690-697. ( PubMed , DOI )

Kobayashi D, Kogawa K, Imai K, Tanaka T, Sada A, Nonoyama S.: Hyper-eosinophilia in granular acute B-cell lymphoblastic leukemia with myeloid antigen expression. Pediatr Int. 2012.08; 54 (4): 543-546. ( PubMed , DOI )

Takeshi Isoda, Masatoshi Takagi, Jinhua Piao, Shun Nakagama, Masaki Sato, Kyoko Masuda, Tomokatsu Ikawa, Miyuki Azuma, Tomohiro Morio, Hiroshi Kawamoto, Shuki Mizutani: Process for immune defect and chromosomal translocation during early thymocyte development lacking ATM. Blood. 2012.07; 120 (4): 789-799. ( PubMed , DOI )

Isoda T., Takagi M., Piao J., Nakagama S., Sato M., Masuda K., Ikawa T., Morio T., Kawamoto H., Mizutani S.: IMMUNE DEFECT AND VISUALIZATION OF CHROMOSOME 14 BREAKS AND TRANSLOCATIONS INVOLVING TCR A/D LOCI DURING EARLY T-CELL DEVELOPMENT LACKING ATM HAEMATOLOGICA. 2012.07; 97 41.

Oshima K, Nagase T, Imai K, Nonoyama S, Obara M, Mizukami T, Nunoi H, Kanegane H, Kuribayashi F, Amemiya S, Ohara O.: A Dual Reporter Splicing Assay Using HaloTag-containing Proteins. Curr Chem Genomics. 2012.07; 6 27-37. ( PubMed , DOI )

Shimizu M, Sakakibara Y, Kawano M, Yachie A: Transient impairment of NK cell function in an infant born to a mother with adult-onset Still's disease: perinatal effect of maternal IL-18. Clinical immunology (Orlando, Fla.). 2012.06; 143 (3): 273-4. ( PubMed , DOI )

Yang X, Kanegane H, Nishida NImamura T, Hamamoto K, , Miyashita R, Imai K, Nonoyama S, Sanayama K, Yamaide A, Kato F, Nagai K, Ishii E, van Zelm MC, Latour S, Zhao XD, Miyawaki T.: Clinical and genetic characteristics of XIAP deficiency in Japan. J. Clin. Immunol.. 2012.06; 32 (3): 411-420. ( PubMed , DOI )

Nakaoka H, Kanegane H, Taneichi H, Miya K, Yang X, Nomura K, Takezaki S, Yamada M, Ohara O, Kamae C, Imai K, Nonoyama S, Wada T, Yachie A, Hershfield MS, Ariga T, Miyawaki T.: Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. Int. J. Hematol.. 2012.06; 95 (6): 692-696. ( PubMed , DOI )

Shimizu M, Iwasaki H, Mase S, Yachie A: Successful treatment of primary sclerosing cholangitis with a steroid and a probiotic. Case reports in gastroenterology. 2012.05; 6 (2): 249-53. ( PubMed , DOI )

Shimizu M, Nakagishi Y, Kasai K, Yamasaki Y, Miyoshi M, Takei S, Yachie A: Tocilizumab masks the clinical symptoms of systemic juvenile idiopathic arthritis-associated macrophage activation syndrome: the diagnostic significance of interleukin-18 and interleukin-6. Cytokine. 2012.05; 58 (2): 287-94. ( PubMed , DOI )

Honda Fumiko, Kano Hirotsugu, Kanegane Hirokazu, Nonoyama Shigeaki, Kim Eun-Sung, Lee Sang-Kyou, Takagi Masatoshi, Mizutani Shuki, Morio Tomohiro: The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils. Nat Immunol. 2012.04; 13 (4): 369-378. ( PubMed , DOI )

Ohta K, Shimizu M, Yokoyama T, Nishio S, Ueno K, Seno A, Yachie A: Evaluation of T-Cell receptor diversity in pediatric patients with minimal change nephrotic syndrome. Clinical nephrology. 2012.04; 77 (4): 296-304. ( PubMed , DOI )

Madoka Kuramitsu, Aiko Sato-Otsubo, Tomohiro Morio, Masatoshi Takagi, Tsutomu Toki, Kiminori Terui, RuNan Wang, Hitoshi Kanno, Shouichi Ohga, Akira Ohara, Seiji Kojima, Toshiyuki Kitoh, Kumiko Goi, Kazuko Kudo, Tadashi Matsubayashi, Nobuo Mizue, Michio Ozeki, Atsuko Masumi, Haruka Momose, Kazuya Takizawa, Takuo Mizukami, Kazunari Yamaguchi, Seishi Ogawa, Etsuro Ito, Isao Hamaguchi: Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. Blood. 2012.03; 119 (10): 2376-2384. ( PubMed , DOI )

Suri D, Singh S, Rawat A, Gupta A, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Bilhou-Nabera C, Proust A, Ahluwalia J, Dogra S, Saikia B, Minz RW, Sehgal S.: Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India. Asian Pac. J. Allergy Immunol.. 2012.03; 30 (1): 71-78. ( PubMed )

Tokuhisa Y, Shimizu M, Yachie A: Honeycomb appearance of the liver in Wilson's disease. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association. 2012.03; 10 (3): A25. ( PubMed , DOI )

Fumiko Honda, Yumiko Hane, Tomoko Toma, Akihiro Yachie, Eun-Sung Kim, Sang-Kyou Lee, Masatoshi Takagi, Shuki Mizutani, Tomohiro Morio: Transducible form of p47phox and p67phox compensate for defective NADPH oxidase activity in neutrophils of patients with chronic granulomatous disease. Biochem. Biophys. Res. Commun.. 2012.01; 417 (1): 162-168. ( PubMed , DOI )

Kei Takasawa, Makoto Ono, Kentrao Miyai, Yohei Matsubara, Fumihiko Takizawa, Toshikazu Onishi, Kenichi Kashimada, Shuki Mizutani: Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life. Endocr. J.. 2012; 59 (11): 1001-1006. ( PubMed )

D Kobayashi, K Kogawa, K Imai, T Tanaka, S Hiroi, H Satoh, K Tanaka-Taya, S Nonoyama: Quantitation of human herpesvirus-6 (HHV-6) DNA in a cord blood transplant recipient with chromosomal integration of HHV-6. Transpl Infect Dis. 2011.12; 13 (6): 650-653. ( PubMed , DOI )

Isoda Takeshi, Takagi Masatoshi, Piao Jinhua, Nakagama Shun, Sato Masaki, Masuda Kyoko, Ikawa Tomokatsu, Azuma Miyuki, Morio Tomohiro, Kawamoto Hiroshi, Mizutani Shuki: T-Cell Development Failure At beta-Selection Checkpoint and TCR alpha/delta Locus Break Formation Associated with Chromosome 14 Translocation in Ataxia-Telangiectagia Mutated Deficient Mice BLOOD. 2011.11; 118 (21): 88-89.

Shimizu M, Nishio S, Ueno K, Yokoyama T, Sakai S, Nagaoki S, Sugimoto N, Ohta K, Miyamoto M, Yachie A: Isolated congenital megacystis without intestinal obstruction: a mild variant of chronic intestinal pseudoobstruction syndrome? Journal of pediatric surgery. 2011.11; 46 (11): e29-32. ( PubMed , DOI )

Shimizu M, Hashida Y, Ueno K, Yokoyama T, Nakayama Y, Saito T, Ohta K, Takehara K, Yachie A: Successful treatment with bosentan for pulmonary hypertension and reduced peripheral circulation in juvenile systemic sclerosis. Pediatric cardiology. 2011.10; 32 (7): 1040-2. ( PubMed , DOI )

Shizuka Watanabe, Yuriko Azami, Miwa Ozawa, Takahiro Kamiya, Daisuke Hasegawa, Chitose Ogawa, Yasushi Ishida, Ryota Hosoya, Junko Kizu, Atsushi Manabe: Intellectual development after treatment in children with acute leukemia and brain tumor. Pediatr Int. 2011.10; 53 (5): 694-700. ( PubMed , DOI )

Tomoko Mizuno, Masayuki Sasaki, Hirofumi Komaki, Hiroshi Sakuma, Yoshiaki Saito, Eiji Nakagawa, Kenji Sugai, Yuko Saito, Ikuya Nonaka, Yukio Sawaishi: A case of congenital axonal neuropathy associated with West syndrome. Brain Dev.. 2011.09; 33 (8): 692-696. ( PubMed , DOI )

Ohta K, Yokoyama T, Shimizu M, Mizuno K, Sakazume S, Fujiki T, Saikawa Y, Yachie A: Diffusion-weighted MRI of exercise-induced acute renal failure (ALPE). Pediatric nephrology (Berlin, Germany). 2011.08; 26 (8): 1321-4. ( PubMed , DOI )

Nakagawa N, Imai K, Kanegane H, Sato H, Yamada M, Kondoh K, Okada S, Kobayashi M, Agematsu K, Takada H, Mitsuiki N, Oshima K, Ohara O, Suri D, Rawat A, Singh S, Pan-Hammarström Q, Hammarström L, Reichenbach J, Seger R, Ariga T, Hara T, Miyawaki T, Nonoyama S.: Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J. Allergy Clin. Immunol.. 2011.07; 128 (1): 223-225.e2. ( PubMed , DOI )

Göksel Leblebisatan, Ali Bay, Noriko Mitsuiki, Osamu Ohara, Kenichi Honma, Kohsuke İmai, Shigeaki Nonoyama: Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia. Turk J Haematol. 2011.06; 28 (2): 139-141. ( PubMed , DOI )

Okura Y, Yamada M, Kobayashi I, Santisteban I, Arredondo-Santisteban G, Kato Z, Iguchi A, Yoshida M, Ohara O, Nakagawa N, Imai K, Hershfield MS, Ariga T.: ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability. Br. J. Haematol.. 2011.06; 153 (5): 675-676. ( PubMed , DOI )

Takagi Kae, Kawaguchi Yasushi, Kawamoto Manabu, Ota Yuko, Tochimoto Akiko, Gono Takahisa, Katsumata Yasuhiro, Takagi Masatoshi, Hara Masako, Yamanaka Hisashi: Activation of the activin A-ALK-Smad pathway in systemic sclerosis. J Autoimmun. 2011.05; 36 (3-4): 181-188. ( PubMed , DOI )

Masatoshi Takagi, Kunihiro Shinoda, Jinhua Piao, Noriko Mitsuiki, Mari Takagi, Kazuyuki Matsuda, Hideki Muramatsu, Sayoko Doisaki, Masayuki Nagasawa, Tomohiro Morio, Yoshihito Kasahara, Kenichi Koike, Seiji Kojima, Akira Takao, Shuki Mizutani: Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. Blood. 2011.03; 117 (10): 2887-2890. ( PubMed , DOI )

Tomoko Mizuno, Eiji Nakagawa, Hiroshi Sakuma, Yoshiaki Saito, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Akio Takahashi, Taisuke Otsuki, Kotoe Sakihara, Masumi Inagaki: Multiple band frequency analysis in a child of medial temporal lobe ganglioglioma. Childs Nerv Syst. 2011.03; 27 (3): 479-483. ( PubMed , DOI )

Erika Asai, Taizo Wada, Yasuhisa Sakakibara, Akiko Toga, Tomoko Toma, Takashi Shimizu, Sheela Nampoothiri, Kohsuke Imai, Shigeaki Nonoyama, Tomohiro Morio, Hideki Muramatsu, Yoshiro Kamachi, Osamu Ohara, Akihiro Yachie: Analysis of mutations and recombination activity in RAG-deficient patients. Clin. Immunol.. 2011.02; 138 (2): 172-177. ( PubMed , DOI )

Zhao M, Kanegane H, Kobayashi C, Nakazawa Y, Ishii E, Kasai M, Terui K, Gocho Y, Imai K, Kiyasu J, Nonoyama S, Miyawaki T.: Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry. Cytometry B Clin Cytom. 2011.01; 80 (1): 8-13. ( PubMed , DOI )

Yokoyama T, Shimizu M, Ohta K, Yuno T, Okajima M, Wada T, Toma T, Koizumi S, Yachie A: Urinary heme oxygenase-1 as a sensitive indicator of tubulointerstitial inflammatory damage in various renal diseases. American journal of nephrology. 2011; 33 (5): 414-20. ( PubMed , DOI )

Yokoyama T, Shimizu M, Ikeno I, Hashida Y, Fujita S, Shimura S, Hatasaki K, Shintani N, Yachie A: [Case of systemic-onset juvenile idiopathic arthritis complicated with sepsis --usefulness of cytokine profile for the differentiation between macrophage activation syndrome and sepsis]. Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology. 2011; 34 (2): 105-11. ( PubMed , DOI )

Yoshiko Hashii, Hisao Yoshida, Sato Kuroda, Shigenori Kusuki, Emiko Sato, Sadao Tokimasa, Hideaki Ohta, Yasutaka Matsubara, Seiji Kinoshita, Noriko Nakagawa, Kohsuke Imai, Shigeaki Nonoyama, Koichi Oshima, Osamu Ohara, Keiichi Ozono: Hemophagocytosis after bone marrow transplantation for JAK3-deficient severe combined immunodeficiency. Pediatr Transplant. 2010.12; 14 (8): E105-E109. ( PubMed , DOI )

Wada T, Mase S, Shibata F, Shimizu M, Toma T, Yachie A: Differential resistance to antiviral drugs in an immunocompromised patient with cytomegalovirus encephalitis. Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology. 2010.11; 49 (3): 223-4. ( PubMed , DOI )

Shimizu M, Tone Y, Toga A, Yokoyama T, Wada T, Toma T, Yachie A: Colchicine-responsive chronic recurrent multifocal osteomyelitis with MEFV mutations: a variant of familial Mediterranean fever? Rheumatology (Oxford, England). 2010.11; 49 (11): 2221-3. ( PubMed , DOI )

Takahiro Kamiya, Atsushi Manabe: Congenital dyserythropoietic anemia. Int. J. Hematol.. 2010.10; 92 (3): 432-438. ( PubMed , DOI )

Shimizu M, Kitagawa K, Nishio S, Yokoyama T, Furuichi K, Ohta K, Wada T, Yachie A: Successful treatment of recurrent focal segmental glomerulosclerosis after renal transplantation by lymphocytapheresis and rituximab. Transplant international : official journal of the European Society for Organ Transplantation. 2010.09; 23 (9): e53-5. ( PubMed , DOI )

Shimizu M, Yokoyama T, Yamada K, Kaneda H, Wada H, Wada T, Toma T, Ohta K, Kasahara Y, Yachie A: Distinct cytokine profiles of systemic-onset juvenile idiopathic arthritis-associated macrophage activation syndrome with particular emphasis on the role of interleukin-18 in its pathogenesis. Rheumatology (Oxford, England). 2010.09; 49 (9): 1645-53. ( PubMed , DOI )

Nikolov NP, Shimizu M, Cleland S, Bailey D, Aoki J, Strom T, Schwartzberg PL, Candotti F, Siegel RM: Systemic autoimmunity and defective Fas ligand secretion in the absence of the Wiskott-Aldrich syndrome protein. Blood. 2010.08; 116 (5): 740-7. ( PubMed , DOI )

I Tsuge, Y Kondo, Y Nakajima, N Nakagawa, K Imai, S Nonoyama, K Oshima, O Ohara, M Hatanaka, E Kitano, H Kitamura, A Urisu: Hyper IgM syndrome and complement Clq deficiency in an individual with systemic lupus erythematosus-like disease. Clin Exp Rheumatol. 2010.07; 28 (4): 558-560. ( PubMed )

Masaki Shimizu, Tamejiro Hiyama: Organic fluorophores exhibiting highly efficient photoluminescence in the solid state. Chem Asian J. 2010.07; 5 (7): 1516-1531. ( PubMed , DOI )

Shimizu M, Yokoyama T, Wada T, Yachie A: Bicipital synovial cyst in systemic-onset juvenile idiopathic arthritis. The Journal of pediatrics. 2010.07; 157 (1): 168. ( PubMed , DOI )

Sato Masaki, Takagi Masatoshi, Mizutani Shuki: Irradiation-induced p53 expression is attenuated in cells with NQO1 C465T polymorphism. J Med Dent Sci. 2010.06; 57 (2): 139-145. ( PubMed )

Kawagishi Hiroyuki, Nakamura Hideaki, Maruyama Mitsuo, Mizutani Shuki, Sugimoto Kazushi, Takagi Masatoshi, Sugimoto Masataka: ARF suppresses tumor angiogenesis through translational control of VEGFA mRNA. Cancer Res. 2010.06; 70 (11): 4749-4758. ( PubMed , DOI )

Nagasawa Masayuki, Mitsuiki Noriko, Ono Toshiaki, Takagi Masatoshi, Oda Hiromi, Yasuhara Masato, Mizutani Shuki: Pharmacokinetic monitoring is still required for intravenous busulfan in SCT for small children. Int J Hematol. 2010.05; 91 (4): 728-730. ( PubMed , DOI )

Daiju Oba, Masaharu Hayashi, Motoyuki Minamitani, Shinichiro Hamano, Naoki Uchisaka, Akira Kikuchi, Hiroshi Kishimoto, Masatoshi Takagi, Tomohiro Morio, Shuki Mizutani: Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. Acta Neuropathol.. 2010.04; 119 (4): 513-520. ( PubMed , DOI )

Michael H Albert, Tanja C Bittner, Shigeaki Nonoyama, Lucia Dora Notarangelo, Siobhan Burns, Kohsuke Imai, Teresa Espanol, Anders Fasth, Isabelle Pellier, Gabriele Strauss, Tomohiro Morio, Benjamin Gathmann, Jeroen G Noordzij, Cristina Fillat, Manfred Hoenig, Michaela Nathrath, Alfons Meindl, Philipp Pagel, Uwe Wintergerst, Alain Fischer, Adrian J Thrasher, Bernd H Belohradsky, Hans D Ochs: X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood. 2010.04; 115 (16): 3231-3238. ( PubMed , DOI )

A Aghamohammadi, K Imai, K Moazzami, H Abolhassani, M Tabatabaeiyan, N Parvaneh, R Nasiri Kalmarzi, N Nakagawa, K Oshima, O Ohara, S Nonoyama, N Rezaei: Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome. J Investig Allergol Clin Immunol. 2010; 20 (5): 442-445. ( PubMed )

Ichijima Yosuke, Yoshioka Ken-ichi, Yoshioka Yoshiko, Shinohe Keitaro, Fujimori Hiroaki, Unno Junya, Takagi Masatoshi, Goto Hidemasa, Inagaki Masaki, Mizutani Shuki, Teraoka Hirobumi: DNA lesions induced by replication stress trigger mitotic aberration and tetraploidy development. PLoS One. 2010; 5 (1): e8821. ( PubMed , DOI )

Shivakumar Keerthikumar, Sahely Bhadra, Kumaran Kandasamy, Rajesh Raju, Y L Ramachandra, Chiranjib Bhattacharyya, Kohsuke Imai, Osamu Ohara, Sujatha Mohan, Akhilesh Pandey: Prediction of candidate primary immunodeficiency disease genes using a support vector machine learning approach. DNA Res. 2009.12; 16 (6): 345-351. ( PubMed , DOI )

Wada T, Yokoyama T, Nakagawa H, Asai E, Toga A, Sakakibara Y, Shibata F, Tone Y, Shimizu M, Toma T, Yachie A: Flow cytometric analysis of skin blister fluid induced by mosquito bites in a patient with chronic active Epstein-Barr virus infection. International journal of hematology. 2009.12; 90 (5): 611-615. ( PubMed , DOI )

Tomohiro Morio, Naomi Takahashi, Fumiaki Watanabe, Fumiko Honda, Masaki Sato, Masatoshi Takagi, Ken-ichi Imadome, Toshio Miyawaki, Domenico Delia, Kotoka Nakamura, Richard A Gatti, Shuki Mizutani: Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan. Int. J. Hematol.. 2009.11; 90 (4): 455-462. ( PubMed , DOI )

Isoda Takeshi, Ford Anthony, Tomizawa Daisuke, van Delft Frederik W., de Castro David Gonzalez, Mitsuiki Noriko, Score Joannah, Taki Tomohiko, Morio Tomohiro, Takagi Masatoshi, Saji Hiroh, Mizutani Shuki, Greaves Mel: Loss of Non-Inherited Maternal MHC and Materno-Fetal Transmission of p190 Type BCR-ABL Leukemia BLOOD. 2009.11; 114 (22): 407.

Shimizu M, Araki R, Niida Y, Nakada M, Yachie A, Kamide T, Yokoyama T, Iwasa T, Kubo T: Mollaret meningitis associated with occipital dermal sinus. The Journal of pediatrics. 2009.11; 155 (5): 757.e1. ( PubMed , DOI )

Takeshi Isoda, Anthony M Ford, Daisuke Tomizawa, Frederik W van Delft, David Gonzalez De Castro, Norkio Mitsuiki, Joannah Score, Tomohiko Taki, Tomohiro Morio, Masatoshi Takagi, Hiroh Saji, Mel Greaves, Shuki Mizutani: Immunologically silent cancer clone transmission from mother to offspring. Proc. Natl. Acad. Sci. U.S.A.. 2009.10; 106 (42): 17882-17885. ( PubMed , DOI )

Naoki Uchisaka, Naomi Takahashi, Masaki Sato, Akira Kikuchi, Shinji Mochizuki, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Fumiaki Watanabe, Shuki Mizutani, Ryoji Hanada, Tomohiro Morio: Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. J Pediatr. 2009.09; 155 (3): 435-438. ( PubMed , DOI )

Shimizu M, Yamazaki M, Horisawa T, Seno A, Ohta K, Furuichi K, Yachie A: Catastrophic anti-phospholipid syndrome associated with Escherichia coli O157 infection. Rheumatology (Oxford, England). 2009.09; 48 (9): 1168-9. ( PubMed , DOI )

M Honda, M Takagi, L Chessa, T Morio, S Mizuatni: Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation. Leukemia. 2009.02; 23 (2): 409-414. ( PubMed , DOI )

Shivakumar Keerthikumar, Rajesh Raju, Kumaran Kandasamy, Atsushi Hijikata, Subhashri Ramabadran, Lavanya Balakrishnan, Mukhtar Ahmed, Sandhya Rani, Lakshmi Dhevi N Selvan, Devi S Somanathan, Somak Ray, Mitali Bhattacharjee, Sashikanth Gollapudi, Y L Ramachandra, Sahely Bhadra, Chiranjib Bhattacharyya, Kohsuke Imai, Shigeaki Nonoyama, Hirokazu Kanegane, Toshio Miyawaki, Akhilesh Pandey, Osamu Ohara, Sujatha Mohan: RAPID: Resource of Asian Primary Immunodeficiency Diseases. Nucleic Acids Res. 2009.01; 37 (Database issue): D863-D867. ( PubMed , DOI )

Yoichiro Tsuji, Issei Tokimatsu, Takashi Sugita, Masatoshi Nozaki, Daisuke Kobayashi, Kohsuke Imai, Kazuhiro Kogawa, Shigeaki Nonoyama: Quantitative PCR assay used to monitor serum Trichosporon asahii DNA concentrations in disseminated trichosporonosis. Pediatr Infect Dis J. 2008.11; 27 (11): 1035-1037. ( PubMed , DOI )

Wada T, Yasui M, Toma T, Nakayama Y, Nishida M, Shimizu M, Okajima M, Kasahara Y, Koizumi S, Inoue M, Kawa K, Yachie A: Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. Blood. 2008.09; 112 (5): 1872-5. ( PubMed , DOI )

Fujimoto M, Imai K, Hirata K, Kashiwagi R, Morinishi Y, Kitazawa K, Sasaki S, Arinami T, Nonoyama S, Noguchi E.: Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes. 2008.05; ( PubMed )

Kawagishi Hiroyuki, Wakoh Takeshi, Uno Hatsume, Maruyama Mitsuo, Moriya Ayako, Morikawa Satoru, Okano Hideyuki, Sherr Charles J, Takagi Masatoshi, Sugimoto Masataka: Hzf regulates adipogenesis through translational control of C/EBPalpha. EMBO J. 2008.05; 27 (10): 1481-1490. ( PubMed , DOI )

Hiroka Takahashi, Atsushi Manabe, Chiaki Aoyama, Takahiro Kamiya, Itaru Kato, Ayako Takusagawa, Chitose Ogawa, Miwa Ozawa, Ryota Hosoya, Kunihiko Yokoyama: Iodine-131-metaiodobenzylguanidine therapy with reduced-intensity allogeneic stem cell transplantation in recurrent neuroblastoma. Pediatr Blood Cancer. 2008.03; 50 (3): 676-678. ( PubMed , DOI )

Yoichiro Tsuji, Kazuhiro Kogawa, Kohsuke Imai, Hirokazu Kanegane, Junichiro Fujimoto, Shigeaki Nonoyama: Evans syndrome in a patient with Langerhans cell histiocytosis: possible pathogenesis of autoimmunity in LCH. Int J Hematol. 2008.01; 87 (1): 75-77. ( PubMed , DOI )

Ono Makoto, Kashimada Kenichi, Miyai Kentaro, Onishi Toshikazu, Takagi Masatoshi, Honma Seijiro, Mizutani Shuki: In Vitro Enzyme Assay of CYP21A2 Mutation (R483Q) by A Novel Method Using Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry (LC-ESI-MS/MS). Clin Pediatr Endocrinol. 2008; 17 (2): 49-56. ( PubMed , DOI )

Yoichiro Tsuji, Kohsuke Imai, Yoichi Morinishi, Kazuhiro Kogawa, Masaaki Morino, Shigeaki Nonoyama: Successful unrelated cord blood transplantation for a patient with CD40 ligand deficiency. Haematologica. 2007.12; 92 (12): 1727-1728. ( PubMed , DOI )

Isoda Takeshi, Ito Sukeyuki, Kajiwara Michiko, Nagasawa Masayuki: Successful high-dose methotrexate chemotherapy in a patient with acute lymphocytic leukemia who developed acute renal failure during the initial treatment PEDIATRICS INTERNATIONAL. 2007.12; 49 (6): 1018-1019. ( PubMed , DOI )

S Horibe, M Takagi, J Unno, M Nagasawa, T Morio, A Arai, O Miura, M Ohta, M Kitagawa, S Mizutani: DNA damage check points prevent leukemic transformation in myelodysplastic syndrome. Leukemia. 2007.10; 21 (10): 2195-2198. ( PubMed , DOI )

Tomoharu Tokutomi, Shin Hayashi, Kohsuke Imai, Ayako Chida, Takahiro Ishiwata, Yuh Asano, Johji Inazawa, Shigeaki Nonoyama: dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia. Am J Med Genet A. 2007.06; 143A (12): 1334-1337. ( PubMed , DOI )

Sophie Péron, Qiang Pan-Hammarström, Kohsuke Imai, Likun Du, Nadine Taubenheim, Ozden Sanal, Laszlo Marodi, Anne Bergelin-Besançon, Malika Benkerrou, Jean-Pierre de Villartay, Alain Fischer, Patrick Revy, Anne Durandy: A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. J Exp Med. 2007.05; 204 (5): 1207-1216. ( PubMed , DOI )

Itaru Kato, Atsushi Manabe, Chiaki Aoyama, Takahiro Kamiya, Tsuyoshi Morimoto, Hiroshi Matsufuji, Koyu Suzuki, Yoshiro Kitagawa, Toshinori Hori, Masahito Tsurusawa, Nobutaka Kiyokawa, Fujimoto Junichiro, Ryota Hosoya: Development of diffuse large B cell lymphoma during the maintenance therapy for B-lineage acute lymphoblastic leukemia. Pediatr Blood Cancer. 2007.02; 48 (2): 230-232. ( PubMed , DOI )

Ohta K, Shimizu M, Nakai A, Toma T, Kasahara Y, Arii C, Yachie A, Kawamura T, Aikawa A, Hasegawa A, Sato K, Yokoyama H, Ishikawa I, Koizumi S: Rituximab therapy for Epstein-Barr virus-related chronic hepatitis following living donor kidney transplantation. American journal of kidney diseases : the official journal of the National Kidney Foundation. 2006.12; 48 (6): 986-9. ( PubMed , DOI )

Yoshiyuki Minegishi, Masako Saito, Tomohiro Morio, Ken Watanabe, Kazunaga Agematsu, Shigeru Tsuchiya, Hidetoshi Takada, Toshiro Hara, Nobuaki Kawamura, Tadashi Ariga, Hideo Kaneko, Naomi Kondo, Ikuya Tsuge, Akihiro Yachie, Yukio Sakiyama, Tsutomu Iwata, Fumio Bessho, Tsutomu Ohishi, Kosuke Joh, Kohsuke Imai, Kazuhiro Kogawa, Miwa Shinohara, Mikiya Fujieda, Hiroshi Wakiguchi, Srdjan Pasic, Mario Abinun, Hans D Ochs, Eleonore D Renner, Annette Jansson, Bernd H Belohradsky, Ayse Metin, Norio Shimizu, Shuki Mizutani, Toshio Miyawaki, Shigeaki Nonoyama, Hajime Karasuyama: Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006.11; 25 (5): 745-755. ( PubMed , DOI )

Schneider Jochen G, Finck Brian N, Ren Jie, Standley Kara N, Takagi Masatoshi, Maclean Kirsteen H, Bernal-Mizrachi Carlos, Muslin Anthony J, Kastan Michael B, Semenkovich Clay F: ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome. Cell Metab. 2006.11; 4 (5): 377-389. ( PubMed , DOI )

Masayuki Nagasawa, Takeshi Isoda, Sukeyuki Itoh, Michiko Kajiwara, Tomohiro Morio, Norio Shimizu, Kazuyuki Ogawa, Kinya Nagata, Masataka Nakamura, Shuki Mizutani: Analysis of serum granulysin in patients with hematopoietic stem-cell transplantation: its usefulness as a marker of graft-versus-host reaction. Am. J. Hematol.. 2006.05; 81 (5): 340-348. ( PubMed , DOI )

Shimizu M, Ohta K, Wada H, Sumita R, Yachie A, Koizumi S: Cytomegalovirus-associated protracted diarrhoea in an immunocompetent boy. Journal of paediatrics and child health. 2006.05; 42 (5): 259-62. ( PubMed , DOI )

Isoda Takeshi, Ushirogochi Hideki, Satoh Koichi, Takasaki Tsuyoshi, Yamamura Itsuki, Sato Chisato, Mihira Ado, Abe Takao, Tamai Satoshi, Yamamoto Shigeki, Kumagai Toshio, Nagao Yoshimitsu: 経口カルバペネムL-084のエステル型プロドラッグの合成と薬物動態の研究(Syntheses and Pharmacokinetic Studies of Prodrug Esters for the Development of Oral Carbapenem, L-084) The Journal of Antibiotics. 2006.04; 59 (4): 241-247. ( 医中誌 )

Y Tsuji, K Imai, M Kajiwara, Y Aoki, T Isoda, D Tomizawa, M Imai, S Ito, H Maeda, Y Minegishi, H Ohkawa, J Yata, N Sasaki, K Kogawa, M Nagasawa, T Morio, S Nonoyama, S Mizutani: Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team. Bone Marrow Transplant. 2006.03; 37 (5): 469-477. ( PubMed , DOI )

Y Tsuji, K Imai, M Kajiwara, Y Aoki, T Isoda, D Tomizawa, M Imai, S Ito, H Maeda, Y Minegishi, H Ohkawa, J Yata, N Sasaki, K Kogawa, M Nagasawa, T Morio, S Nonoyama, S Mizutani: Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team. Bone Marrow Transplant.. 2006.03; 37 (5): 469-477. ( PubMed , DOI )

Takagi Masatoshi, Absalon Michael J, McLure Kevin G, Kastan Michael B: Regulation of p53 translation and induction after DNA damage by ribosomal protein L26 and nucleolin. Cell. 2005.10; 123 (1): 49-63. ( PubMed , DOI )

Shimizu M, Ohta K, Yang Y, Nakai A, Toma T, Saikawa Y, Kasahara Y, Yachie A, Yokoyama H, Seki H, Koizumi S: Glomerular proteinuria induces heme oxygenase-1 gene expression within renal epithelial cells. Pediatric research. 2005.10; 58 (4): 666-71. ( PubMed , DOI )

Yoichiro Tsuji, Sukeyuki Ito, Takeshi Isoda, Michiko Kajiwara, Masayuki Nagasawa, Tomohiro Morio, Shuki Mizutani: Successful nonmyeloablative cord blood transplantation for an infant with malignant infantile osteopetrosis. J. Pediatr. Hematol. Oncol.. 2005.09; 27 (9): 495-498. ( PubMed )

Tsuji Y, Ito S, Isoda T, Kajiwara M, Nagasawa M, Morio T, Mizutani S: Successful nonmyeloablative cord blood transplantation for an infant with malignant infantile osteopetrosis JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY. 2005.09; 27 (9): 495-498.

Kavli B, Andersen S, Otterlei M, Liabakk NB, Imai K, Fischer A, Durandy A, Krokan HE, Slupphaug G.: B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil. J. Exp. Med.. 2005.06; 201 (12): 2011-2021. ( PubMed , DOI )

Anne Durandy, Patrick Revy, Kohsuke Imai, Alain Fischer: Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects. Immunol Rev. 2005.02; 203 67-79. ( PubMed , DOI )

Kae Takagi, Masatoshi Takagi, Siva Kanangat, Kenneth J Warrington, Hidenobu Shigemitsu, Arnold E Postlethwaite: Modulation of TNF-alpha gene expression by IFN-gamma and pamidronate in murine macrophages: regulation by STAT1-dependent pathways. J. Immunol.. 2005.02; 174 (4): 1801-1810. ( PubMed )

Masayuki Nagasawa, Yi Zhu, Takeshi Isoda, Daisuke Tomizawa, Sukeyuki Itoh, Michiko Kajiwara, Tomohiro Morio, Shigeaki Nonoyama, Norio Shimizu, Shuki Mizutani: Analysis of serum soluble CD40 ligand (sCD40L) in the patients undergoing allogeneic stem cell transplantation: platelet is a major source of serum sCD40L. Eur. J. Haematol.. 2005.01; 74 (1): 54-60. ( PubMed , DOI )

Nagasawa M, Zhu Y, Isoda T, Tomizawa D, Itoh S, Kajiwara M, Morio T, Nonoyama S, Shimizu N, Mizutani S: Analysis of serum soluble CD40 ligand (sCD40L) in the patients undergoing allogeneic stem cell transplantation: platelet is a major source of serum sCD40L EUROPEAN JOURNAL OF HAEMATOLOGY. 2005.01; 74 (1): 54-60.

Shimizu M, Katayama K, Kato E, Miyayama S, Sugata T, Ohta K: Evolution of acute focal bacterial nephritis into a renal abscess. Pediatric nephrology (Berlin, Germany). 2005.01; 20 (1): 93-5. ( PubMed , DOI )

McLure Kevin G, Takagi Masatoshi, Kastan Michael B: NAD+ modulates p53 DNA binding specificity and function. Mol Cell Biol. 2004.11; 24 (22): 9958-9967. ( PubMed , DOI )

Mansour Akbari, Marit Otterlei, Javier Peña-Diaz, Per Arne Aas, Bodil Kavli, Nina B Liabakk, Lars Hagen, Kohsuke Imai, Anne Durandy, Geir Slupphaug, Hans E Krokan: Repair of U/G and U/A in DNA by UNG2-associated repair complexes takes place predominantly by short-patch repair both in proliferating and growth-arrested cells. Nucleic Acids Res. 2004.10; 32 (18): 5486-5498. ( PubMed , DOI )

Daisuke Tomizawa, Kohsuke Imai, Sukeyuki Ito, Michiko Kajiwara, Yoshiyuki Minegishi, Masayuki Nagasawa, Tomohiro Morio, Shigeaki Nonoyama, Shuki Mizutani: Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: a single center experience. Am J Hematol. 2004.05; 76 (1): 33-39. ( PubMed , DOI )

Takagi Masatoshi, Tsuchida Rika, Oguchi Kaoru, Shigeta Teruko, Nakada Shinichiro, Shimizu Kimiko, Ohki Misao, Delia Domenico, Chessa Luciana, Taya Yoichi, Nakanishi Makoto, Tsunematsu Yukiko, Bessho Fumio, Isoyama Keiichi, Hayashi Yoshiki, Kudo Kazuko, Okamura Jun, Mizutani Shuki: Identification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in childhood Hodgkin disease. Blood. 2004.01; 103 (1): 283-290. ( PubMed , DOI )

Yang Y, Ohta K, Shimizu M, Morimoto K, Goto C, Nakai A, Toma T, Kasahara Y, Yachie A, Seki H, Koizumi S: Selective protection of renal tubular epithelial cells by heme oxygenase (HO)-1 during stress-induced injury. Kidney international. 2003.10; 64 (4): 1302-9. ( PubMed , DOI )

Van-Thanh Ta, Hitoshi Nagaoka, Nadia Catalan, Anne Durandy, Alain Fischer, Kohsuke Imai, Shigeaki Nonoyama, Junko Tashiro, Masaya Ikegawa, Satomi Ito, Kazuo Kinoshita, Masamichi Muramatsu, Tasuku Honjo: AID mutant analyses indicate requirement for class-switch-specific cofactors. Nat Immunol. 2003.09; 4 (9): 843-848. ( PubMed , DOI )

Nadia Catalan, Françoise Selz, Kohsuke Imai, Patrick Revy, Alain Fischer, Anne Durandy: The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region. J Immunol. 2003.09; 171 (5): 2504-2509. ( PubMed , DOI )

Oguchi Kaoru, Takagi Masatoshi, Tsuchida Rika, Taya Yoichi, Ito Etsuro, Isoyama Keiichi, Ishii Eiichi, Zannini Laura, Delia Domenico, Mizutani Shuki: Missense mutation and defective function of ATM in a childhood acute leukemia patient with MLL gene rearrangement. Blood. 2003.05; 101 (9): 3622-3627. ( PubMed , DOI )

Tsuchida Rika, Miyauchi Jun, Shen Lisong, Takagi Masatoshi, Tsunematsu Yukiko, Saeki Morihiro, Honna Toshiro, Yamada Seiko, Teraoka Hirobumi, Kato Jun-Ya, Mizutani Shuki: Expression of cyclin-dependent kinase inhibitor p27/Kip1 and AP-1 coactivator p38/Jab1 correlates with differentiation of embryonal rhabdomyosarcoma. Jpn J Cancer Res. 2002.09; 93 (9): 1000-1006. ( PubMed )

Hirokazu Inoue, Hidemitsu Kurosawa, Shigeaki Nonoyama, Kohsuke Imai, Hisami Kumazaki, Takayuki Matsunaga, Yuya Sato, Kenichi Sugita, Mitsuoki Eguchi: X-linked thrombocytopenia in a girl. Br J Haematol. 2002.09; 118 (4): 1163-1165. ( PubMed , DOI )

Tsuchida Rika, Yamada Takayuki, Takagi Masatoshi, Shimada Akira, Ishioka Chikashi, Katsuki Yoko, Igarashi Takashi, Chessa Luciana, Delia Domenico, Teraoka Hirobumi, Mizutani Shuki: Detection of ATM gene mutation in human glioma cell line M059J by a rapid frameshift/stop codon assay in yeast. Radiat Res. 2002.08; 158 (2): 195-201. ( PubMed )

戸谷剛, 富澤大輔, 中田慎一郎, 今井雅子, 今井耕輔, 梶原道子, 長沢正之, 森尾友宏, 野々山恵章, 水谷修紀, 清水則夫, 山本興太郎, 関根暉彬: 化学療法回復期HPSの対応に苦慮した慢性活動性EBV感染症・NKリンパ腫症例 血液・腫瘍科. 2001.12; 43 (6): 483-484.

Y Jin, S Nonoyama, T Morio, K Imai, H D Ochs, S Mizutani: Characterization of soluble CD40 ligand released from human activated platelets. J Med Dent Sci. 2001.03; 48 (1): 23-27. ( PubMed )

M Nagasawa, M Imai, K Imai, S Itoh, M Kajiwara, T Morio, S Nonoyama: In vivo class switch of B cells after cord blood stem cell transplantation in severe combined immune deficient (SCID) patient. Am J Hematol. 2000.10; 65 (2): 176-177. ( PubMed , DOI )

S Kumaki, N Ishii, M Minegishi, Y Ohashi, I Hakozaki, S Nonoyama, K Imai, T Morio, I Tsuge, Y Sakiyama, A Miyanoshita, J Miura, M Mayumi, T Heike, K Katamura, H Takada, I Izumi, J Kamizono, S Hibi, H Sasaki, M Kimura, A Kikuta, Y Date, M Sako, H Tanaka, K Sano, K Sugamura, S Tsuchiya: Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID). Hum Genet. 2000.10; 107 (4): 406-408. ( PubMed , DOI )

Sugimoto K, Tamayose K, Takagi M, Yamada K, Sasaki M, Mizutani S, Oshimi K: Activation of an ataxia telangiectasia mutation-dependent intra-S-phase checkpoint by anti-tumour drugs in HL-60 and human lymphoblastoid cells. Br J Haematol. 2000.09; 110 (4): 819-825. ( PubMed )

S Itoh, S Nonoyama, T Morio, K Imai, H Okawa, H D Ochs, M Shimadzu, J Yata: Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Int J Hematol. 2000.01; 71 (1): 79-83. ( PubMed )

M Kajiwara, S Nonoyama, M Eguchi, T Morio, K Imai, H Okawa, M Kaneko, M Sako, S Ohga, M Maeda, S Hibi, H Hashimito, A Shibuya, H D Ochs, T Nakahata, J I Yata: WASP is involved in proliferation and differentiation of human haemopoietic progenitors in vitro. Br J Haematol. 1999.11; 107 (2): 254-262. ( PubMed , DOI )

M Kato, H Miki, K Imai, S Nonoyama, T Suzuki, C Sasakawa, T Takenawa: Wiskott-Aldrich syndrome protein induces actin clustering without direct binding to Cdc42. J Biol Chem. 1999.09; 274 (38): 27225-27230. ( PubMed , DOI )

Shigeta T, Takagi M, Delia D, Chessa L, Iwata S, Kanke Y, Asada M, Eguchi M, Mizutani S: Defective control of apoptosis and mitotic spindle checkpoint in heterozygous carriers of ATM mutations. Cancer Res. 1999.06; 59 (11): 2602-2607. ( PubMed )

Y Baba, S Nonoyama, M Matsushita, T Yamadori, S Hashimoto, K Imai, S Arai, T Kunikata, M Kurimoto, T Kurosaki, H D Ochs, J i Yata, T Kishimoto, S Tsukada: Involvement of wiskott-aldrich syndrome protein in B-cell cytoplasmic tyrosine kinase pathway. Blood. 1999.03; 93 (6): 2003-2012. ( PubMed )

Iwata S, Sato Y, Asada M, Takagi M, Tsujimoto A, Inaba T, Yamada T, Sakamoto S, Yata J, Shimogori T, Igarashi K, Mizutani S: Anti-tumor activity of antizyme which targets the ornithine decarboxylase (ODC) required for cell growth and transformation. Oncogene. 1999.01; 18 (1): 165-172. ( PubMed , DOI )

Takagi M, Shigeta T, Asada M, Iwata S, Nakazawa S, Kanke Y, Ishimoto K, Mizutani S: DNA damage-associated cell cycle and cell death control is differentially modulated by caffeine in clones with p53 mutations. Leukemia. 1999.01; 13 (1): 70-77. ( PubMed )

Shigeta T, Takagi M, Delia D, Chessa L, Iwata S, Kanke Y, Asada M, Eguchi M, Mizutani S.: Defective control of apoptosis, radiosensitivity, and spindle checkpoint in ataxia telangiectasia. Cancer Res. 1998.11; 58 (21): 4923-4929. ( PubMed )

Takagi M, Takahiashi K, Maruyama T, Kaneko K, Obinata K, Tadokoro R, Kastumata K, Miura Y, Fujita H, Tokita A, Ishimoto K, Yabuta K: Acute lymphoblastic leukemia accompanied by severe hypercalcemia: successful treatment including aminohydroxypropylidene bisphosphonate (pamidronate disodium) Pediatr Hematol Oncol. 1998.05; 15 (3): 283-286. ( PubMed )

Kaneko K, Takahashi K, Unno A, Takagi M, Maruyama T, Obinata K, Tsuchihashi N, Kawashiro N, Sakai H: Lingual cyst in infancy: importance of palpation for diagnosis. Acta Paediatr Jpn. 1997.08; 39 (4): 475-477. ( PubMed )

Goi K, Takagi M, Iwata S, Delia D, Asada M, Donghi R, Tsunematsu Y, Nakazawa S, Yamamoto H, Yokota J, Tamura K, Saeki Y, Utsunomiya J, Takahashi T, Ueda R, Ishioka C, Eguchi M, Kamata N, Mizutani S: DNA damage-associated dysregulation of the cell cycle and apoptosis control in cells with germ-line p53 mutation. Cancer Res. 1997.05; 57 (10): 1895-1902. ( PubMed )

Takagi M, Unno A, Maruyama T, Kaneko K, Obinata K: Human herpesvirus-6 (HHV-6)-associated hemophagocytic syndrome. Pediatr Hematol Oncol. 1996.09; 13 (5): 451-456. ( PubMed )

Kaneko K, Unno A, Takagi M, Maruyama T, Obinata K: Kawasaki disease in dizygotic twins. Eur J Pediatr. 1995.10; 154 (10): 868. ( PubMed )

宮岡 双葉, 清水 正樹, 伊良部 仁, 林 祐子, 畠野 真帆, 金子 修也, 真保 麻実, 阿久津 裕子: 関節症状を主症状とした抗MDA5抗体陽性若年性皮膚筋炎の女児例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2025.10; 34回 155. ( 医中誌 )

林 祐子, 畠野 真帆, 金子 修也, 伊良部 仁, 阿久津 裕子, 清水 正樹: 無巨核球性血小板減少症を呈した全身性エリテマトーデスの男児例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2025.10; 34回 139. ( 医中誌 )

松岡 高弘, 林 祐子, 金田 朋也, 伊良部 仁, 阿久津 裕子, 清水 正樹: 大動脈周囲炎を合併した川崎病の男児例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2025.10; 34回 149. ( 医中誌 )

阿久津 裕子: 【小児科医が知っておきたいリウマチ・膠原病の知識と実践】小児リウマチ性疾患のトピックス　小児リウマチ性疾患における遺伝子解析 小児内科. 2025.10; 57 (10): 1334-1338. ( 医中誌 )

山田 拓人, 石井 卓, 山口 洋平, 細川 奨: 学齢期に診断された心筋症症例における致死性不整脈の発生状況 日本小児科学会雑誌. 2025.08; 129 (8): 1005-1011. ( 医中誌 )

永松 優一, 石井 卓, 古川 晋, 長原 慧, 山口 洋平, 細川 奨: ステロイド依存性ARDSを反復したTCPC術後遠隔期症例 日本小児循環器学会総会・学術集会抄録集. 2025.07; 61回 III-P01. ( 医中誌 )

柏木 菜緒, 田中 里奈, 永松 優一, 古川 晋, 長原 慧, 下山 輝義, 櫻井 牧人, 山口 洋平, 石井 卓, 土井 庄三郎: 慢性肺疾患既往、心房中隔欠損症を有する小児期発症重症肺動脈性肺高血圧症例の長期治療経過 日本小児循環器学会総会・学術集会抄録集. 2025.07; 61回 III-P02. ( 医中誌 )

山口 洋平, 長原 慧, 大槻 彩子, 細川 奨, 土井 庄三郎, 石井 卓: 抗凝固療法を要する川崎病性冠動脈瘤症例における妊娠・出産の課題と対策 日本小児循環器学会総会・学術集会抄録集. 2025.07; 61回 I-P01. ( 医中誌 )

古川 晋, 永松 優一, 長原 慧, 下山 輝義, 櫻井 牧人, 山口 洋平, 石井 卓: 左室流出路狭窄を伴う心横紋筋腫に対してEverolimusが有効であった結節性硬化症の新生児例 日本小児循環器学会総会・学術集会抄録集. 2025.07; 61回 II-P02. ( 医中誌 )

山口 玲子, 瀬川 裕子, 宇都宮 啓, 宮武 和正, 伊良部 仁, 林 祐子, 阿久津 裕子, 清水 正樹, 吉井 俊貴, 森 雅亮: 小児リウマチ性疾患に併発した大腿骨寛骨臼インピンジメントに対して股関節鏡視下関節形成術を施行した2例 日本小児整形外科学会雑誌. 2025.06; 34 (1): 98. ( 医中誌 )

安達 恵利子, 齋藤 洋子, 折本 竜太, 山野 春樹, 桐野 玄, 我有 茉希, 中谷 久恵, 吉田 雅幸, 鹿島田 健一, 高澤 啓: 変異型INS遺伝子誘発性若年性糖尿病(MIDY)を示した2症例 日本内分泌学会雑誌. 2025.05; 101 (1): 373. ( 医中誌 )

安達 恵利子, 齋藤 洋子, 折本 竜太, 山野 春樹, 桐野 玄, 我有 茉希, 中谷 久恵, 吉田 雅幸, 鹿島田 健一, 高澤 啓: INS遺伝子異常による多様な糖尿病表現型とその臨床的特徴　2症例の報告 糖尿病. 2025.04; 68 (Suppl.): S-203. ( 医中誌 )

藤田 真依子, 鈴木 永里衣, 田中 瀬奈, 川上 美咲, 小田 充思, 飯田 忠恒, 並木 剛, 沖山 奈緒子, 阿久津 裕子, 清水 正樹: マイコプラズマ感染症が誘導したStevens-Johnson症候群without skin lesionsの2例 日本皮膚科学会雑誌. 2025.04; 135 (4): 818. ( 医中誌 )

齋藤 洋子, 我有 茉希, 家村 綾正, 折本 竜太, 山野 春樹, 中谷 久恵, 桐野 玄, 安達 恵利子, 鹿島田 健一, 高澤 啓: Xp21欠失症候群の多様な臨床像 日本内分泌学会雑誌. 2025.02; 100 (5): 1496. ( 医中誌 )

林 祐子, 畠野 真帆, 金子 修也, 金田 朋也, 真保 麻実, 伊良部 仁, 阿久津 裕子, 清水 正樹, 高木 正稔: 小児クローン病におけるMR enterocolonographyの臨床的有用性 日本小児科学会雑誌. 2025.02; 129 (2): 381. ( 医中誌 )

東條 真有, 中村 虹輝, 金子 千夏, 山口 洋平, 石井 卓, 細川 奨, 森尾 友宏: 高血圧を契機に単純型大動脈縮窄症の診断に至った10歳児 日本小児科学会雑誌. 2024.11; 128 (11): 1471. ( 医中誌 )

清水正樹, 畠野真帆, 伊良部仁, 林祐子, 高瀬博: ぶどう膜炎発症を契機に診断に至った環軸関節炎で発症した少関節炎型若年性特発性関節炎の女児例 小児科. 2024.11; 65 (11): 1176-1180. ( 医中誌 )

山口 洋平: 【つながる内分泌学-古典的な内分泌学から多分野への新たな展開-】多臓器につながる　実は内分泌臓器だった　心臓(HANP BNP) 小児科診療. 2024.10; 87 (10): 1395-1398. ( 医中誌 )

清水正樹: 【小児臨床検査2024】免疫学的検査　サイトカイン　生体防御(自然免疫・炎症)にかかわる主なサイトカインと可溶性受容体　IL-1,IL-6,IL-18,I型IFN,IFN-γ,TNF-α,可溶性TNF-RI,可溶性TNF-RII 小児内科 . 2024.10; 56 (増刊): 292-295.

山口 玲子, 瀬川 裕子, 宇都宮 啓, 宮武 和正, 伊良部 仁, 林 祐子, 阿久津 裕子, 清水 正樹, 吉井 俊貴, 森 雅亮: 若年発症の強直性脊椎炎に併発した大腿骨寛骨臼インピンジメントに対して股関節鏡視下関節形成術を施行した一例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2024.10; 33回 121. ( 医中誌 )

伊良部 仁, 畠野 真帆, 金子 修也, 金田 朋也, 真保 麻実, 阿久津 裕子, 井上 健斗, 林 祐子, 石井 卓, 清水 正樹: 心炎のみを呈した急性リウマチ熱の男子例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2024.10; 33回 132. ( 医中誌 )

畠野 真帆, 金田 朋也, 伊良部 仁, 林 祐子, 阿久津 裕子, 清水 正樹: 特徴的な造影MRI所見が診断契機となった筋限局型結節性多発動脈炎 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2024.10; 33回 125. ( 医中誌 )

阿久津 裕子, 伊良部 仁, 林 祐子, 高澤 啓, 清水 正樹, 森 雅亮: 小児リウマチ性疾患における医原性副腎不全　副腎皮質機能低下を呈した三例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2024.10; 33回 146. ( 医中誌 )

清水 正樹: マクロファージ活性化症候群の炎症病態における炎症性サイトカインの役割 臨床免疫・アレルギー科. 2024.09; 82 (3): 305-311. ( 医中誌 )

金子修也, 清水正樹: 血清サイトカインプロファイルおよびT細胞受容体レパトア解析を用いた川崎病およびmimickersの鑑別バイオマーカーの確立 アレルギーの臨床. 2024.08; 44 (600): 46-49.

清水正樹: 【公費補助制度を使いこなす!】全身性エリテマトーデス 小児科診療. 2024.08; 87 (8): 1006-1012.

松岡 高弘, 伊良部 仁, 金子 修也, 真保 麻実, 清水 正樹, 森尾 友宏: 冠動脈拡大を伴い川崎病ショック症候群と鑑別を要したトキシックショック症候群 日本小児科学会雑誌. 2024.08; 128 (8): 1078-1083. ( 医中誌 )

武井 陽, 長原 慧, 山口 洋平, 櫻井 牧人, 石井 卓, 細川 奨, 土井 庄三郎: 学校心臓検診を契機に発見された冠動脈瘤の一例 日本小児循環器学会総会・学術集会抄録集. 2024.07; 60回 III-P03. ( 医中誌 )

鍋島 惇也, 川畑 拓也, 石井 卓, 山口 洋平, 下山 輝義, 金子 千夏, 中村 虹輝: 拡張型心筋症による重症心不全に対して、体外式補助人工心臓によるbridge to candidateを経て移植登録及びHeartMate 3装着に到達した15歳女児の一例 日本小児循環器学会総会・学術集会抄録集. 2024.07; 60回 III-P01. ( 医中誌 )

中村 虹輝, 石井 卓, 金子 千夏, 下山 輝義, 山口 洋平, 櫻井 牧人, 細川 奨: 気道感染後に著明な肺高血圧の改善を認めた遺伝性肺動脈性肺高血圧症の1例 日本小児循環器学会総会・学術集会抄録集. 2024.07; 60回 III-P02. ( 医中誌 )

兒玉 昭彦, 菅原 祐之, 滝島 茂, 山野 春樹, 東 夏未, 布施 譲嗣, 佐藤 薫, 佐藤 健, 松田 希, 石橋 奈保子, 長谷川 毅: 口蓋垂裂が診断の契機となったTurner症候群の1例 日本小児科学会雑誌. 2024.07; 128 (7): 970. ( 医中誌 )

多田歩未, 井上健斗, 金兼弘和: 免疫疾患をもつ子ども 小児内科 6月号. 2024.06; 56 (6): 1008-1014.

田中俊博, 荒木かほる, 岡田雅彦, 金兼弘和, 多屋馨子, 塚原宏一, 長森恒久, 羽田敦子, 宮田一平, 山田全毅, 橋本浩一, 和田泰三, 片寄雅彦, 神野俊介, 亀井聡信, 清水博之, 新庄正宜 野村直子, 森雅亮: 感染症診断のための核酸検査に関するアンケート調査 小児感染症免疫. 2024.05; 36 (2): 183-194.

我有 茉希, 家村 綾正, 山野 春樹, 高澤 啓, 吉田 雅幸, 鹿島田 健一: 新生児期副腎不全を呈した自験例から振り返るXp21欠失症候群の多様な表現型 日本内分泌学会雑誌. 2024.05; 100 (1): 273. ( 医中誌 )

小宮 力, 村田 真麻, 山野 春樹, 原 一成, 村上 正憲, 柴 久美子, 辻本 和峰, 池田 賢司, 安達 恵利子, 鹿島田 健一, 山田 哲也: 吸入ステロイド薬の使用により顕在化したグルココルチコイド過敏症候群 日本内分泌学会雑誌. 2024.05; 100 (1): 426. ( 医中誌 )

緒方瑛人, 川口晃司, 丹後結衣, 福井渉, 安積昌平, 高地貴行, 小倉妙美, 児玉洋平, 中野玲二, 堀越泰雄, 金兼弘和, 渡邉健一郎: 臍帯血移植を行った重症複合免疫不全症を伴うCHARGE症候群 日本小児血液・がん学会誌. 2024.05; 61 (1): 12-16. ( DOI )

村上てるみ, 絹巻暁子, 小林久人, 荒木俊介, 糸永知代, 岩本典子, 大田千晴, 小泉美紀子, 眞田和哉, 高澤啓, 玉井資, 玉崎章子, 鉄原健一, 松島卓哉, 井原健二, 丸尾良浩, 日本小児科学会将来の小児科医を考える委員会: 将来の小児科医への提言2024 日本小児科学会雑誌. 2024.05; 128 (5): 758-762. ( 医中誌 )

石井 卓: 【完全把握をめざす小児の心疾患】先天性心疾患　総肺静脈還流異常症 小児内科. 2024.04; 56 (4): 571-574. ( 医中誌 )

家村 綾正, 我有 茉希, 山野 春樹, 高澤 啓, 鹿島田 健一: Xp21欠失症候群の多様な臨床像 日本内分泌学会雑誌. 2024.04; 99 (5): 1504. ( 医中誌 )

石井卓: 総肺静脈還流異常症 小児内科. 2024.04; 56 (4): 571-574.

清水 正樹: 【診療科連携が必要な境界領域】血球貪食性リンパ組織球症(HLH)とマクロファージ活性化症候群(MAS) リウマチ科. 2024.03; 71 (3): 227-237. ( 医中誌 )

林 祐子, 畠野 真帆, 金子 修也, 真保 麻実, 阿久津 裕子, 伊良部 仁, 清水 正樹, 森 雅亮: 小児の膠原病および若年性特発性関節炎・自己炎症症候群　メトトレキサート皮下注射を導入した小児期発症リウマチ性疾患4例の検討 日本リウマチ学会総会・学術集会プログラム・抄録集. 2024.03; 68回 548. ( 医中誌 )

吉野 明日香, 宮井 健太郎, 山野 春樹, 家村 綾正, 高澤 啓, 鹿島田 健一, 宮田 理英: 断乳を契機とした多飲から,中枢性尿崩症及びLangerhans細胞組織球症と診断した一例 日本小児科学会雑誌. 2024.02; 128 (2): 250. ( 医中誌 )

宮岡 双葉, 真保 麻実, 伊良部 仁, 金子 修也, 清水 正樹, 森尾 友宏: 初発時に急性ループス肺炎を認めた全身性エリテマトーデスの2例 小児リウマチ. 2024.02; 14 (1): 49-55. ( 医中誌 )

木島 英美, 横山 はるな, 岡田 麻理, 山村 悠, 中谷 久恵, 今井 雅子, 鈴木 奈都子, 金子 修也, 水野 朋子, 清水 正樹, 長澤 正之, 大柴 晃洋: 脳症とICU-acquired weaknessを合併した毒素性ショック症候群の1例 脳と発達. 2024.01; 56 (1): 58-62. ( 医中誌 )

西川 慶也, 田中 孝之, 石塚 潤, 三木 智貴, 中島 光司, 大塚 沙樹, 末廣 穣, 大封 智雄, 赤杉 和宏, 美馬 隆宏, 金子 修也, 清水 正樹, 樋口 嘉久: COVID-19患者との濃厚接触急性期に心原性ショックを呈した小児多系統炎症性症候群 日本小児科学会雑誌. 2024.01; 128 (1): 28-35.

木島 英美, 横山 はるな, 岡田 麻理, 山村 悠, 中谷 久恵, 今井 雅子, 鈴木 奈都子, 金子 修也, 水野 朋子, 清水 正樹, 長澤 正之, 大柴 晃洋: 脳症とICU-acquired weaknessを合併した毒素性ショック症候群の1例 脳と発達. 2024.01; 56 (1): 58-62.

倉信大，宮井健太郎，吉敷香菜子，石井卓，細川奨，宮田理英，村上信行,　清原鋼二: 窒息死に至った重複大動脈弓を合併したPrader-Willi症候群の一例 日本小児循環器学会雑誌. 2024; 40 (2): 132-137.

小川 和乃, 山田 拓人, 吉野 明日香, 山野 春樹, 下山 輝義, 伊藤 一之, 杉江 学, 森丘 千夏子, 森尾 友宏: 著明なるい瘻の母体から出生し,偽性Bartter症候群を呈した新生児の1例 日本小児科学会雑誌. 2023.12; 127 (12): 1553. ( 医中誌 )

山田 拓人, 吉野 明日香, 山野 春樹, 家村 綾正, 伊藤 一之, 大槻 彩子, 高澤 啓, 菊池 絵梨子, 鹿島田 健一, 森尾 友宏: 母体の高マグネシウム(Mg)血症による一過性低カルシウム(Ca)血症を呈した新生児例 日本小児科学会雑誌. 2023.12; 127 (12): 1551. ( 医中誌 )

黒石奈保, 金津真一, 高園貴弘, 岡本晃直, 冨田章裕, 山永成美, 剣持敬, 江川裕人, 井上健斗, 金兼弘和, 谷口俊文, 奥健志, 菊地勘, 四柳宏: 免疫不全患者における COVID-19 疾病負担 THERAPEUTIC RESEARCH. 2023.12; 44 (12): 881-897.

山内泰輔, 水野朋子: 【腫瘍随伴症候群】免疫学的機序によるもの　オプソクローヌス・ミオクローヌス症候群 臨床検査. 2023.11; 67 (11): 1272-1277.

清水 正樹: 【エキスパートが教える　小児の薬物治療】疾患別　J.膠原病　全身性エリテマトーデス 小児内科. 2023.11; 55 (増刊): 818-823. ( 医中誌 )

清水 正樹: 【自己炎症性疾患】クリオピリン関連周期熱症候群(CAPS) リウマチ科. 2023.11; 70 (5): 456-463. ( 医中誌 )

山内 泰輔, 水野 朋子: 【腫瘍随伴症候群】免疫学的機序によるもの　オプソクローヌス・ミオクローヌス症候群 臨床検査. 2023.11; 67 (11): 1272-1277. ( 医中誌 )

小笠原 啓祐, 水野 朋子, 神谷 尚宏, 平田 航, 田村 友美恵, 山内 泰輔, 鈴木 智典, 鹿島田 彩子, 水野 裕貴, 岡本 健太郎, 田中 陽典, 小林 大輔, 高木 正稔, 森尾 友宏: 低ガンマグロブリン血症に対し免疫グロブリン療法を行っている乳児全身性ヒアリン症 日本小児科学会雑誌. 2023.10; 127 (10): 1299-1305. ( 医中誌 )

水野 朋子: 【日常診療で見落としたくない神経疾患】新たな診断・治療が可能となった疾患　脊髄性筋萎縮症 小児科. 2023.10; 64 (10): 1012-1018. ( 医中誌 )

折本 竜太, 山野 春樹, 家村 綾正, 桐野 玄, 斎藤 洋子, 安達 恵利子, 増江 道哉, 酢谷 明人, 森尾 友宏, 高澤 啓, 鹿島田 健一: 臨床Tipsの集積から提唱する先天性高インスリン血症の新治療戦略 日本内分泌学会雑誌. 2023.10; 99 (2): 643. ( 医中誌 )

小笠原啓祐,水野朋子,神谷尚宏,平田航,田村友美恵,山内泰輔,鈴木智典,鹿島田彩子,水野裕貴,岡本健太郎,田中陽典,小林大輔,高木正稔,森尾友宏: 低ガンマグロブリン血症に対し免疫グロブリン療法を行っている乳児全身性ヒアリン症 日本小児科学会雑誌 . 2023.10; 127 (10): 1299-1305. ( 医中誌 )

林 祐子, 畠野 真帆, 金子 修也, 真保 麻実, 伊良部 仁, 阿久津 裕子, 清水 正樹, 森尾 友宏: 高安動脈炎を合併しトシリズマブが有効であった若年性サルコイドーシスの一例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2023.10; 32回 129. ( 医中誌 )

伊良部 仁, 畠野 真帆, 宮岡 双葉, 林 祐子, 金子 修也, 真保 麻実, 阿久津 裕子, 清水 正樹, 森 雅亮, 森尾 友宏: 慢性非化膿性骨髄炎に潰瘍性大腸炎、仙腸関節炎を合併した女児例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2023.10; 32回 119. ( 医中誌 )

真保 麻実, 宮岡 双葉, 金子 修也, 伊良部 仁, 阿久津 裕子, 森尾 友宏, 清水 正樹: 少関節炎型JIAとしてフォロー中に発熱・嘔吐発作を反復し、A20ハプロ不全症の診断に至った1例 日本免疫不全・自己炎症学会雑誌. 2023.10; 2 (2): 62. ( 医中誌 )

山崎 晋, 清水 正樹, 金子 修也, 伊良部 仁, 真保 麻実, 阿久津 裕子, 瀬川 裕子, 柿崎 潤, 宮本 尚幸, 井澤 和司, 八角 高裕, 森 雅亮, 森尾 友宏: バリシチニブが奏功したAicardi-Goutieres症候群7型の1例 日本免疫不全・自己炎症学会雑誌. 2023.10; 2 (2): 53. ( 医中誌 )

金兼弘和, 友政弾, 谷田けい: Monogenic IBDに対する造血細胞移植 臨床血液. 2023.09; 64 (9): 361-369.

金兼弘和: 成人における先天性免疫不全症の診察 臨床血液. 2023.08; 64 (８): 772-781.

金兼弘和: 原発性免疫不全症の最新知見 小児感染免疫. 2023.08; 35 (3): 246-257.

清水 正樹: 【腎・泌尿器疾患-血尿から移植まで】腎・泌尿器疾患診療の進歩　紫斑病性腎炎(IgA血管炎関連腎炎) 小児内科. 2023.07; 55 (7): 1141-1145. ( 医中誌 )

清水正樹: 【腎・泌尿器疾患-血尿から移植まで】腎・泌尿器疾患診療の進歩 紫斑病性腎炎(IgA血管炎関連腎炎) 小児内科. 2023.07; 55 (7): 1141-1145.

山野 春樹, 滝島 茂, 兒玉 昭彦, 東 夏未, 佐藤 薫, 佐藤 健, 松田 希, 石橋 奈保子, 菅原 祐之, 長谷川 毅: 低身長(-2.33SD)を契機に発見したGitelman症候群(GS)の1例 日本小児科学会雑誌. 2023.05; 127 (5): 748. ( 医中誌 )

佐藤 健, 田中 学, 兒玉 昭彦, 山野 春樹, 東 夏未, 布施 譲嗣, 佐藤 薫, 松田 希, 滝島 茂, 石橋 奈保子, 菅原 祐之, 長谷川 毅: 乳児期に発症し,バルプロ酸が著効した周期性嘔吐症候群の1例 日本小児科学会雑誌. 2023.05; 127 (5): 752. ( 医中誌 )

Itakura Takuji, Sasaki Hirokazu, Hosoya Tadashi, Yamaguchi Taiki, Mimori Erika, Saimon Yukino, Iwai Hideyuki, Umezawa Natsuka, Kawata Daisuke, Kimura Naoki, Kurata Morito, Shimizu Masaki, Yasuda Shinsuke: A novel gain-of-function missense variant in PLCG2 associated with autoinflammation and hypergammaglobulinaemia RHEUMATOLOGY. 2023.04; 62 (11): e319-e321. ( PubMed , DOI )

坂川 由里歌, 友田 昂宏, 森下 あおい, 井上 健斗, 岡野 翼, 山下 基, 神谷 尚宏, 水野 朋子, 磯田 健志, 柳町 昌克, 高木 正稔, 金兼 弘和, 今井 耕輔, 森尾 友宏: 造血細胞移植後に生じた選択的低IgG2血症の2例 日本小児科学会雑誌. 2023.04; 127 (4): 599-604. ( 医中誌 )

清水正樹: 小児の全身性エリテマトーデス 皮膚科. 2023.04; 3 (4): 483-489. ( 医中誌 )

清水正樹: 【小児の治療方針】リウマチ・膠原病 若年性特発性関節炎 小児科診療. 2023.04; 86(春増刊) 284-289.

坂川由里歌, 友田昴宏, 森下あおい, 井上健斗, 岡野翼, 山下基, 神谷尚宏, 水野朋子, 磯田健志, 栁町昌克, 高木正稔, 金兼弘和, 今井耕輔, 森尾友宏: 造血細胞移植後に生じた選択的低IgG2血症の2例 日本小児科学会雑誌. 2023.04; 127 (4): 599-604.

高澤 啓: 【小児の治療方針】内分泌　低血糖 小児科診療. 2023.04; 86 (春増刊): 605-607. ( 医中誌 )

清水正樹: 【これでよくわかる自己炎症性疾患】知っておきたい自己炎症性疾患　遺伝性自己炎症性疾患にみられるマクロファージ活性化症候群 小児科診療. 2023.03; 86 (3): 325-329. ( 医中誌 )

清水正樹: 【"思春期内科"-大人でも子どもでもない患者を診る】[Chapter 2]思春期に発症しうる疾患　若年性特発性関節炎 内科. 2023.03; 131 (3): 391-393. ( 医中誌 )

伊良部仁,真保麻実,金子修也,清水正樹,森尾友宏: 繰り返す口内炎を呈しBehcet病と鑑別を要した歯科金属アレルギーの1例 小児科. 2023.02; 64 (2): 188-192. ( DOI , 医中誌 )

大林三裕佳(春日井市民病院/皮膚科), 中村賢人, 古橋卓也, 岩月啓氏, 三宅智子, 平井陽至, 谷田けい, 金兼弘和, 西田徹也, 木村宏, 森田明理: CD8+αβT細胞優位型種痘様水疱症リンパ増殖異常症の1例 皮膚科の臨床. 2023.02; 65 (2): 273-278.

森有弥香, 山下基, 友政弾, 友田昂宏, 岡野翼, 満生紀子, 磯田健志, 神谷尚宏, 高木正稔, 今井耕輔, 金兼弘和, 森尾友宏: NEMO異常症に対する骨髄移植後の二次性生着不全に対する移植後シクロホスファミド法を用いたHLA半合致サルベージ骨髄移植 日本小児血液・がん学会雑誌. 2023.02; 59 (5): 420-425.

森 有弥香, 山下 基, 友政 弾, 友田 昂宏, 岡野 翼, 満生 紀子, 磯田 健志, 神谷 尚宏, 高木 正稔, 今井 耕輔, 金兼 弘和, 森尾 友宏: NEMO異常症に対する骨髄移植後の二次性生着不全に対する移植後シクロホスファミド法を用いたHLA半合致サルベージ骨髄移植 日本小児血液・がん学会雑誌. 2023.02; 59 (5): 420-425. ( 医中誌 )

吉野 明日香, 小笠原 啓祐, 鎌田 悠子, 山野 春樹, 池田 翔, 高井 詩織, 下山 輝義, 伊藤 一之, 水野 裕貴, 山口 洋平, 石井 卓, 杉江 学, 森丘 千夏子, 岡本 健太郎, 細川 奨, 小野 真, 畠井 芳穂, 森尾 友宏: 先天性嚢胞性肺疾患に一側肺動脈欠損を合併した新生児の一例 日本小児科学会雑誌. 2023.02; 127 (2): 332. ( 医中誌 )

山野 春樹, 中谷 久恵, 中川 竜一, 柿沼 晴, 長澤 まさゆき, 磯田 健志, 高澤 啓, 鹿島田 健一, 森尾 友宏: 幼児期の造血細胞移植後、思春期・若年成人期に生じた多発性炎症性肝細胞腺腫 日本内分泌学会雑誌. 2023.02; 98 (4): 900. ( 医中誌 )

清水正樹: 【分子標的薬を極める】膠原病・自己炎症症候群　関節炎　全身型JIA・成人発症スチル病 小児内科. 2023.02; 55 (2): 201-204. ( 医中誌 )

兒玉 昭彦, 佐藤 健, 山野 春樹, 東 夏未, 布施 譲嗣, 松田 希, 滝島 茂, 石橋 奈保子, 菅原 祐之, 長谷川 毅: 耳下腺炎の経過中に川崎病を発症した1歳男児例 埼玉県医学会雑誌. 2023.01; 57 (1): np27. ( 医中誌 )

山野 春樹, 松田 希, 水島 靖枝, 竹田 清香, 兒玉 昭彦, 東 夏未, 布施 譲嗣, 佐藤 薫, 佐藤 健, 滝島 茂, 石橋 奈保子, 菅原 祐之, 長谷川 毅: 間欠的な右季肋部痛を呈した多隔壁胆嚢の1例 埼玉県医学会雑誌. 2023.01; 57 (1): np29. ( 医中誌 )

清水正樹: 【小児COVID-19関連多系統炎症性症候群(MIS-C/PIMS)の診療】MIS-C/PIMSの診断 医学のあゆみ. 2023.01; 284 (4): 277-282. ( 医中誌 )

兒玉 昭彦, 佐藤 健, 山野 春樹, 東 夏未, 布施 譲嗣, 松田 希, 滝島 茂, 石橋 奈保子, 菅原 祐之, 長谷川 毅: 耳下腺炎の経過中に川崎病を発症した1歳男児の1例 埼玉県医学会雑誌. 2023.01; 57 (1): 163-169. ( 医中誌 )

山野 春樹, 松田 希, 水島 靖枝, 竹田 清香, 兒玉 昭彦, 東 夏未, 布施 譲嗣, 佐藤 薫, 佐藤 健, 滝島 茂, 石橋 奈保子, 菅原 祐之, 長谷川 毅: 間欠的な右季肋部痛を呈した多隔壁胆嚢の1例 埼玉県医学会雑誌. 2023.01; 57 (1): 174-178. ( 医中誌 )

金子 修也, 清水 正樹, 伊良部 仁, 真保 麻実, 山崎 晋, 森 雅亮: 色素性痒疹様皮疹を呈した全身型若年性特発性関節炎の1例 小児リウマチ. 2022.12; 13 (1): 54-58.

田中 里奈, 清水 正樹, 真保 麻実, 山崎 晋, 高澤 啓, 鹿島田 健一, 森尾 友宏, 森 雅亮: 橋本病を合併した混合性結合組織病の1例　hypothyroid myopathyの鑑別の重要性 小児リウマチ. 2022.12; 13 (1): 43-47.

田中 里奈, 清水 正樹, 真保 麻実, 山崎 晋, 高澤 啓, 鹿島田 健一, 森尾 友宏, 森 雅亮: 橋本病を合併した混合性結合組織病の1例　hypothyroid myopathyの鑑別の重要性 小児リウマチ. 2022.12; 13 (1): 43-47. ( 医中誌 )

金兼弘和, 高木正稔: 自己免疫性リンパ増殖症候群とRAS関連自己免疫性リンパ増殖症候群疾患 臨床免疫・アレルギー科. 2022.11; 78 (5): 599-610.

渡邉 浩太郎, 宇田川 智宏, 奥津 美夏, 真保 麻実, 阿久津 裕子, 山崎 晋, 森 雅亮, 田中 絵里子, 冨井 翔平, 三浦 健一郎, 服部 元史, 森尾 友宏: 混合性結合組織病の診断に先行した膜性腎症の1例 日本小児腎臓病学会雑誌. 2022.11; 35 (2): 117-123. ( 医中誌 )

真保 麻実, 宮岡 双葉, 金子 修也, 伊良部 仁, 阿久津 裕子, 森尾 友宏, 清水 正樹: 筋病理で免疫介在性壊死性ミオパチーを呈し、重度の筋力低下を来した抗Ku抗体陽性の筋炎-全身性強皮症オーバーラップ症候群の1例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2022.10; 31回 181. ( 医中誌 )

伊良部 仁, 宮岡 双葉, 金子 修也, 真保 麻実, 阿久津 裕子, 清水 正樹, 森尾 友宏, 森 雅亮: NSAIDs抵抗性の慢性非化膿性骨髄炎の女児例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2022.10; 31回 170. ( 医中誌 )

山野 春樹, 鹿島田 健一: 【小児科医が知っておくべき性の知識】各論:性分化疾患　性分化疾患の内科的治療 小児内科. 2022.10; 54 (10): 1701-1704. ( 医中誌 )

飯島茂子, 高山典子, 星野稔, 岩月啓氏, 三宅智子, 谷田けい, 金兼弘和: 耳介に水疱形成を繰り返す種痘様水疱症の成人例 2022.09; 64 (10): 1666-1670.

西村 聡, 岡野 翼, 成戸 卓也, 岡本 圭祐, 森下 あおい, 友田 昂宏, 真保 麻実, 阿久津 裕子, 井上 健斗, 山下 基, 遠藤 明史, 磯田 健志, 神谷 尚宏, 柳町 昌克, 梶原 道子, 今井 耕輔, 金兼 弘和, 森 雅亮, 森尾 友宏, 高木 正稔: 遺伝性骨髄不全症候群に生じるMDS　体細胞RUNX1変異を有する類天疱瘡様自己免疫疾患後にMDS/AMLを発症した1例 日本小児血液・がん学会雑誌. 2022.05; 59 (1): 66. ( 医中誌 )

横井 碧, 中村 蓉子, 石井 卓: 無熱性痙攣を契機に診断に至った血管輪の1例 日本農村医学会雑誌. 2022.05; 71 (1): 51-55. ( 医中誌 )

三重野孝太郎, 佐藤恭弘, 宮下英将, 飯塚雄俊, 金兼弘和, 田島剛: X連鎖無ガンマグロブリン血症の2例 小児内科. 2022.04; 54 (4): 681-685.

清水正樹: 【サイトカインストームと小児疾患】サイトカインストームが関与する疾患　新型コロナウイルス感染症(COVID-19) 小児科診療. 2022.04; 85 (4): 479-485. ( 医中誌 )

伊良部 仁, 清水 正樹, 森尾 友宏: 単一遺伝子異常による自己免疫疾患 臨床免疫・アレルギー科. 2022.04; 77 (4): 464-470. ( 医中誌 )

清水正樹: 【最新関節リウマチ学(第2版)-寛解・治癒を目指した研究と最新治療-】関節リウマチの検査・診断　診断　若年性特発性関節炎 日本臨床. 2022.04; 80 (増刊4 最新関節リウマチ学): 212-217. ( 医中誌 )

滝島 茂, 東 夏未, 山野 春樹, 松田 希, 鹿島田 健一, 長谷川 毅: COVID-19流行下に小児内分泌外来を紹介受診し,摂食障害(神経性やせ症)と診断した3例 日本内分泌学会雑誌. 2022.04; 98 (1): 397. ( 医中誌 )

金井保澄, 阿久津裕子, 毛利万里子, 清水正樹, 森尾友宏, 森雅亮: 関節炎症状に乏しく診断に苦慮した全身型若年性特発性関節炎の3例 日本小児科学会雑誌. 2022.04; 126 (4): 686-691. ( 医中誌 )

佐藤聡美, 瀧本哲也, 小阪嘉之, 佐藤篤, 湯坐有希, 康勝好, 角南勝介, 種山雄一, 堀壽成, 太田節雄, 松本公一, 多賀崇, 渡辺新, 滝田順子, 野村恵子, 金兼弘和, 陳基明, 早川晶, 福島敬, 加藤実穂, 大六一志: 小児急性リンパ性白血病患児におる認知機能の前方視的多施設協同研究 日本小児血液・がん学会雑誌. 2022.02; 58 (5): 424-431.

森田 俊平, 水野 朋子, 清水 一秀, 田村 友美恵, 鈴木 智典, 柳町 昌克, 磯田 健志, 高木 正稔, 稲次 基希, 前原 健寿, 森尾 友宏: 軽微な受傷機転から急性硬膜外血腫を発症し、Fanconi貧血の診断に至った1例 小児科臨床. 2022.02; 75 (1): 142-146. ( 医中誌 )

森田俊平, 水野朋子, 清水一秀, 田村友美恵, 鈴木智典, 柳町昌克, 磯田健志, 高木正稔, 稲次基希, 前原健寿, 森尾友宏: 軽微な受傷機転から急性硬膜外血腫を発症し、Fanconi貧血の診断に至った1例. 小児科臨床. 2022.02; 75 (1): 142-146.

佐藤 健, 奥村 伸生, 兒玉 昭彦, 山野 春樹, 東 夏未, 布施 譲嗣, 佐藤 薫, 松田 希, 滝島 茂, 石橋 奈保子, 菅原 祐之, 長谷川 毅: 偶然気付かれたフィブリノゲン低値を契機に診断された先天性フィブリノゲン機能異常症の1例 日本小児科学会雑誌. 2022.02; 126 (2): 423. ( 医中誌 )

真保 麻実, 金子 修也, 伊良部 仁, 阿久津 裕子, 清水 正樹, 森 雅亮, 森尾 友宏: 生物学的製剤治療中の全身型若年性特発性関節炎における腸恥滑液包炎 日本小児科学会雑誌. 2022.02; 126 (2): 283. ( 医中誌 )

清水正樹: 【COVID-19パンデミックとリウマチ性疾患】COVID-19パンデミック下における小児リウマチ性疾患のマネジメント リウマチ科. 2022.01; 67 (1): 23-31. ( 医中誌 )

金兼 弘和, 井上 健斗, 谷田 けい: 先天性免疫異常症における感染症治療と感染予防 日本免疫不全・自己炎症学会雑誌. 2022.01; 1 (1): 13-23.

阿久津 裕子: 【小児疾患診療のための病態生理2　改訂第6版】リウマチ性疾患とその周辺疾患　リウマチ熱、溶連菌感染後反応性関節炎 小児内科. 2021.12; 53 (増刊): 878-882. ( 医中誌 )

清水 正樹: 【小児疾患診療のための病態生理2　改訂第6版】リウマチ性疾患とその周辺疾患　全身性エリテマトーデス 小児内科. 2021.12; 53 (増刊): 892-899. ( 医中誌 )

清水 正樹: 【感染症と腎臓】感染関連腎炎　病原性大腸菌とHUS 腎臓内科. 2021.12; 14 (6): 699-705. ( 医中誌 )

宮本 智史: 【小児疾患診療のための病態生理2　改訂第6版】免疫不全　DNA損傷応答異常症　毛細血管拡張性運動失調症 小児内科. 2021.12; 53 (増刊): 710-715. ( 医中誌 )

水田 麻雄, 清水 正樹, 中岸 保夫: 小児リウマチ性疾患に伴うマクロファージ活性化症候群の疾患別サイトカインプロファイル リウマチ科. 2021.11; 66 (5): 504-511. ( 医中誌 )

Tomomasa Dan, Mitsuiki Noriko, Isoda Takeshi, Nishimura Akira, Endo Akifumi, Takagi Masatoshi, Kajiwara Michiko, Imai Kohsuke, Morio Tomohiro, Kanegane Hirokazu: Successful TCRABCD19-Depleted Hematopoietic Cell Transplantation for a Patient with Artemis Deficiency PEDIATRIC BLOOD & CANCER. 2021.11; 68

池田 翔, 石井 卓, 細川 奨, 野村 知弘, 長島 彩子, 渡邉 友博, 土井 庄三郎: Reactive Hyperemia-Peripheral Arterial Tonometry(RH-PAT)により血管内皮機能障害が示唆された冠攣縮性狭心症の10歳男児例 日本小児循環器学会雑誌. 2021.11; 37 (3): 220-226. ( 医中誌 )

森下 あおい, 磯田 健志, 山下 基, 高瀬 千尋, 山野 春樹, 友田 昂宏, 岡野 翼, 神谷 尚宏, 柳町 昌克, 遠藤 明史, 徳本 惇奈, 渡邊 友博, 渡部 誠一, 高木 正稔, 金兼 弘和, 今井 耕輔, 森尾 友宏: マルチプレックスPCRによる呼吸器病原体の観測が有用であった重症複合免疫不全症 日本小児科学会雑誌. 2021.10; 125 (10): 1458-1464. ( 医中誌 )

藪本佳奈子, 大曽根眞也, 今村俊彦, 岡本圭祐, 井澤和司, 金兼弘和, 牧野茂, 今宿晋作, 細井創: 類白血病反応を伴った高IgE症候群 日本小児科学会雑誌. 2021.10; 125 (10): 1445-1451.

森下あおい, 磯田健志, 山下基, 高瀬千尋, 山野春樹, 友田昴宏, 岡野翼, 神谷尚宏, 柳町昌克, 遠藤明史, 徳本淳奈, 渡邉友博 渡部誠一, 高木正稔, 金兼弘和, 今井耕輔, 森尾友宏: マルチプレックスPCRによる呼吸器病原体の観測が有用であった重症複合免疫不全症 日本小児科学会雑誌. 2021.10; 125 (10): 1458-1464.

澤田明久, 井上雅美, 野崎昌俊, 和田和子, 藤田宏, 光田信明, 今井耕輔, 位田忍 : 母体アザチオプリンによる二次性Bリンパ球減少症：新生児マススクリーニングで発見された1例 大阪母子医療センター雑誌. 2021.10; 37 (1): 45-48.

真保 麻実, 金子 修也, 伊良部 仁, 阿久津 裕子, 山崎 晋, 毛利 万里子, 清水 正樹, 森 雅亮: 若年性皮膚筋炎の皮膚症状に対してヒドロキシクロロキンが有効であった2例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2021.10; 30回 167. ( 医中誌 )

山崎 晋, 金子 修也, 伊良部 仁, 真保 麻実, 阿久津 裕子, 清水 正樹, 森 雅亮: 若年性脊椎関節炎の治療経過中にクローン病と骨髄異形成症候群を合併した1例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2021.10; 30回 150. ( 医中誌 )

船積 雅登, 加藤 恒平, 磯田 健志, 三浦 圭子, 並木 剛, 横関 博雄: 化学療法後に発症した小児のneutrophilic eccrine hidradenitisの1例 臨床皮膚科. 2021.10; 75 (11): 901-906. ( 医中誌 )

清水正樹: 小児科専門医を目指す人のためのQ&Aで読み解く　分野別誌上セミナー　「免疫」 小児科臨床. 2021.08; 74 (8): 1027-1032.

宮本智史, 金兼弘和: RINKETSU Dictionary　TRECs/KRECs 臨床血液. 2021.07; 62 (7): 869. ( 医中誌 )

鈴木 智典, 田村 友美恵, 真保 麻実, 阿久津 裕子, 宇田川 智宏, 細川 奨, 森 雅亮, 水野 朋子: 可逆性脳血管攣縮症候群の発症を契機に高安動脈炎の診断に至った1例 脳と発達. 2021.07; 53 (4): 307. ( 医中誌 )

金兼弘和, 谷田けい, 森尾友宏: 特集:移行期医療について考える II各論(移行期医療の現状と課題について) 7.免疫疾患(免疫不全症等) 小児科臨床. 2021.06; 74 (6): 683-686.

金兼弘和, 谷田けい: 血液内科医が注意すべき免疫異常・免疫不全 ー遺伝性リンパ増殖性疾患ー 血液内科. 2021.05; 82 (5): 629-635.

石井 卓, 土井 庄三郎: 【内科疾患の診断基準・病型分類・重症度】(第4章)循環器　成人先天性心疾患 内科. 2021.04; 127 (4): 701-704. ( 医中誌 )

家村綾子,柳町昌克,田崎彰久,廣田由佳,大西威一郎,神谷尚宏,津島文彦,原田浩之,木伊寿美,孝橋賢一,小田義直,高木正稔,明石巧,朝蔭孝宏,森尾友宏: 出生時から開口障害を認めたデスモイド型線維腫症 日本小児科学会雑誌. 2021.04; 125 (4): 619-624.

伊良部 仁, 修也, 井上 なつみ, 水田 麻雄, 上野 和之, 清水 正樹, 谷内江 昭宏: リツキシマブによる寛解導入療法が有効であったANCA関連腎炎の1例 日本小児腎臓病学会雑誌 . 2021.04; 34 (1): 39-44.

清水正樹: 浮腫の診かた・考え方 日本小児腎臓病学会雑誌 . 2021.04; 34 (1): 1-5.

神川 愛純, 清水 正樹, 坂井 勇太, 西田 圭吾, 伊川 泰広, 高桑 麻衣子, 藤田 修平, 畑崎 喜芳, 和田 泰三, 谷内江 昭宏: 川崎病に合併したマクロファージ活性化症候群の早期診断に対する臨床指標 日本小児科学会雑誌 . 2021.04; 125 (4): 638-644.

中村 蓉子, 石井 卓, 松村 雄, 渡邉 友博, 細川 奨, 渡部 誠一: 遠隔期に無症候性心筋梗塞を起こした川崎病性巨大冠動脈瘤の1例 心臓. 2021.03; 53 (3): 266-270. ( 医中誌 )

太田 未咲, 岡村 直樹, 萬 和馬, 鈴木 利理, 田渕 雄大, 坂下 智博, 杉田 真太朗, 高澤 啓: 卵巣甲状腺乳頭癌の1例 市立釧路総合病院医学雑誌. 2021.03; 33 (1): 59-62. ( 医中誌 )

友田昴宏, 金兼弘和, 森尾友宏: IPEXから知るFOXP3 消化器病学サイエンス. 2021.03; 5 (1): 44-47.

宇都宮 朱里, 栗栖 優佳, 中川 竜一, 高澤 啓, 鹿島田 健一: CYP21A2欠失とTNXB部分欠失を認め遺伝カウンセリングを行った21-水酸化酵素欠損症の男児例 日本マス・スクリーニング学会誌. 2021.02; 31 (3): 301-307. ( 医中誌 )

坂川 由里歌, 阿久津 裕子, 真保 麻実, 山崎 晋, 清水 正樹, 森尾 友宏, 森 雅亮: 川崎病性関節炎と全身型若年性特発性関節炎の鑑別に苦慮した一例 日本小児科学会雑誌. 2021.02; 125 (2): 337. ( 医中誌 )

清水 正樹, 真保 麻実, 阿久津 裕子, 山崎 晋, 山口 玲子, 瀬川 裕子, 森尾 友宏, 森 雅亮: 化膿性恥骨結合炎を合併した小児全身性エリテマトーデスの1例 日本小児科学会雑誌. 2021.02; 125 (2): 215. ( 医中誌 )

山崎 晋, 真保 麻実, 阿久津 裕子, 清水 正樹, 森尾 友宏, 森 雅亮: 多発性骨壊死を合併したXXX症候群の全身性エリテマトーデスの1例 日本小児科学会雑誌. 2021.02; 125 (2): 214. ( 医中誌 )

金兼弘和, 谷田けい: EBVに対する脆弱性を示す症候群 -X連鎖リンパ増殖症候群を含めて- 小児内科 増刊号 2021年増刊号 小児疾患診療のための病態生理2 改訂第6版. 2021.02; (53): 749-57.

井上健斗, 金兼弘和: 自然免疫系異常: ウイルスあるいは最近に対する脆弱性 小児内科 2021年増刊号 小児疾患診療のための病態生理2 改訂第6版. 2021.02; (53): 777-82.

花井 教史, 吉橋 知邦, 山下 匠, 田村 豪良, 大森 多恵, 阿久津 裕子, 山崎 晋, 三澤 正弘: 左膝関節腫脹を主訴に来院し、サルモネラ腸炎後の反応性関節炎と診断した1例 小児科臨床. 2021.01; 74 (1): 49-54. ( 医中誌 )

江口 詩織, 磯田 健志, 金田 朋也, 井上 健斗, 星野 顕宏, 森下 あおい, 山下 基, 滝島 茂, 柳町 昌克, 高木 正稔, 金兼 弘和, 今井 耕輔, 森尾 友宏: 原発性線毛機能不全症同胞例に対する高張食塩水吸入療法 日本小児科学会雑誌. 2021.01; 125 (1): 52-58. ( 医中誌 )

江口詩織, 磯田健志, 金田明也, 井上健斗, 星野顕宏, 森下あおい, 山下基, 滝島茂, 柳町昌克, 高木正稔, 金兼弘和, 今井耕輔, 森尾友宏: 原発性線毛機能不全症同胞例に対する高張食塩水吸入療法 日本小児科学会雑誌. 2021.01; 125 (1): 52-58.

阿久津 裕子: 【原発性免疫不全症候群-最新の疾患分類と新規疾患を中心に-】原発性免疫不全症候群を模倣する疾患　後天的な遺伝子変異(体細胞突然変異)による疾患　Cryopyrinopathy(Muckle-Wells/CINCA/NOMID-like syndrome) 日本臨床. 2020.12; 78 (増刊7 原発性免疫不全症候群): 527-529. ( 医中誌 )

友田昴宏, 金兼弘和, 森尾友宏: 【UC、CD以外の希少性難治性炎症性腸疾患を知る!】遺伝子変異をきたす超早期炎症性腸疾患 IBD Research. 2020.12; 14 (4): 261-267.

石井 卓, 土井 庄三郎: 【循環管理2021-'22-ガイドライン、スタンダード、論点そして私見-】病態生理を理解する　小児 救急・集中治療. 2020.12; 32 (4): 1041-1047. ( 医中誌 )

磯田 健志: 【原発性免疫不全症候群-最新の疾患分類と新規疾患を中心に-】抗体産生不全を主とする疾患　B細胞数正常か低下を伴い、少なくとも2種類の血清免疫グロブリンのアイソタイプの著明な低下を示すもの　IRF2BP2変異によるCVID 日本臨床. 2020.12; 78 (増刊7 原発性免疫不全症候群): 203-205. ( 医中誌 )

宮本 智史, 高木 正稔: 【原発性免疫不全症候群-最新の疾患分類と新規疾患を中心に-】原発性免疫不全症候群を模倣する疾患　後天的な自己抗体産生による疾患　低ガンマグロブリン血症を伴う胸腺腫(Good症候群) 日本臨床. 2020.12; 78 (増刊7 原発性免疫不全症候群): 534-537. ( 医中誌 )

宮本 智史, 金兼 弘和: 【原発性免疫不全症候群-最新の疾患分類と新規疾患を中心に-】抗体産生不全を主とする疾患　B細胞欠如あるいは著明な低下を伴い、全ての血清免疫グロブリンのアイソタイプの著明な低下を示すもの　E47転写因子欠損症 日本臨床. 2020.12; 78 (増刊7 原発性免疫不全症候群): 180-182. ( 医中誌 )

金兼弘和,木村菜美子, 小林弘美, 今井耕輔: 皮下注射免疫グロブリン製剤在宅自己注射治療導入の実際 小児科. 2020.12; 61 (13): 1774-1783.

宇佐美 雅章, 山崎 大輔, 伊良部 仁, 西田 圭吾, 越野 恵理, 清水 正樹, 谷内江 昭宏: Hirschsprung病類縁疾患の腸管切除術後にクローン病を合併した一例 日本小児栄養消化器肝臓学会雑誌. 2020.12; 34 (2): 82-87. ( 医中誌 )

髙木正稔: 小児血液腫瘍の視点から見た原発性免疫異常症 日本小児血液・がん学会雑誌. 2020.11; 57 (3): 257-263. ( DOI , 医中誌 )

原田瑞生, 久保暢大, 高地貴行, 岩渕晴子, 今村勝, 齋藤昭彦, 梅津哉, 山中崇之, 今井耕輔, 岡田賢, 今井千速 : ランゲルハンス細胞組織球症との鑑別を要した播種性BCG感染症を合併したIFN-γR1部分欠損症 2020.11; 57 (3): 309-313.

山野 春樹, 山下 基, 高瀬 千尋, 森下 あおい, 磯田 健志, 松本 惇奈, 渡邉 友博, 渡辺 誠一, 金兼 弘和, 今井 耕輔, 森尾 友宏: 迅速な医療連携により早期診断に至ったX連鎖重症複合免疫不全症の1例 日本小児科学会雑誌. 2020.11; 124 (11): 1674-1675. ( 医中誌 )

真保 麻実, 阿久津 裕子, 山崎 晋, 森 雅亮, 森尾 友宏: 良好な経過をとった間質性肺疾患(ILD)合併抗MDA-5抗体陽性若年性皮膚筋炎(JDM)の1例 日本小児科学会雑誌. 2020.11; 124 (11): 1672. ( 医中誌 )

神谷 尚宏, Wong Desmond, Png Yi Tian, Vinanica Natasha, Seow See Voon, Shimasaki Noriko, Coustan-Smith Elaine, Campana Dario: がんと免疫　PEBLs(タンパク発現阻害配列)による細胞表面タンパク発現抑制法を用いた新たながん免疫細胞療法 日本臨床免疫学会総会プログラム・抄録集. 2020.10; 48回 65. ( 医中誌 )

神谷 尚宏, 友政 弾, 友田 昂宏, 山下 基, 磯田 健志, 今井 耕輔, 金兼 弘和, 高木 正稔, 森尾 友宏: CAR-T細胞療法のreal worldでのアプローチ　CAR-T療法の実際　様々な状況下での経験を通して 日本小児血液・がん学会雑誌. 2020.10; 57 (4): 152. ( 医中誌 )

清水 正樹: 小児リウマチ性疾患 日本アフェレシス学会雑誌. 2020.10; 39 (3): 160-168. ( 医中誌 )

三村 卓矢, 清水 正樹, 谷内 裕輔, 松田 裕介, 谷内江 昭宏, 和田 泰三: 二度の肝生検で異なる病理像を呈したPSC-AIHオーバーラップ症候群の1例 小児科. 2020.10; 61 (11): 1565-1569. ( 医中誌 )

清水 正樹: 【難病研究の進歩】骨・関節　若年性特発性関節炎 生体の科学. 2020.10; 71 (5): 510-511. ( 医中誌 )

清水正樹: 小児リウマチ性疾患 日本アフェレシス学会雑誌. 2020.10; 39 (3): 160-168.

水野朋子: 【脳の感染症-脳炎と寄生虫】細菌性脳炎　マイコプラズマ脳炎(解説/特集) Clinical Neuroscience. 2020.10; 38 (10): 1238-1240.

中川竜一, 鹿島田健一, 高澤啓: 性腺分化機構の解析による人工配偶子作成および胎内発育障害の病態解明への試み 成長科学協会研究年報. 2020.10; (43): 135-136. ( 医中誌 )

高澤啓, 鹿島田健一, 酢谷明人, 中川竜一, 我有茉希: DNA損傷修復異常による成長障害の病態解明 成長科学協会研究年報. 2020.10; (43): 117-120. ( 医中誌 )

山崎 晋, 真保 麻実, 阿久津 裕子, 岡本 圭祐, 清水 正樹, 今井 耕輔, 森尾 友宏, 森 雅亮: カナキヌマブが著効し投与中止が可能となったTRAPSの一男児例 日本臨床免疫学会総会プログラム・抄録集. 2020.10; 48回 111. ( 医中誌 )

清水 正樹: 【川崎病-診断と治療の新展開】サイトカインプロファイル解析からみた川崎病の炎症病態 カレントテラピー. 2020.10; 38 (10): 961-966. ( 医中誌 )

今井耕輔: 【抗菌薬の「なぜ?」に答える】抗菌薬を開始する前に!患者さんに免疫不全はありませんか? 小児内科. 2020.10; 52 (10): 1313-1318. ( 医中誌 )

坂川 由里歌, 友田 昂宏, 森下 あおい, 井上 健斗, 岡野 翼, 山下 基, 神谷 尚宏, 水野 朋子, 磯田 健志, 柳町 昌克, 金兼 弘和, 高木 正稔, 今井 耕輔, 森尾 友宏: 骨髄移植後のIgG2選択的低値時に発症した侵襲性肺炎球菌感染症 日本小児科学会雑誌. 2020.09; 124 (9): 1425. ( 医中誌 )

田崎 優子, 横山 忠史, 金田 尚, 清水 正樹, 太田 和秀: 【PMX-DHPを再考する】小児敗血症に対するPMX-DHPをめぐって ICUとCCU. 2020.09; 44 (9): 567-573. ( 医中誌 )

渡邉 浩太郎, 宇田川 智宏, 奥津 美夏, 森 雅亮, 山崎 晋, 阿久津 裕子, 真保 麻実, 高瀬 千尋, 田中 絵里子, 三浦 健一郎, 服部 元史, 森尾 友宏: 学校検尿を契機に見つかったループス腎炎で混合性結合組織病の合併が考えられた1例 日本小児科学会雑誌. 2020.09; 124 (9): 1428-1429. ( 医中誌 )

堀本 佳彦, 朴 仁三, 嘉川 忠博, 上田 知実, 中本 祐樹, 稲毛 章郎, 吉敷 香菜子, 石井 卓, 高橋 幸宏, 安藤 誠, 和田 直樹: 新生児重症Ebstein病8例の臨床的検討 心臓. 2020.08; 52 (8): 882-889. ( 医中誌 )

齋藤 洋子, 高澤 啓, 岡野 翼, 神谷 尚宏, 今井 耕輔, 金兼 弘和, 森尾 友宏, 鹿島田 健一: 1型糖尿病を合併した活性化PI3K-δ症候群2型の一例 日本内分泌学会雑誌. 2020.08; 96 (1): 368. ( 医中誌 )

阿久津 裕子, 真保 麻実, 毛利 万里子, 山崎 晋, 森 雅亮: NXP-2抗体陽性若年性皮膚筋炎の4例 日本リウマチ学会総会・学術集会プログラム・抄録集. 2020.08; 64回 685. ( 医中誌 )

今井耕輔: 遺伝情報と遺伝カウンセリング　小児科領域別のポイント　免疫不全・自己炎症性疾患 小児内科. 2020.08; 52 (8): 1081-1086. ( 医中誌 )

伊良部 仁, 高桑 麻衣子, 井上 なつみ, 田崎 優子, 清水 正樹: ANCA陰性半月体形成性腎炎の1女児例 日本小児腎不全学会雑誌. 2020.07; 40 214-217. ( 医中誌 )

清水 正樹: 血漿交換代替療法としてのPlasma Dia-filtration 日本小児腎不全学会雑誌. 2020.07; 40 94-102. ( 医中誌 )

友田昂宏, 高木正稔: Shwachman-Diamond症候群におけるEFL1遺伝子変異 血液内科. 2020.06; 80 (6): 865-869. ( 医中誌 )

大原智子, 宮井健太郎, 谷田けい, 平石知佳, 福山希央, 田村英一郎, 河合利尚, 今井耕輔, 金兼弘和, 清原鋼二: リファンピシン投与に関連してマクロファージ活性化症候群を合併した慢性肉芽腫症 日本小児科学会雑誌. 2020.05; 124 (5): 838-844.

谷田けい, 金兼弘和: 血液・免疫性疾患　原発性免疫不全症 小児科臨床. 2020.05; 737-743.

前田 佳真, 野村 知弘, 下山 輝義, 長島 彩子, 山口 洋平, 石井 卓, 細川 奨, 大野 聖子, 土井 庄三郎, 泉田 直己: エピネフリン負荷にて房室ブロックを認めたQT延長症候群2型の1症例 心臓. 2020.05; 52 (5): 539-543. ( 医中誌 )

前田佳真, 野村知弘, 下山輝義, 長島彩子, 山口洋平, 石井卓, 細川奨, 大野聖子, 土井庄三郎, 泉田直己: エピネフリン負荷にて房室ブロックを認めたQT延長症候群2型の1症例 心臓. 2020.05; 52 (5): 539-543. ( 医中誌 )

加畑映理子, 作村直人, 山田恵子, 小西道雄, 金子修也, 藤木俊寛, 清水正樹, 谷内江昭宏: ネフローゼ症候群に対する免疫抑制療法中に発症した慢性好酸球性肺炎の1例 小児科臨床. 2020.04; 73 (4): 461-466.

小野 真太郎, 金兼 弘和, 柳町 昌克, 足洗 美穂, 田中 真理, 廣木 遥, 井上 健斗, 星野 顕宏, 神谷 尚宏, 満生 紀子, 磯田 健志, 高木 正稔, 今井 耕輔, 森尾 友宏: 当科で経験したXIAP欠損症関連炎症性腸疾患について 日本小児栄養消化器肝臓学会雑誌. 2020.04; 34 (1): 48-49. ( 医中誌 )

清水 正樹: 【症候・疾患からみる小児の検査】疾患からみる臨床検査の進めかた　マクロファージ活性化症候群が疑われるとき 小児科診療. 2020.04; 83 (増刊): 271-274. ( 医中誌 )

三村 卓矢, 竹田 義克, 藤田 直久, 城戸内 健介, 清水 正樹, 和田 泰三, 宇佐美 雅章: 口側進展時に非連続性病変を認めた潰瘍性大腸炎の1例 日本小児栄養消化器肝臓学会雑誌. 2020.04; 34 (1): 41. ( 医中誌 )

阿久津裕子, 森雅亮: 症候・疾患からみる小児の検査】疾患からみる臨床検査の進めかた　リウマチ性疾患が疑われるとき 小児科診療 (0386-9806)83巻増刊. 2020.04;

阿久津 裕子, 森 雅亮: 【症候・疾患からみる小児の検査】疾患からみる臨床検査の進めかた　リウマチ性疾患が疑われるとき 小児科診療. 2020.04; 83 (増刊): 385-392. ( 医中誌 )

永関 剛, 毛利 万里子, 清水 正樹, 森 雅亮: サイトメガロウイルス再活性化により全身型若年性特発性関節炎の増悪をきたした1歳児例 小児科診療. 2020.03; 83 (3): 407-410. ( 医中誌 )

Kusumoto Yasuka, Imai Kohsuke, Ohyama Yoshio, Fukayama Haruhisa, Shinozuka Osamu: Oral management of a patient with down syndrome and agammaglobulinemia: a case report BMC ORAL HEALTH. 2020.03; 20 (1): ( DOI )

高木正稔: 【自己免疫と血液疾患】自己免疫を呈するリンパ増殖症 臨床免疫・アレルギー科. 2020.03; 73 (3): 299-304.

満生紀子, 金兼弘和: CTLA-4ハプロ不全 臨床免疫・アレルギー科. 2020.03; 73 (3): 315-321.

今井耕輔: 変わりつつある免疫不全症　免疫不全症の診断　免疫不全症に対する新生児マススクリーニング 小児科診療. 2020.03; 83 (3): 321-327. ( 医中誌 )

今井耕輔: 日常診療に活かせるアレルギーの知識　獲得免疫 JOHNS. 2020.03; 36 (3): 285-288. ( 医中誌 )

友田 昂宏, 岡野 翼, 森下 あおい, 井上 健斗, 山下 基, 神谷 尚宏, 磯田 健志, 柳町 昌克, 高木 正稔, 金兼 弘和, 今井 耕輔, 森尾 友宏: 重症感染症を繰り返すも病識が欠如し管理に難渋している高IgE症候群の一例 日本小児科学会雑誌. 2020.02; 124 (2): 455. ( 医中誌 )

家村 綾子, 柳町 昌克, 神谷 尚宏, 高木 正稔, 森尾 友宏: 出生時から認めた開口障害を契機に診断に至ったデスモイド型線維腫症 日本小児科学会雑誌. 2020.02; 124 (2): 433. ( 医中誌 )

鈴木 智典, 神谷 尚宏, 山内 泰輔, 井上 健斗, 鹿島田 彩子, 東 賢良, 瀬川 裕子, 水野 朋子, 高木 正稔, 森尾 友宏: 低ガンマグロブリン血症を認めたInfantile systemic hyalinosisの一例 日本小児科学会雑誌. 2020.02; 124 (2): 406. ( 医中誌 )

森下 あおい, 山下 基, 磯田 健志, 友田 昂宏, 岡野 翼, 神谷 尚宏, 遠藤 明史, 柳町 昌克, 今井 耕輔, 金兼 弘和, 高木 正稔, 森尾 友宏: ALLの移植後再発に対し分子標的薬により寛解を得,PT-CY法で再移植した一例 日本小児科学会雑誌. 2020.02; 124 (2): 320. ( 医中誌 )

真保 麻実, 阿久津 裕子, 山崎 晋, 森 雅亮, 森尾 友宏: リウマトイド因子陽性多関節炎型若年性特発性関節炎を合併した歌舞伎症候群の1例 日本小児科学会雑誌. 2020.02; 124 (2): 349. ( 医中誌 )

眞柄達也, 高澤啓, 渡邉友博, 渡辺章充, 鹿島田健一, 渡部誠一: 臨床症状に乏しく肝腎機能障害を契機に診断された萎縮性甲状腺炎の小児例 茨城県厚生連病院学会雑誌. 2020.02; 32 63-68. ( 医中誌 )

西村 静華, 藤澤 麗子, 秋田 千里, 岡田 直樹, 清水 正樹, 犀川 太: 抗MDA5抗体陽性無筋症性皮膚筋炎の1例 日本小児科学会雑誌. 2020.02; 124 (2): 353. ( 医中誌 )

伊良部 仁, 井上 なつみ, 水田 麻雄, 清水 正樹: 病勢評価に18F FDG-PET/CTが有用であった高安動脈炎の女子例 小児リウマチ. 2020; 11 (1): 62-66. ( 医中誌 )

伊藤 佳史, 岡本 健太郎, 荻野 恵, 友田 昴, 井上 真依子, 磯田 健志, 今井 耕輔: 原発性免疫不全症の治療経過中に腸管気腫症をきたし保存的加療で軽快した2例 日本小児外科学会雑誌. 2019.12; 55 (7): 1220. ( 医中誌 )

Yoshida Masanori, Nakabayashi Kazuhiko, Sato Aiko, Tsujimoto Shinichi, Yoshida Kaoru, Shirai Ryota, Osumi Tomoo, Yuza Yuki, Takagi Masatoshi, Takahashi Hiroyuki, Koh Katsuyoshi, Kinoshita Akitoshi, Hino Moeko, Imamura Toshihiko, Nakazawa Yozo, Okuya Mayuko, Kakuda Harumi, Sanada Masashi, Matsumoto Kimikazu, Tomizawa Daisuke, Kiyokawa Nobutaka, Ohara Akira, Manabe Atsushi, Hata Kenichiro, Yang Jun, Kato Motohiro: NUDT15 Variants Confer High Incidence of Secondary Malignancies of ALL in Children PEDIATRIC BLOOD & CANCER. 2019.12; 66 S5-S6.

Miyamoto Satoshi, Takagi Masatoshi, Osawa Tsuyoshi, Shibuya Masabumi, Morio Tomohiro, Tsuchida Rika: BMP4 Suppresses the Tumor Growth of Neuroblastoma via MYCN Downregulation PEDIATRIC BLOOD & CANCER. 2019.12; 66 S84.

高澤 啓, 遠藤 高明: 患者による成長ホルモン製剤の注入器選択に関する医師を対象としたインターネット調査 Progress in Medicine. 2019.12; 39 (12): 1257-1266. ( 医中誌 )

清水 正樹: サイトカインプロファイル解析　何がわかるのか?どんな時にオーダーするのか? 日本小児腎臓病学会雑誌. 2019.11; 32 (2): 86-94. ( 医中誌 )

宮岡 双葉, 友田 昂宏, 山下 基, 磯田 健志, 井上 健斗, 神谷 尚宏, 柳町 昌克, 今井 耕輔, 高木 正稔, 金兼 弘和, 森尾 友宏: インフルエンザ感染症をきっかけに溶血発作を呈したグルコース-6-リン酸脱水素酵素(G6PD)欠損症の7歳男児 日本小児科学会雑誌. 2019.11; 123 (11): 1708. ( 医中誌 )

遠藤 明史, 今井 耕輔, 神谷 尚宏, 磯田 健志, 柳町 昌克, 高木 正稔, 金兼 弘和, 森尾 友宏, 平川 晃弘, 小池 竜司: 原発性免疫不全症データベース(PIDJ)を活用した希少疾患の臨床開発プラットフォームの構築 臨床薬理. 2019.11; 50 (Suppl.): S259. ( 医中誌 )

野村知弘, 石井卓, 山口洋平, 櫻井牧人, 前田佳真, 西口康介, 古谷智子, 近藤雅楽子, 大郷恵子, 土井庄三郎: 低出生体重、先天性心疾患と肺高血圧を有したDown症候群の1剖検例 心臓(0586-4488). 2019.11; 51 (11): 1167-1173. ( 医中誌 )

野村知弘, 石井卓, 山口洋平, 櫻井牧人, 前田佳真, 西口康介, 古谷智子, 近藤雅楽子, 大郷恵子, 土井庄三郎: 低出生体重、先天性心疾患と肺高血圧を有したDown症候群の1部検例 月刊「心臓」. 2019.11; 51 (11): 1167-1173.

野村 知弘, 石井 卓, 山口 洋平, 櫻井 牧人, 前田 佳真, 西口 康介, 古谷 智子, 近藤 雅楽子, 大郷 恵子, 土井 庄三郎: 低出生体重、先天性心疾患と肺高血圧を有したDown症候群の1剖検例 心臓. 2019.11; 51 (11): 1167-1173. ( 医中誌 )

久保田 知洋, 山崎 雄一, 西村 謙一, 中岸 保夫, 井上 なつみ, 清水 正樹, 水田 麻雄, 金子 詩子, 脇口 宏之, 橋本 邦生, 木澤 敏毅, 鈴木 一雄: 関節型JIA患者における生物学的製剤の中止状況　TeMPRA共同研究 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2019.10; 29回 93. ( 医中誌 )

坂川 由里歌, 友田 昂宏, 岡野 翼, 森下 あおい, 井上 健斗, 山下 基, 遠藤 明史, 磯田 健志, 神谷 尚宏, 柳町 昌克, 高木 正稔, 金兼 弘和, 今井 耕輔, 竹下 健一, 石和田 稔彦, 森尾 友宏: 骨髄移植後のIgG2選択的低値時に発症した侵襲性肺炎球菌感染症 日本小児血液・がん学会雑誌. 2019.10; 56 (4): 324. ( 医中誌 )

遠藤 明史, 今井 耕輔, 井上 健斗, 岡野 翼, 清水 則夫, 寺田 尚美, 森下 あおい, 友田 昂宏, 山下 基, 柳町 昌克, 磯田 健志, 神谷 尚宏, 高木 正稔, 金兼 弘和, 森尾 友宏: 免疫不全患者に対するマルチプレックスPCR法を用いた呼吸器感染症早期診断の臨床的有用性の検討 日本小児感染症学会総会・学術集会プログラム・抄録集. 2019.10; 51回 197. ( 医中誌 )

井上 健斗, 神谷 尚宏, 柳町 昌克, 今井 耕輔, 金兼 弘和, 高木 正稔, 森尾 友宏: Secondary antifungal prophylaxisが奏功した侵襲性肺アスペルギルス合併悪性リンパ腫の造血細胞移植例 日本医真菌学会雑誌. 2019.10; 60 (Suppl.1): 99. ( 医中誌 )

遠藤 明史, 今井 耕輔, 井上 健斗, 岡野 翼, 清水 則夫, 寺田 尚美, 森下 あおい, 友田 昂宏, 山下 基, 柳町 昌克, 磯田 健志, 神谷 尚宏, 高木 正稔, 金兼 弘和, 森尾 友宏: 免疫不全患者に対するマルチプレックスPCR法を用いた呼吸器感染症早期診断の臨床的有用性の検討 日本小児血液・がん学会雑誌. 2019.10; 56 (4): 327. ( 医中誌 )

井上 健斗, 神谷 尚宏, 井上 真依子, 星野 顕宏, 磯田 健志, 柳町 昌克, 今井 耕輔, 金兼 弘和, 高木 正稔, 森尾 友宏: ドナーリンパ球輸注により寛解導入及び1年間の寛解を維持できた再発性T細胞型急性リンパ性白血病症例 日本小児血液・がん学会雑誌. 2019.10; 56 (4): 275. ( 医中誌 )

松本 和明, 西村 聡, 井上 真依子, 井上 健斗, 廣木 遥, 小野 真太郎, 岡野 翼, 田中 真理, 足洗 美穂, 宮本 智史, 宮脇 零士, 山岸 千佳, 手束 真理, 大川 哲平, 星野 顕宏, 遠藤 明史, 神谷 尚宏, 青木 由貴, 満生 紀子, 小野 敏明, 柳町 昌克, 磯田 健志, 富澤 大輔, 長澤 正之, 梶原 道子, 高木 正稔, 金兼 弘和, 今井 耕輔, 森尾 友宏: Wiskott-Aldrich症候群における血小板輸血不応に対する各種治療薬の効果と安全性の検討 日本小児血液・がん学会雑誌. 2019.10; 56 (4): 281. ( 医中誌 )

花井 潤師, 田中 稔泰, 山田 雅文, 今井 耕輔: 自動核酸抽出機・TREC/KREC同時測定キットによるPIDスクリーニングの基礎検討 日本マス・スクリーニング学会誌. 2019.10; 29 (2): 219. ( 医中誌 )

今井 耕輔: 新規対象疾患のパイロット研究の現状と課題　TRECとKRECを用いた重症原発性免疫不全症に対する新生児スクリーニングの実現に向けて 日本マス・スクリーニング学会誌. 2019.10; 29 (2): 152. ( 医中誌 )

神谷 尚宏, ソウ・シブン , ピン・イータン , ビナニカ・ナターシャ , 森尾 友宏, カンパーナ・ダリオ : CAR-T細胞療法の基礎と臨床　次世代CAR免疫細胞療法の開発 日本小児血液・がん学会雑誌. 2019.10; 56 (4): 166. ( 医中誌 )

森下 あおい, 磯田 健志, 山下 基, 神谷 尚宏, 岡野 翼, 友田 昂宏, 遠藤 明史, 柳町 昌克, 今井 耕輔, 金兼 弘和, 高木 正稔, 森尾 友宏: B前駆細胞性急性リンパ性白血病の移植後再発に対して、GVHDの治療を行いながらBlinatumomabを使用した一例 日本小児血液・がん学会雑誌. 2019.10; 56 (4): 306. ( 医中誌 )

山崎 晋, 真保 麻実, 阿久津 裕子, 毛利 真里子, 森尾 友宏, 森 雅亮: 若年性特発性関節炎関連ぶどう膜炎に対してゴリムマブ治療を要した2例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2019.10; 29回 113. ( 医中誌 )

真保 麻実, 阿久津 裕子, 毛利 万里子, 山崎 晋, 山口 玲子, 高澤 啓, 鹿島田 健一, 瀬川 裕子, 森尾 友宏, 森 雅亮: 慢性の多関節痛を呈し若年性特発性関節炎と鑑別を要したムコリピドーシスIII型の14歳男児例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2019.10; 29回 135. ( 医中誌 )

宮岡 双葉, 阿久津 裕子, 真保 麻実, 山崎 晋, 毛利 万里子, 瀬川 裕子, 森 雅亮: 環軸椎回旋位固定をきたした頸椎関節炎に対して、トシリズマブとタクロリムスが奏功した全身型若年性特発性関節炎の一例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2019.10; 29回 113. ( 医中誌 )

山内 壮作, 木全 貴久, 辻 章志, 金子 修也, 清水 正樹, 谷内江 昭宏, 金子 一成: Angiopoietin産生異常を認めた特発性毛細血管漏出症候群(Clarkson症候群)の1乳児例 日本小児感染症学会総会・学術集会プログラム・抄録集. 2019.10; 51回 272. ( 医中誌 )

伊良部 仁, 井上 なつみ, 水田 麻雄, 清水 正樹: 病勢評価に18F-FDG PET/CTが有用であった高安動脈炎の1例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2019.10; 29回 121. ( 医中誌 )

清水 正樹: 若年性特発性関節炎の病態と新分類基準　全身型若年性特発性関節炎の病態と分類基準 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2019.10; 29回 46. ( 医中誌 )

清水 正樹: 若年性特発性関節炎　up to date 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2019.10; 29回 73. ( 医中誌 )

清水 正樹, 木澤 敏毅, 加藤 亮太, 鈴木 崇之, 谷内江 昭宏: 成人発症スティル病の母より出生し、新生児期にマクロファージ活性化症候群を発症した3症例の臨床的検討　IL-18モニタリングの重要性 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2019.10; 29回 94. ( 医中誌 )

中岸 保夫, 西村 明紘, 浜田 佳奈, 岡本 圭祐, 水田 麻雄, 本田 吉孝, 宮本 尚幸, 井澤 和司, 貝藤 裕史, 黒澤 寛史, 清水 正樹, 森貞 直哉, 八角 高裕, 西小森 隆太: I型インターフェロン症を疑う9歳の女児症例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2019.10; 29回 98. ( 医中誌 )

小塚 良, 山本 浩暉, 阿久津 裕子, 在原 美幸, 西崎 純: 多職種が協働をすることでデイケアにて最期まで本人と家族の思いに寄り添うことができた事例 日本作業療法学会抄録集. 2019.09; 53回 OJ-6. ( 医中誌 )

金井 保澄, 阿久津 裕子, 毛利 万里子, 今井 耕輔, 清水 正樹, 森尾 友宏, 森 雅亮: 関節炎のない全身型若年性特発性関節炎の診断 日本小児科学会雑誌. 2019.08; 123 (8): 1315. ( 医中誌 )

荒木智徳, 佐々木由香, 小野寺貴恵, 園田悠紀, 鳥谷直紀, 石飛俊介, 今道祥二, 高木正稔, 益谷美都子: PARPとPARGを標的とする抗がん剤のバイオマーカー BIO Clinica. 2019.08; 34 (9): 951-958. ( 医中誌 )

山内 壮作, 木全 貴久, 辻 章志, 清水 正樹, 金子 一成: Angiopoietin産生異常を認めた特発性毛細血管漏出症候群の1乳児例 日本腎臓学会誌. 2019.08; 61 (6): 880. ( 医中誌 )

金兼弘和,今井耕輔: 原発性免疫不全症候群-最近の話題5　原発性免疫不全症候群の診断と遺伝子解析ネットワーク 小児科. 2019.08; 60 (9): 1249-1256.

今井 耕輔: 原発性免疫不全症候群-最近の話題　原発性免疫不全症候群患者の移行期医療 小児科. 2019.08; 60 (9): 1273-1277. ( DOI , 医中誌 )

齋藤 洋子, 宮井 健太郎, 高澤 啓, 鹿島田 健一: Carbamazepine内服中に自然寛解したBasedow病の1例 小児科臨床. 2019.07; 72 (7): 845-848. ( 医中誌 )

磯田 健志: 非コードRNAの転写によるゲノムの核内区画転換とT細胞運命決定 東京都医師会雑誌. 2019.07; 72 (6): 488-491. ( 医中誌 )

齋藤洋子, 宮井健太郎, 高澤啓, 鹿島田健一: Carbamazepine内服中に自然寛解したBasedow病の1例 小児科臨床. 2019.07; 72 (7): 845-848. ( 医中誌 )

廣木遥, 高木正稔: SIFD症候群の分子病態 血液内科. 2019.06; 78 (6): 888-892. ( 医中誌 )

下山 輝義, 井上 真依子, 磯田 健志, 福岡 かほる, 堀越 裕歩, 山下 基, 松本 和明, 井上 健斗, 神谷 尚宏, 柳町 昌克, 高木 正稔, 金兼 弘和, 今井 耕輔, 森尾 友宏: サイトメガロウイルス喉頭炎を合併したWiskott-Aldrich症候群の乳児例 日本小児科学会雑誌. 2019.06; 123 (6): 1059. ( 医中誌 )

金兼弘和,星野顕宏: 遺伝性リンパ増殖性疾患 臨床血液. 2019.06; 60 (6): 708-715.

岡田賢司, 水野美穂子, 森内浩幸, 楠田聡, 森岡一朗, 森雅亮, 岡本圭祐, 岡田邦之, 吉原重美, 山岸敬幸, 横山詩子, 久保田知洋, 工藤寿子, 高木正稔, 伊藤秀一, 金森豊, 笹原洋二, 日本小児科学会予防接種・感染症対策委員会「日本におけるパリビズマブの使用に関するガイドライン」改訂検討ワーキンググループ, 日本小児科学会, 日本新生児成育医学会, 日本小児感染症学会, 日本小児呼吸器学会, 日本小児循環器学会, 日本小児リウマチ学会, 日本小児血液・がん学会, 日本小児腎臓病学会, 日本小児外科学会, 日本免疫不全・自己炎症学会: 日本におけるパリビズマブの使用に関するコンセンサスガイドライン 日本小児科学会雑誌. 2019.05; 123 (5): 807-813. ( 医中誌 )

宇佐美 雅章, 清水 正樹, 谷内 裕輔, 石川 さやか, 岩井 和之, 加藤 英治: 小児のYersinia enterocolitica感染症の臨床的検討 小児感染免疫. 2019.05; 31 (2): 111-118. ( 医中誌 )

福田 隆文, 伊川 泰広, 三村 卓矢, 中川 亮, 高倉 麻衣子, 山田 真平, 白橋 徹志郎, 清水 正樹, 岡島 道子, 谷内江 昭宏: 尿中マルベリー小体が診断に有用だったFabry病3例 日本小児科学会雑誌. 2019.05; 123 (5): 866-872. ( 医中誌 )

山内 壮作, 副島 和彦, 山岸 満, 寺嶋 駿輝, 見浪 実紀, 山口 正, 木全 貴久, 吉村 健, 辻 章志, 金子 修也, 清水 正樹, 谷内江 昭宏, 金子 一成: Angiopoietin産生異常を認めた特発性毛細血管漏出症候群(Clarkson症候群)の1乳児例 日本小児腎臓病学会雑誌. 2019.05; 32 (1Suppl.): 94. ( 医中誌 )

山宮 麻里, 竹村 悠太, 谷口 千尋, 神川 愛純, 小幡 美智, 横山 忠史, 宮下 健悟, 井上 巳香, 酒詰 忍, 太田 和秀, 伊良部 仁, 井上 なつみ, 清水 正樹: 当院小児科における最近10年間の腎生検151例の臨床病理学的検討 日本小児腎臓病学会雑誌. 2019.05; 32 (1Suppl.): 188. ( 医中誌 )

伊良部 仁, 清水 正樹, 井上 なつみ, 水田 麻雄, 谷内江 昭宏, 金田 尚, 太田 和秀, 野津 寛大: PLCE1遺伝子異常を認めた巣状分節性糸球体硬化症の日本人同胞例 日本小児腎臓病学会雑誌. 2019.04; 32 (1): 54-55. ( 医中誌 )

末永祐太,吉本優里,大熊喜彰,兼重昌夫,田中瑞恵,瓜生英子,山中純子,水上愛弓,五石圭司,佐藤典子,今井耕輔,金兼弘和,七野浩之: 血便を初発症状とし、若年性骨髄単球性白血病様所見を呈したWiskott-Aldrich 症候群 小児科. 2019.04; 60 (4): 417-421.

酢谷 明人, 高澤 啓, 山内 建, 井上 健斗, 神谷 尚宏, 金兼 弘和, 鹿島田 健一, 森尾 友宏: IPEX症候群に対する造血幹細胞移植は膵β細胞機能廃絶を予防しうる 日本内分泌学会雑誌. 2019.04; 95 (1): 383. ( 医中誌 )

宇佐美 雅章, 山崎 大輔, 伊良部 仁, 西田 圭吾, 越野 恵理, 清水 正樹, 谷内江 昭宏: Hirschsprung病類縁疾患の腸管切除術後に発症したクローン病の1例 日本小児栄養消化器肝臓学会雑誌. 2019.04; 33 (1): 48-49. ( 医中誌 )

金兼弘和: IPEX症候群 医学のあゆみ. 2019.03; 268 (13): 1223-1228.

伊良部 仁, 清水 正樹, 石川 さやか, 加藤 英治: 入院治療を要した小児細菌性腸炎の臨床的検討 小児科臨床. 2019.03; 72 (3): 265-270. ( 医中誌 )

森雅亮, 土井庄三郎, 石井卓, 前田佳真, 柳町昌克: 川崎病の早期診断および治療不応例における新規川崎病識別タンパクの有用性 心臓. 2019.03; 51 (3): 360-362. ( 医中誌 )

伊藤佳史,岡本健太郎, 水野裕貴, 荻野恵, 廣木遥, 今井耕輔, 森尾友宏: 【小児外科診療における合併症、偶発症-とっさの処置、その後の対応】中心静脈カテーテルによるフィブリンシース・血栓形成 小児外科. 2019.03; 51 (3): 225-229. ( 医中誌 )

西村 聡, 足洗 美穂, 神谷 尚宏, 山本 俊亮, 山本 薫, 友田 昂宏, 井上 真依子, 井上 健斗, 宮本 智史, 小野 林太郎, 平林 真介, 磯田 健志, 柳町 昌克, 細谷 要介, 長谷川 大輔, 今井 耕輔, 高木 正稔, 金兼 弘和, 真部 淳, 森尾 友宏: 腸管気腫を来した血液腫瘍性疾患・原発性免疫不全症の5例 日本小児科学会雑誌. 2019.02; 123 (2): 273. ( 医中誌 )

四手井 綱則, 岩田 はる香, 勝屋 恭子, 松本 和明, 山内 建, 青木 龍, 神谷 尚宏, 磯田 健志, 森丘 千夏子, 滝 敦子, 今井 耕輔, 森尾 友宏: DNA自動抽出法と定量PCRキットを用いた新生児免疫不全症スクリーニング法の検討 日本小児科学会雑誌. 2019.02; 123 (2): 302. ( 医中誌 )

大和玄季,金兼弘和: 【溶血性貧血up to date】自己免疫性溶血性貧血を発見の契機とする先天性免疫異常症 血液内科. 2019.02; 78 (2): 239-244. ( 医中誌 )

金子 修也, 清水 正樹, 西田 圭吾, 伊良部 仁, 越野 恵理, 水田 麻雄, 藤木 俊寛, 谷内江 昭宏: 溶連菌性筋膜炎の治療中に発症したアンピシリンによる急性汎発性発疹性膿疱症の1例 日本小児科学会雑誌. 2019.02; 123 (2): 324. ( 医中誌 )

清水 正樹: 免疫学のABC(第10回)　リンパ球抗原受容体の構成 分子リウマチ治療. 2019.01; 12 (1): 31-35. ( 医中誌 )

西村 聡, 星野 顕宏, 松本 和明, 小野 真太郎, 田中 真理, 石渡 泰芳, 安原 眞人, 足洗 美穂, 満生 紀子, 樋口 紘平, 井上 雅美, 宮村 能子, 橋井 佳子, 柳町 昌克, 磯田 健志, 梶原 道子, 高木 正稔, 水谷 修紀, 金兼 弘和, 今井 耕輔, 森尾 友宏: X連鎖高IgM症候群に対するフルダラビン・ブスルファンを用いた強度減弱前処置による造血細胞移植 日本造血細胞移植学会雑誌. 2019.01; 8 (1): 43-49. ( 医中誌 )

西村聡, 星野顕宏, 松本和明, 小野真太郎, 田中真理, 石渡泰芳, 安原眞人, 足洗美穂, 満生紀子, 樋口紘平, 井上雅美, 宮村能子, 橋井佳子, 柳町昌克, 磯田健志, 梶原道子, 高木正稔, 水谷修紀, 金兼弘和, 今井耕輔, 森尾友宏: X連鎖高IgM症候群に対するフルダラビン・ブスルファンを用いた強度減弱前処置による造血細胞移植 日本造血細胞移植学会雑誌 . 2019.01; 8 (1): 43-49. ( 医中誌 )

西村聡, 金兼弘和: 原発性免疫不全症に対する造血幹細胞移植 血液内科. 2019.01; 78 (1): 132-138.

金子 修也, 西田 圭吾, 伊良部 仁, 越野 恵理, 水田 麻雄, 藤木 俊寛, 清水 正樹, 谷内江 昭宏: 免疫性血小板減少性紫斑病を合併した川崎病の1例 小児リウマチ. 2019; 10 (1): 16-20. ( 医中誌 )

半谷まゆみ, 関正史, 三谷友一, 樋渡光輝, 岩崎美和, 木村敬子, 副島尭史, 佐藤伊織, 松本公一, 康勝好, 真部淳, 高木正稔, 藤村純也, 滝田順子: 小児科スタッフが中高生以上のがん患者と関わる上で抱えている課題に関する質問紙調査 日本小児血液・がん学会雑誌. 2019; 56 (5): 447-453. ( DOI )

佐藤 裕範, 山出 史也, 清水 正樹, 下条 直樹: 川崎病治療経過中にマクロファージ活性化症候群を来し、全身型若年性特発性関節炎の合併と推測した1例 小児リウマチ. 2019; 10 (1): 21-26. ( 医中誌 )

Hirokazu Kanegane, Akihiro Hoshino: [Inherited lymphoproliferative disorders]. Rinsho Ketsueki. 2019; 60 (6): 708-715. ( PubMed , DOI )

清水 正樹: マクロファージ活性化症候群 日本小児科学会雑誌. 2018.12; 122 (12): 1808-1817. ( 医中誌 )

高澤 啓, 山内 建, 井上 健斗, 神谷 尚宏, 金兼 弘和, 鹿島田 健一, 森尾 友宏: 造血幹細胞移植により膵β細胞機能の廃絶を回避しえたIPEX症候群例 日本内分泌学会雑誌. 2018.12; 94 (3): 854. ( 医中誌 )

清水 正樹: 【自己炎症性疾患-病態解明から診療体制の確立まで】病態解明・治療法確立にむけての新展開　全身型若年性特発性関節炎の病態と治療 医学のあゆみ. 2018.12; 267 (9): 718-722. ( 医中誌 )

金兼弘和, 星野顕宏, 高木正稔: 原発性免疫不全症と造血器腫瘍 臨床血液. 2018.12; 59 (11): 2459-2467. ( DOI )

星野顕宏, 山下基, 森尾友宏, 金兼弘和: Ikaros zinc finger protein family (IKZF) と自己免疫 臨床免疫・アレルギー科. 2018.12; 70 (6): 642-648.

井上 なつみ, 清水 正樹, 水田 麻雄, 谷内江 昭宏: 診断に苦慮した若年性脊椎関節炎の1例　炎症性腰痛の病歴聴取の重要性 小児科. 2018.12; 59 (13): 1933-1937. ( 医中誌 )

廣木遥, 高木正稔: 【小児疾患の診断治療基準】(第2部)疾患 生体防御・免疫不全 毛細血管拡張性運動失調症および類縁疾患 小児内科増刊. 2018.11; 50 244-245. ( 医中誌 )

高桑 麻衣子, 伊川 泰広, 清水 正樹: 【小児医療における診断・治療の進歩2018】診断技術　小児がん・膠原病のPET検査 小児科. 2018.11; 59 (12): 1649-1655. ( 医中誌 )

清水 正樹: 【小児疾患の診断治療基準】(第2部)疾患　アレルギー性疾患、自己免疫・リウマチ性疾患(膠原病)　マクロファージ活性化症候群 小児内科. 2018.11; 50 (増刊): 318-319. ( 医中誌 )

Lin Huan-Ting, Kubara Kenji, Yamazaki Kazuto, Takagi Masatoshi, Naruto Takuya, Morio Tomohiro, Okumura Takashi, Otsu Makoto: Enhanced Selective Inhibition of KRAS Mutant Hematopoietic Progenitor Cell Expansion By MEK and Bcl-2 Inhibition BLOOD. 2018.11; 132 ( DOI )

Miyamoto Satoshi, Naruto Takuya, Morio Tomohiro, Urayama Kevin, Manabe Atsushi, Takagi Masatoshi: TCF3 Inherited Variants in Children with B-cell Precursor Acute Lymphoblastic Leukemia PEDIATRIC BLOOD & CANCER. 2018.11; 65 S21.

石井 卓: 【小児科領域における医療の進歩】 小児心疾患に対する心臓カテーテル治療の進歩 東京小児科医会報. 2018.11; 37 (2): 36-40. ( 医中誌 )

毛利万里子,金森透,岡本圭祐,田中絵里子,今井耕輔,森尾友宏,岡本健太郎,森雅亮: MSH6遺伝子変異を伴い難治性腸管Behcet病を疑う超早期発症炎症性腸疾患(VEO-IBD)の1例 小児リウマチ. 2018.11; 9 (1): 65-69.

谷田けい,金兼弘和: 【小児疾患の診断治療基準】 (第2部)疾患　生体防御・免疫不全　分類不能型免疫不全症 小児内科. 2018.11; 50 252-253.

金兼弘和, 星野顕宏, 高木正稔: 【白血病の遺伝的素因-最新の知見-】原発性免疫不全症と造血器腫瘍 臨床血液. 2018.11; 59 (11): 2459-2467. ( 医中誌 )

木澤 敏毅, 謝花 幸祐, 井上 なつみ, 大倉 有加, 岡本 奈美, 久保田 知洋, 清水 正樹, 中岸 保夫, 西村 謙一, 水田 麻雄, 八代 将登, 八角 高裕, 安村 純子, 山出 晶子, 脇口 宏之, 梅林 宏明, 森 雅亮, 厚生労働科学研究費補助金(難治性疾患等政策研究事業(免疫アレルギー疾患等政策研究事業(免疫アレルギー疾患政策研究分野)))『小児期および成人移行期小児リウマチ患者の全国調査データの解析と両者の異同性に基づいた全国的「シームレス」診療ネットワーク構築による標準的治療の均てん化』JIA分担研究班: 若年性特発性関節炎に対するアバタセプト治療の手引き 小児リウマチ. 2018.11; 9 (1): 81-87. ( 医中誌 )

清水 正樹: 自然免疫と疾患病理　自然免疫と自己免疫性疾患 日本小児感染症学会総会・学術集会プログラム・抄録集. 2018.11; 50回 140. ( 医中誌 )

清水 正樹, 濱口 儒人, 谷内江 昭宏: 手指関節の疼痛、腫脹で発症した線状強皮症の1例 小児リウマチ. 2018.11; 9 (1): 76-80. ( 医中誌 )

水田 麻雄, 清水 正樹, 井上 なつみ, 作村 直人, 伊良部 仁, 高桑 麻衣子, 笠井 和子, 中岸 保夫, 谷内江 昭宏: 関節型若年性特発性関節炎における病態評価と病勢マーカーとしての血清sCD26、sCD30値の臨床的有用性 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2018.10; 28回 94. ( 医中誌 )

清水 正樹: 【川崎病アップデート〜病因・病態論の推移と展望〜】サイトカインプロファイル　サイトカインから他疾患と鑑別できるか アレルギー・免疫. 2018.10; 25 (11): 1436-1443. ( 医中誌 )

佐藤 裕範, 山出 史也, 清水 正樹, 下条 直樹: 川崎病治療中に、マクロファージ活性化症候群へ移行し全身型若年性特発性関節炎と診断した症例の鑑別にサイトカインプロファイルが有用であった一例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2018.10; 28回 97. ( 医中誌 )

瀬川 裕子, 森 雅亮, 毛利 万里子, 阿久津 裕子, 山口 玲子, 森尾 友宏, 大川 淳: 左股関節痛で発症しTNF阻害剤投与により症状改善が得られている強直性脊椎炎の1例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2018.10; 28回 115. ( 医中誌 )

阿久津 裕子, 毛利 万里子, 田中 絵里子, 森 雅亮: マクロファージ活性化症候群を発症した若年性皮膚筋炎の治療中に、血栓性微小血管症が疑われた2例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2018.10; 28回 123. ( 医中誌 )

清水 正樹, 井上 なつみ, 水田 麻雄, 金子 修也, 伊良部 仁, 谷内江 昭宏: 眼窩周囲浮腫で発症した若年性皮膚筋炎の一例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2018.10; 28回 79. ( 医中誌 )

岡本 奈美, 中岸 保夫, 西村 謙一, 清水 正樹, 大倉 有加, 安村 純子, 脇口 宏之, 謝花 幸祐, 水田 麻雄, 森 雅亮: 本邦小児における赤血球中ポリグルタミル化メトトレキサート濃度の有用性と至適用法用量の検討 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2018.10; 28回 92. ( 医中誌 )

金子 修也, 清水 正樹, 西田 圭吾, 越野 恵理, 伊良部 仁, 藤木 俊寛, 黒田 梨絵, 前馬 秀昭, 谷内江 昭宏: 特発性血小板減少性紫斑病を合併した川崎病の1例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2018.10; 28回 119. ( 医中誌 )

安村 純子, 清水 正樹, 小林 正夫, 谷内江 昭宏: 炎症性疾患の鑑別としてのTNF受容体関連周期性症候群における可溶性TNF受容体I/II比の臨床的有用性 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2018.10; 28回 86. ( 医中誌 )

久保田 知洋, 中岸 保夫, 岡本 奈美, 梅林 宏明, 岩田 直美, 大倉 有加, 清水 正樹, 村田 卓士, 謝花 幸祐, 西村 謙一, 水田 麻雄, 八代 将登, 八角 高裕, 安村 純子, 脇口 宏之, 森 雅亮: JIA患者におけるインフルエンザ罹患時の発熱期間と治療背景に関する検討 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2018.10; 28回 81. ( 医中誌 )

清水 正樹, 西田 圭吾, 井上 なつみ, 水田 麻雄, 谷内江 昭宏: 誘因なく凍瘡様皮疹を伴う難治性下肢疼痛を呈した複合性局所疼痛症候群の1例 小児科. 2018.09; 59 (10): 1487-1490. ( 医中誌 )

作村 直人, 井上 なつみ, 伊良部 仁, 水田 麻雄, 清水 正樹, 谷内江 昭宏: ステロイドパルス+リツキシマブ治療1ヵ月後に急性肺塞栓症を発症した腎移植後再発ネフローゼ症候群の1例 小児科臨床. 2018.09; 71 (9): 1497-1503. ( 医中誌 )

石井 卓, 嘉川 忠博, 矢崎 諭, 小林 匠, 吉敷 香菜子, 稲毛 章郎, 浜道 裕二, 上田 知実, 和田 直樹, 安藤 誠, 高橋 幸宏: 成人期にtotal cavopulomonary connectionによるFontan手術を施行した症例の中期成績と効果の検討 日本小児循環器学会雑誌. 2018.09; 34 (3): 143-152. ( 医中誌 )

毛利万里子, 森雅亮, 金兼弘和: 自己炎症性疾患におけるカナキヌマブの適応と有効性 リウマチ科. 2018.09; 60 (3): 309-314.

小泉 瑛子, 伊川 泰広, 西田 圭吾, 井上 なつみ, 酒井 清祥, 清水 正樹, 谷内江 昭宏: 著明な電解質異常を契機に診断に至った続発性偽性低アルドステロン症の1例 小児科臨床. 2018.09; 71 (9): 1511-1516. ( 医中誌 )

金兼弘和: 【免疫アレルギー領域における指定難病】 原発性免疫不全症候群 アレルギーの臨床. 2018.08; 38 (8): 745-748. ( 医中誌 )

伊良部 仁, 加畑 映理子, 山宮 麻里, 宮下 健悟, 井上 巳香, 前馬 秀昭, 酒詰 忍, 井上 なつみ, 清水 正樹, 太田 和秀: ネフローゼ症候群、腎機能低下で発見されたループス腎炎の1男児例　急性期の治療を考察する 日本小児腎不全学会雑誌. 2018.07; 38 193-196. ( 医中誌 )

入江 亘, 長谷川 大輔, 神谷 尚宏, 永瀬 恭子, 吉川 久美子, 関冨 晶子, 天野 こころ, 石井 里奈, 芹澤 裕子, 坂本 代喜江, 大野 尚子, 菅家 美和, 田村 妙子, 真部 淳, 石田 也寸志, 平田 美佳, 細谷 亮太: 小児病棟に入院する小児がんの子どもの生活に対する家族の意識調査 日本小児血液・がん学会雑誌. 2018.06; 55 (1): 7-14. ( 医中誌 )

清水 正樹: 【日常診療にひそむ小児リウマチ性疾患】小児リウマチ性疾患の診断と治療　全身型若年性特発性関節炎とマクロファージ活性化症候群 小児科診療. 2018.06; 81 (6): 777-782. ( 医中誌 )

本間あおい, 金兼弘和, 廣木遥, 岡野翼, 谷田けい, 今井耕輔, 高木正稔, 渡辺章光, 渡部誠一, 森尾友宏: IgAおよびIgGサブクラス欠損症としてフォローされていたICF症候群の姉妹例 日本小児科学会雑誌. 2018.06; 122 (6): 1036-1042.

山宮 麻里, 伊良部 仁, 横山 忠史, 井上 なつみ, 清水 正樹, 太田 和秀: 腎生検時にIV、α5鎖抗原検索をルーティンに行うメリット 日本小児腎臓病学会雑誌. 2018.05; 31 (1Suppl.): 185. ( 医中誌 )

小泉 瑛子, 伊川 泰広, 西田 圭吾, 井上 なつみ, 清水 正樹, 谷内江 昭宏, 酒井 清祥, 米谷 博: 血清Na109mEq/L、K9.0mEq/Lと著明な電解質異常を呈した続発性偽性低アルドステロン症の乳児例 日本小児科学会雑誌. 2018.05; 122 (5): 958. ( 医中誌 )

宮本 智史, 木村 俊介, 細谷 要介, 長谷川 大輔, 石田 悠志, 代田 惇朗, 松井 俊大, 吉本 優里, 平林 真介, 藤丸 拓也, 熊本 忠史, 森 慎一郎, 鈴木 高祐, 真部 淳: 腎生検にて確定診断に至った移植関連血栓性微小血管障害 臨床血液. 2018.04; 59 (4): 389-394. ( 医中誌 )

金兼弘和, 岡本圭佑, 星野顕弘: 抗体産生不全症の多様性 小児科. 2018.04; 59 (4): 407-416.

友田 昂宏, 三村 尚, 山内 泰輔, 阿久津 裕子, 中村 蓉子, 渡邉 友博, 南風原 明子, 渡辺 章充, 渡部 誠一: 急性増悪した気管支喘息に対する一酸化窒素吸入療法が有効性 日本小児救急医学会雑誌. 2018.04; 17 (2): 344. ( 医中誌 )

春谷勇平, 田村志宣, 小畑裕史, 大岩健洋, 山下友佑, 蒸野寿紀, 細井裕樹, 村田祥吾, 西川彰則, 今井耕輔, 森尾友宏, 園木孝志: 臍帯血移植が奏効した成人型分類不能型免疫不全症 臨床血液. 2018.04; 59 (3): 293-299.

清水 正樹, 三村 卓矢, 福田 隆文, 宇佐美 雅章, 作村 直人, 伊良部 仁, 高倉 麻衣子, 井上 なつみ, 田崎 優子, 水田 麻雄, 石川 さやか, 上野 和之, 横山 忠史, 谷内江 昭宏, 山宮 麻里, 太田 和秀, 金田 尚, 瀬野 晶子: 難治性ネフローゼ症候群に対するリツキシマブの有効性と今後の課題 日本小児科学会雑誌. 2018.03; 122 (3): 673. ( 医中誌 )

下山輝義, 高橋暁子, 高澤啓, 西岡正人, 下平雅之: 心肺蘇生後に、早期再分極を伴うQT短縮症候群と診断した14歳の一例 日本小児救急医学会雑誌. 2018.02; 17 (1): 116-119.

阿久津 裕子, 三村 尚, 宮原 宏幸, 渡辺 章充, 渡部 誠一: Late onset GBS sepsisから骨髄炎に至った1ヵ月児例 日本小児科学会雑誌. 2018.02; 122 (2): 485. ( 医中誌 )

下山 輝義, 高橋 暁子, 高澤 啓, 西岡 正人, 下平 雅之: 心肺蘇生後に、早期再分極を伴うQT短縮症候群と診断した14歳の一例 日本小児救急医学会雑誌. 2018.02; 17 (1): 116-119. ( 医中誌 )

福田 隆文, 伊川 泰広, 三村 卓矢, 中川 亮, 高倉 麻衣子, 山田 真平, 白橋 徹志郎, 清水 正樹, 岡島 道子, 谷内江 昭宏: Fabry病の鑑別に尿中マルベリー小体が有用であった3例 日本小児科学会雑誌. 2018.02; 122 (2): 237. ( 医中誌 )

岩脇史郎, 大和玄李, 芝徳生, 村松一洋, 川島淳, 小板橋実希子, 奥野はるな, 中舘尚也, 西村奈穂, 星野顕宏, 今井耕輔, 桑島信, 金兼弘和, 荒川浩一: 自己免疫性溶血性貧血を契機に診断されたCTLA-4異常症 日本小児科学会雑誌. 2018.01; 122 (1): 55-61.

田中真理, 岡野翼, 金兼弘和, 森尾友宏: 低ガンマグロブリン血症、樹状細胞欠損を伴った肺胞蛋白症は新規原発性免疫不全症である お茶の水医学雑誌. 2018.01; 66 (1): 35-42. ( 医中誌 )

金森透, 水野朋子, 長澤正之, 天野沙織, 足洗美穂, 岡田麻理, 恩田恵子, 今井雅子, 鈴木奈都子, 大柴晃洋: マイコプラズマ脳炎・脳症8例の臨床的検討 脳と発達. 2018.01; 50 50-54. ( 医中誌 )

井上 なつみ, 水田 麻雄, 清水 正樹, 谷内江 昭宏: 診断に苦慮した若年性脊椎関節炎の1例　炎症性腰痛の病歴聴取の重要性 日本小児科学会雑誌. 2018.01; 122 (1): 115. ( 医中誌 )

田中真理、岡野翼、金兼弘和、森尾友宏: 低ガンマグロブリン血症、樹状細胞欠損を伴った肺胞蛋白症は新規原発性免疫不全症である お茶の水醫學雑誌. 2018.01; 66 (1): 35-42. ( 医中誌 )

Miyamoto S, Kimura S, Hosoya Y, Hasegawa D, Ishida H, Daida A, Matsui T, Yoshimoto Y, Hirabayashi S, Fujimaru T, Kumamoto T, Mori SI, Suzuki K, Manabe A: [Transplantation-associated thrombotic microangiopathy confirmed by renal biopsy]. [Rinsho ketsueki] The Japanese journal of clinical hematology. 2018; 59 (4): 389-394. ( PubMed , DOI )

宮本智史, 木村俊介, 細谷要介, 長谷川大輔, 石田悠志, 代田惇朗, 松井俊大, 吉本優里, 平林真介, 藤丸拓也, 熊本忠史, 森慎一郎, 鈴木高祐, 真部淳: 腎生検にて確定診断に至った移植関連血栓性微小血管障害 臨床血液. 2018; 59 (4): 389-394.

阿久津 裕子, 櫻井 牧人, 渡辺 章充, 渡部 誠一: 小児喘息による急性呼吸不全に対し、NO吸入療法が著効した1例 茨城県厚生連病院学会雑誌. 2017.12; 30 22-25. ( 医中誌 )

金兼 弘和: Primary immunodeficiency diseases associaed with hematopoietic disorders:border between immunodeficiency and bone marrow failure 汎血球減少と原発性免疫不全症 日本小児血液・がん学会雑誌. 2017.12; 54 (3): 194-200. ( 医中誌 )

江本 留奈, 我有 茉希, 木口 智之, 竹田 清香, 松田 希, 高澤 玲子, 高澤 啓, 西岡 正人, 黒部 仁, 下平 雅之: 再発を繰り返しリンパ節生検で確定診断を行った菊池病の11歳男児例 埼玉県医学会雑誌. 2017.12; 52 (1): 263-268. ( 医中誌 )

谷口 千尋, 田口 律代, 津田 英夫, 野坂 和彦, 清水 正樹, 谷内江 昭宏: 重症筋無力症に少関節型若年性特発性関節炎を合併した女児例 小児科臨床. 2017.11; 70 (11): 1678-1682. ( 医中誌 )

清水 正樹: 【小児臨床検査のポイント2017】自己抗体検査　リウマチ性疾患に見いだされる疾患標識自己抗体　全身性エリテマトーデスの疾患標識抗体　抗dsDNA抗体、抗Sm抗体、抗リボゾームP抗体、抗NR2抗体 小児内科. 2017.11; 49 (増刊): 347-351. ( 医中誌 )

Takagi Masatoshi, Yoshida Misa, Nemoto Yoshino, Tamaichi Hiroyuki, Tsuchida Rika, Seki Masafumi, Uryu Kumiko, Nishii Rina, Miyamoto Satoshi, Saito Masahiro, Hanada Ryoji, Kaneko Hideo, Miyano Satoru, Kataoka Keisuke, Yoshida Kenichi, Ohira Miki, Hayashi Yasuhide, Nakagawara Akira, Ogawa Seishi, Mizutani Shuki, Takita Junko: Loss of DNA Damage Response in Neuroblastoma and Utility of a PARP Inhibitor JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2017.11; 109 (11): ( DOI )

谷田 けい, 金兼 弘和: 【小児臨床検査のポイント2017】 免疫・アレルギー検査　免疫グロブリン　IgG、IgGサブクラス、IgA、分泌型IgA、IgM、IgD 小児内科. 2017.11; 49 (増刊): 273-277. ( 医中誌 )

三村 卓矢, 馬瀬 新太郎, 清水 正樹, 藤木 俊寛, 黒田 梨絵, 荒木 来太, 伊川 泰広, 前馬 秀昭, 西村 良成, 谷内江 昭宏: 臍帯血移植後に膀胱炎症状を呈さず腎機能障害で発症したBKウイルス腎症の1例 日本小児腎臓病学会雑誌. 2017.11; 30 (2): 164-169. ( 医中誌 )

伊良部 仁, 作村 直人, 高倉 麻衣子, 井上 なつみ, 水田 麻雄, 清水 正樹, 谷内江 昭宏: 治療戦略に難渋する高安動脈炎の女児例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2017.10; 27回 124. ( 医中誌 )

清水 正樹, 井上 なつみ, 水田 麻雄, 濱口 儒人, 竹原 和彦, 谷内江 昭宏: 手指関節の疼痛、腫脹で発症した線状強皮症の一例 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2017.10; 27回 93. ( 医中誌 )

金兼弘和: 文献の検索など、いかに最新知識を取得するか 小児内科. 2017.09; 49 (9): 1399.

井上 なつみ, 清水 正樹: 【小児リウマチ性疾患の最近の知見】JIAの活動性評価と予後予測因子 リウマチ科. 2017.09; 58 (3): 253-260. ( 医中誌 )

高倉 麻衣子, 清水 正樹, 井上 なつみ, 水田 麻雄, 谷内江 昭宏: 多発性付着部炎の1例　小児リウマチ性疾患における付着部炎の評価の重要性 小児リウマチ. 2017.09; 8 (1): 3-9. ( 医中誌 )

金兼 弘和: 【診療の「コツ」を伝える-先輩からのアドバイス】 文献の検索など、いかに最新知識を取得するか 小児内科. 2017.09; 49 (9): 1399. ( 医中誌 )

平石 知佳, 菱山 富之, 高澤 啓, 西岡 正人, 下平 雅之, 川野 豊: 家族性地中海熱の二絨毛膜二羊膜双生児例 小児リウマチ. 2017.09; 8 (1): 39-45. ( 医中誌 )

平石知佳, 菱山富之, 高澤啓, 西岡正人, 下平雅之, 川野豊: 家族性地中海熱の二絨毛膜二羊膜双生児例 小児リウマチ. 2017.09; 8 (1): 39-45. ( 医中誌 )

高木香恵, 高木正稔: 全身性エリテマトーデス様症状を呈する原発性免疫不全症 炎症と免疫. 2017.09; 25 (5): 311-315.

伊良部 仁, 石川 さやか, 加藤 英治, 清水 正樹: 入院治療を要した細菌性腸炎小児症例の臨床的検討 日本小児科学会雑誌. 2017.08; 121 (8): 1471. ( 医中誌 )

阿久津 裕子, 高橋 孝治, 三村 尚, 白井 謙太朗, 南風原 明子, 渡辺 章充, 有坂 敦子, 佐々木 綾子, 早坂 清: 8歳時に肺炎に伴う換気不全から診断に至った先天性中枢性低換気症候群(CCHS)の1例 脳と発達. 2017.07; 49 (4): 287. ( 医中誌 )

阿久津 裕子, 東 裕哉, 永吉 有香子, 杉江 学, 近藤 乾, 今村 公俊: 摂食障害の母体から出生し、心電図変化を伴う低K血症を呈した新生児偽性Bartter症候群の1例 日本農村医学会雑誌. 2017.07; 66 (2): 153-158. ( 医中誌 )

金兼弘和, 今井耕輔, 森尾友宏: 重症複合免役不全症～その発見から今後の展望～ 日本臨床免役学会会誌. 2017.06; 40 (3): 145-154.

宮本 智史, 高木 正稔: 【免疫表現型に基づいたリンパ系腫瘍の理解】免疫表現型によるT-ALLの分類とその予後 血液内科. 2017.06; 74 (6): 747-753. ( 医中誌 )

金兼 弘和, 今井 耕輔, 森尾 友宏: 重症複合免疫不全症　その発見から今後の展望 日本臨床免疫学会会誌. 2017.06; 40 (3): 145-154.

高木 正稔, 緒方 昌平, 上野 浩生, 吉田 健一, 葉 姿ぶん, 朴 今花, 星野 顕宏, 山下 基, 南谷 真衣, 岡野 翼, 村松 秀樹, 奥野 友介, 白石 友一, 千葉 健一, 田中 洋子, 坂東 由紀, 林 泰秀, 宮野 悟, 今井 耕輔, 金兼 弘和, 小川 誠司, 小島 勢二, 森尾 友宏: ALPS責任分子TNFAIP3の同定 日本小児血液・がん学会雑誌. 2017.06; 54 (2): 169. ( 医中誌 )

武藤 由美, 阿久津 裕子, 笠木 実央子, 前澤 身江子, 中村 蓉子, 渡邉 友博, 白井 謙太朗, 南風原 明子, 山本 敦子, 渡辺 章充, 渡部 誠一: 手足口病発症後、急性腎炎症候群が疑われた不全型川崎病の1例 日本小児科学会雑誌. 2017.06; 121 (6): 1095. ( 医中誌 )

長崎啓祐, 窪田拓生, 小林弘典, 澤田浩武, 沼倉周彦, 原田正平, 高澤啓, 南谷幹史, 石井智弘, 岡田賢, 鎌崎穂高, 杉原茂孝, 安達昌功, 田島敏広, 日本小児内分泌学会マス・スクリーニング委員会: 先天性中枢性甲状腺機能低下症の診療状況の全国調査 日本マス・スクリーニング学会誌. 2017.06; 27 (1): 9-15.

高倉 麻衣子, 清水 正樹, 田崎 優子, 太田 和秀, 古市 賢吾, 和田 隆志, 谷内江 昭宏: Rescue therapyとして白血球除去療法が有効であったリツキシマブ不応ステロイド抵抗性ネフローゼ症候群の一例 日本小児腎臓病学会雑誌. 2017.05; 30 (1Suppl.): 204. ( 医中誌 )

長崎 啓祐, 窪田 拓生, 小林 弘典, 澤田 浩武, 沼倉 周彦, 原田 正平, 高澤 啓, 南谷 幹史, 石井 智弘, 岡田 賢, 鎌崎 穂高, 杉原 茂孝, 安達 昌功, 田島 敏広, 日本小児内分泌学会マス・スクリーニング委員会: 先天性中枢性甲状腺機能低下症の診療状況の全国調査 日本マス・スクリーニング学会誌. 2017.05; 27 (1): 9-15. ( 医中誌 )

阿久津 裕子, 渡邊 友博, 山田 均, 白井 謙太朗, 南風原 明子, 渡辺 章充, 渡部 誠一: 重症喘息発作から呼吸不全に至り、人工呼吸器管理下でコントロールに難渋し追加治療を要した2例 日本小児救急医学会雑誌. 2017.05; 16 (2): 304. ( 医中誌 )

渡邉 友博, 渡部 誠一, 阿久津 裕子, 白井 謙太郎, 南風原 明子, 渡辺 章充: 10年にわたり管理し得た慢性肺疾患の1例 日本小児救急医学会雑誌. 2017.05; 16 (2): 304. ( 医中誌 )

山口 洋平, 小宮 枝里子, 武井 陽, 笠木 実央子, 前田 佳真, 渡邉 友博, 梶川 優介, 細川 奨, 渡部 誠一, 森尾 友宏, 土井 庄三郎: Treprostinil持続皮下投与の導入と継続に成功した精神発達遅滞を有する小児特発性肺動脈性肺高血圧症例 日本小児循環器学会雑誌. 2017.05; 33 (3): 234-238. ( 医中誌 )

伊良部 仁, 清水 正樹, 井上 なつみ, 金田 尚, 太田 和秀, 谷内江 昭宏: 腸管出血性大腸菌感染症関連溶血性尿毒症症候群の重症化指標としての血清フェリチン値の臨床的有用性 日本小児腎臓病学会雑誌. 2017.05; 30 (1Suppl.): 119. ( 医中誌 )

清水 正樹, 高倉 麻衣子, 伊良部 仁, 作村 直人, 井上 なつみ, 田崎 優子, 石川 さやか, 上野 和之, 太田 和秀, 谷内江 昭宏: 脾機能低下症による血小板増多症関連腎炎の一例 日本小児腎臓病学会雑誌. 2017.05; 30 (1Suppl.): 105. ( 医中誌 )

太田 和秀, 田崎 優子, 酒井 清祥, 清水 正樹, 河野 美幸: 昼間遺尿を契機に発見された低形成腎における尿管異所開口の2女児例 日本小児腎臓病学会雑誌. 2017.05; 30 (1Suppl.): 192. ( 医中誌 )

山口(藤巻)明日香, 大坂渓, 田中(久保田)真理, 宮本智史, 満生紀子, 高木正稔, 今井耕輔, 窪田満, 金兼弘和, 森尾友宏: 無形成発作を契機に診断されたグルコース-6－リン酸脱水素酵素欠損症の日本男児 日本小児科学会雑誌. 2017.04; 121 (4): 724-728.

廣木 遥, 岡野 翼, 山下 基, 足洗 美穂, 宮本 智史, 小林 千佳, 青木 由貴, 高木 正稔, 今井 耕輔, 金兼 弘和, 森尾 友宏: Epstein-Barrウイルス関連血球貪食性リンパ組織球症にリツキシマブが奏功したX連鎖リンパ増殖症候群1型の一例 日本小児血液・がん学会雑誌. 2017.04; 54 (1): 25-29. ( 医中誌 )

金兼 弘和, 宮村 能子, 内山 徹: 【小児科ケースカンファレンス】 免疫異常、膠原病、リウマチ疾患、感染症　重症複合免疫不全症 小児科診療. 2017.04; 80 (増刊): 134-137. ( 医中誌 )

山口 明日香[藤巻], 大坂 渓, 田中 真理[久保田], 宮本 智史, 満生 紀子, 高木 正稔, 今井 耕輔, 窪田 満, 金兼 弘和, 森尾 友宏: 無形成発作を契機に診断されたグルコース-6-リン酸脱水素酵素欠損症の日本人男児 日本小児科学会雑誌. 2017.04; 121 (4): 724-728. ( 医中誌 )

高倉 麻衣子, 清水 正樹, 井上 なつみ, 田崎 優子, 金田 尚, 太田 和秀: EHEC関連HUSの重症化指標としての血清フェリチン値の臨床的有用性 日本腎臓学会誌. 2017.04; 59 (3): 226. ( 医中誌 )

廣木遥, 岡野翼, 山下基, 足洗美穂, 宮本智史, 小林千佳, 青木由貴, 高木正稔, 今井耕輔, 金兼弘和, 森尾友宏: Epstein-Barrウイルス関連血球貪食性リンパ組織球症にリツキシマブが奏功したX連鎖リンパ増殖症候群1型の一例 日本小児血液・がん学会雑誌. 2017.04; 54 (1): 25-29. ( 医中誌 )

宮本智史, 高木正稔: 免疫表現型によるT-ALLの分類とその予後 血液内科. 2017.04; 74 (4): 747-753.

清水 正樹: 微小変化型ネフローゼ症候群の研究と診療　その到達点と未来　微小変化型ネフローゼ症候群の治療　小児領域「再発抑制に向けた試み」 日本腎臓学会誌. 2017.04; 59 (3): 207. ( 医中誌 )

清水 正樹: 小児慢性腎臓病に対するトルバプタン治療 小児科. 2017.03; 58 (3): 265-271. ( 医中誌 )

金兼 弘和: 気道の難治性疾患治療におけるマクロライドの効果と限界 原発性免疫不全症 The Japanese Journal of Antibiotics. 2017.03; 70 (Suppl.A): 43-47. ( 医中誌 )

岡本 圭祐, 田中 絵里子, 多田 憲正, 岡本 健太郎, 清水 正樹, 森 雅亮, 森尾 友宏: 高サイトカイン血症を伴った肝障害の一例 日本小児科学会雑誌. 2017.02; 121 (2): 501. ( 医中誌 )

石井 卓: 【成人先天性心疾患と小児科医】 再手術の適応と成績 小児科. 2017.02; 58 (2): 121-128. ( 医中誌 )

清水 正樹, 三村 卓也, 馬瀬 新太郎, 藤木 俊寛, 黒田 梨絵, 荒木 来太, 伊川 泰広, 前馬 秀昭, 西村 良成, 谷内江 昭宏: 臍帯血造血幹細胞移植後に膀胱炎症状なく腎機能障害で発症したBKウイルス腎症の一例 日本小児科学会雑誌. 2017.02; 121 (2): 329. ( 医中誌 )

Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio: Severe combined immunodeficiency: From its discovery to the perspective. Nihon Rinsho Meneki Gakkai Kaishi. 2017; 40 (3): 145-154. ( PubMed , DOI )

足洗美穂, 金兼弘和, 今井耕輔, 木村菜美子, 陳菜穂, 岡野翼, 小野真太郎, 田中（久保田）真理, 宮本智史, 小林千佳, 満生紀子, 青木由貴, 田中絵里子, 高木正稔, 森尾友宏: 低または無ガンマグロブリン血症50例に対する皮下注用免疫グロブリン製剤導入. 日本小児科学会雑誌. 2016.12; 120 (12): 1772-1781. ( 医中誌 )

柳町昌克, 高木正稔: 小児の急性巨核芽球性白血病発症の分子生物学 血液内科. 2016.12; 73 762-767 .

友田昂宏, 満生紀子, 岡野　翼, 田中（久保田）真理, 宮本智史, 木村俊介, 高木正稔, 今井耕輔, 梶原道子, 金兼弘和, 森尾友宏: ロタウイルスワクチン株の持続排泄を認めた重症複合免疫不全症 日本小児科学会雑誌. 2016.11; (120): 1643-1648.

齊藤悠, 西田直徳, 野村恵子, 足立雄一, 金兼弘和: 急性骨髄性白血病(AML M0)に先行した骨髄肉腫の１例 日本小児血液・がん学会雑誌. 2016.10; (53): 300-304.

今井耕輔: B細胞シグナル伝達異常と原発性免疫不全症 炎症と免疫. 2016.10; 24 (6): 67-75.

高木正稔: 白血病発症の危険因子 家族血液腫瘍と遺伝的背景 白血病学 上　-最新の基礎, 臨牀研究- . 2016.10; 74巻増刊 (8): 80-86.

高澤 啓, 三村 尚, 西岡 正人, 鹿島田 健一, 下平 雅之: 低栄養に起因する膵石型膵性糖尿病をきたした重症心身障害児例 日本内分泌学会雑誌. 2016.07; 92 68-70. ( 医中誌 )

石井 卓, 嘉川 忠博, 矢崎 諭, 齋藤 美香, 稲毛 章郎, 浜道 裕二, 上田 知実, 和田 直樹, 安藤 誠, 高橋 幸宏, 朴 仁三: 当院におけるTCPC conversionの中期成績と効果の検討 日本小児循環器学会雑誌. 2016.07; 32 (4): 307-313.

高木正稔, 浦山ケビン: 小児急性リンパ性白血病発症に寄与する遺伝子多型 臨床血液. 2016.07; 57 (7): 891-899. ( DOI , 医中誌 )

岡本圭祐, 今井耕輔: 【血球の増加と減少】白血球　リンパ球減少症 小児内科. 2016.07; 48 (7): 974-978. ( 医中誌 )

萩原友紀, 高木正稔: 小児に特異的に生じる汎血球減少症 血液内科. 2016.06; 72 (6): 814-819. ( 医中誌 )

木脇祐子,手束真理,小林大輔,阿部志保,森尾友宏,今井耕輔,北川昌伸: パラインフルエンザウイルス3型(PIV3)感染を契機として肺胞蛋白症を発症した完全型DiGeorge症候群の1剖検例 病理と臨床. 2016.06; 34 (6): 631-636.

金兼弘和,高島健浩,今井耕輔: 原発性免疫不全症における診断のすすめ方 モダンメディア別冊. 2016.04; 62 (4): 130-137.

青木由貴, 高木正稔, 小野林太郎, 水谷修紀, 石川文彦: MLL転座型ヒト急性リンパ性白血病におけるleukemia initiating cellsの同定 血液内科. 2016.02; 72 231-235.

平本梨花,大曽根眞也,今村俊彦,石田宏之,高島健浩,今井耕輔,森尾友宏,細井創: 臍帯血移植にて救命し得た、サイトメガトウイルス感染症合併重症複合型免疫不全症の一例 日本小児血液・がん学会雑誌. 2016.02; 52 (5): 449-453.

萩原友紀, 高木正稔: Diamond Blackfan貧血および5q-症候群におけるリボゾームタンパク質の異常 血液内科. 2015.12; 71 (6): 693-698.

今井耕輔: 免疫グロブリンクラススイッチ症候群（高ＩｇＡ症候群 小児疾患診療のための病態生理2　改訂第5版. 2015.11; 47 (増刊): 713-717.

高木正稔: DNA損傷応答異常症（Ataxia Telangiectasiaを含めて) 小児疾患診療のための病態生理2　改訂5版 小児内科 2015 Vol.47 増刊号. 2015.11; 47 691-696.

今井耕輔: 免疫グロブリンクラススイッチ異常症（高IgM症候群） 小児内科. 2015.11; 47 713-717.

辻田 由喜,今井耕輔,野々山 恵章: PI3K異常症および類縁疾患 小児内科. 2015.11; 47 776-778.

高島 健浩,今井耕輔,森尾友宏: DiGeorge症候群 小児内科. 2015.11; 47 702-704.

高木正稔: リンパ腫発症の遺伝的素因 リンパ腫学 -最新の研究傾向-. 2015.10; 73巻増刊 (８): 80-84.

高木正稔: 遺伝性疾患と造血器腫瘍 臨床血液. 2015.10; 56 (10): 1969-1977. ( PubMed , DOI , 医中誌 )

高澤　啓, 鹿島田　健一: 卵巣発生において卵巣特異的転写因子FOXL2はWT1によるSf1の発現を抑制する 日本生殖内分泌学会雑誌. 2015.08; 20 47-51. ( 医中誌 )

今井耕輔: 原発性免疫不全症　原因探索法・診断法の進歩 2015.08; 22 (9): 1196-1207.

金兼弘和, 満生紀子: 【原発性免疫不全症候群　アップデート】 既知疾患(概念)と近年同定された疾患のトピックス　抗体産生不全症（分類不能型免疫不全症） アレルギー・免疫. 2015.08; 22 (9): 1214-1222. ( 医中誌 )

周産期救急の初期対応, 治療：投与時の注意点ならびに副作用, プロスタグランジン 周産期医学. 2015.07; 45 (7): 1002-1003.

高木正稔: 自己免疫性リンパ増殖症候群の診断と治療・予後 日本医事新報. 2015.04; 4746 60-61.

今井耕輔: ips細胞を用いた難病研究ー臨床病態解明と創薬に向けた研究の最新知見（第4章）血液・免疫疾患　原発性免疫不全症 遺伝子医学　MOOK. 2015.02; (27): 152-157.

桜井博毅, 太田英仁, 泊弘毅, 三浦浩樹, 松井俊大, 安江志保, 金兼弘和: どうして子どもは中耳炎になりやすいのか? 小児感染免疫. 2015.02; 26 (4): 503-506. ( 医中誌 )

金兼弘和: どうして子どもは中耳炎になりやすいのか? 小児感染免疫. 2015.02; 26 (4): 501-502. ( 医中誌 )

石村繭子, 金兼弘和: 【こどもの医療環境】 小児病棟プレイルームの事例　富山大学附属病院 医療福祉建築.. 2015.01; 252 (1): 10-11. ( 医中誌 )

森尾友宏,高島健浩,今井耕輔: 多パラメータ解析による免疫担当細胞亜群同定と機能解析 医学のあゆみ. 2015.01; 252 (1): 48-54. ( 医中誌 )

金兼　弘和: 原発性免疫不全症に合併する自己炎症性疾患～炎症性腸疾患をモデルとして～ 日本小児科学会雑誌. 2014.11; 118 (11): 1588-1594.

今井　耕輔: 見逃しやすい免疫不全　ピンポイント小児医療　免疫系overview　免疫不全症との対応を含めて 小児内科. 2014.10; 46 (10): 1454-1458.

本間 健一,今井 耕輔, 野々山 恵章: 見逃しやすい免疫不全 ピンポイント小児医療　これからの原発性免疫不全症の新生児マススクリーニングについて 小児内科. 2014.10; 46 (10): 1535-1538.

高島 健浩. 今井 耕輔,: 見逃しやすい免疫不全 ピンポイント小児医療 ヒト免疫担当細胞サブセット解析の標準化 小児内科. 2014.10; 46 (10): 1539-1544 .

高澤　啓, 辻　敦美, 鹿島田　健一: 持続血糖モニタリング(CGM)が診断・治療評価に有用であった高インスリン高アンモニア血症症候群(HIHA)の1例　低血糖症に対するCGMの応用 ホルモンと臨床. 2013.12; 61 (12): 915-920. ( 医中誌 )

石井 卓, 佐々木 章人, 梶川 優介, 清原 鋼二, 瀧聞 浄宏, 安河内 聰, 土井 庄三郎: 心臓再同期療法により左室機能が正常化した重症特発性拡張型心筋症の１歳男児例 日本小児循環器学会雑誌. 2013.11; 29 (６): 345-351.

本間 健一, 今井 耕輔, 金兼 弘和, 野々山 恵章: MonoMAC症候群(GATA2異常症) 臨床免疫・アレルギー科. 2013.10; 60 (4): 439-446.

今井 耕輔: 原発性免疫不全症の最新国際分類(2011) 小児科. 2013.10; 54 (11): 1491-1515.

今井 耕輔: 原発性免疫不全症における遺伝学的検査の取り扱いと諸問題について 日本小児血液・がん学会雑誌 . 2013.10; 50 (3): 415-417.

今井 耕輔: 【子どもの免疫Update】自然免疫について チャイルド ヘルス. 2013.09; 16 (9): 608-613.

石井 卓, 西山 光則, 佐々木 章人, 高橋 暁子, 山田 哲夫, 八巻 重雄, 土井 庄三郎: 生後早期より高度肺高血圧が持続し剖検により肺小動脈低形成, 肺血管の不正配列を認めた乳児例 心臓. 2013.07; 45 (7): 789-795.

今井 耕輔: 【原発性免疫不全症の診断と治療Update】新生児スクリーニングによる原発性免疫不全症の診断 小児科臨床. 2013.06; 66 (6): 1025-1032.

今井 耕輔: 【クローズアップ　新しい子どもの病気】免疫不全　新しい診断技術　TREC、KRECによる原発性免疫不全症のスクリーニング 小児内科. 2013.06; 45 (6): 1148-1151.

高木正稔, 今井耕輔, 森尾友宏, 水谷修紀: The Research Front Line of Immune Thrombocytopenia　原発性免疫不全症候群関連の免疫性血小板減少症 臨床血液. 2013.04; 54 (4): 357-364.

Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro, Mizutani Shuki: 原発性免疫不全症候群関連の免疫性血小板減少症 臨床血液. 2013.04; 54 (4): 357-364. ( PubMed )

今井 耕輔: 【知っておきたい最新の免疫不全症分類-診断から治療まで】疫学　PIDJと原発性免疫不全症の新生児スクリーニング 小児科診療. 2013.03; 76 (3): 367-375.

磯田 健志, 水谷 修紀: 【妊娠と血液疾患】血液腫瘍の胎児移行による乳児白血病リンパ腫の発症 血液内科. 2012.12; 65 (6): 808-812. ( 医中誌 )

今井 耕輔: 原発性免疫不全症の最新国際分類 臨床免疫・アレルギー科 . 2012.10; 58 (4): 446-466.

磯田 健志: Ataxia telangiectagiaにおけるT細胞発生障害の機序 臨床免疫・アレルギー科. 2012.10; 58 (4): 474-479. ( 医中誌 )

今井 耕輔: 原発性免疫不全症の遺伝子診断・治療 臨床血液. 2012.10; 53 (10): 1865-1873.

高澤 啓, 小野 真, 奥 起久子, 水谷 修紀: 出生時に著明な骨変化を認めた新生児続発性副甲状腺機能亢進症の1例 日本小児科学会誌. 2012.07; 116 (7): 1112-1117. ( 医中誌 )

今井 耕輔: 【知っておきたい内科症候群】膠原病・免疫・アレルギー《免疫不全症》　ウィスコット・アルドリッチ症候群 内科. 2012.06; 109 (6): 1501-1503.

高澤　啓, 鹿島田　健一: 3β水酸化ステロイド脱水素酵素異常 小児科臨床. 2012.05; 65 (5): 951-958. ( 医中誌 )

今井 耕輔: 臨床検査の意義と限界　T細胞・B細胞サブセット 小児内科. 2012.04; 44 (4): 645-648.

磯田 健志, 森尾 友宏, 水谷 修紀: 【母体と児の感染免疫-最新の知見】母体と児の免疫　新生児の免疫 臨床と微生物. 2011.11; 38 (6): 637-642. ( 医中誌 )

Mizuno T, Nakagawa E, Saito Y, Komaki H, Sugai K, Sasaki M, Otsuki T, Hasegawa T, Yamanouchi H, Kuramochi A: [A case of neurocutaneous melanosis associated with focal cortical dysplasia]. No to hattatsu = Brain and development. 2011.07; 43 (4): 300-3. ( PubMed )

水野朋子, 中川栄二, 斎藤義朗, 小牧宏文, 須貝研司, 佐々木征行, 大槻泰介, 長谷川毅, 山内秀雄, 倉持朗: 限局性皮質形成異常を合併した神経皮膚黒色症の1例 脳と発達. 2011.07; 43 (4): 300-303. ( 医中誌 )

山本 敦子, 水野 朋子, 荒木 聡, 満生 紀子, 青木 由貴, 磯田 健志, 高木 正稔, 長澤 正之, 水谷 修紀: 急性骨髄性白血病の治療中に大脳基底核炎を起こした1例 日本小児科学会雑誌. 2011.04; 115 (4): 804-809. ( 医中誌 )

今井 耕輔, 中川 紀子, 森西 洋一, 野々山 恵章: 【原発性免疫不全症の新展開】原発性免疫不全症のマススクリーニング 炎症と免疫1. 2011.04; 19 (3): 203-209.

磯田 健志, 水谷 修紀: リンパ球系　母体ALL細胞の胎児移行による乳児白血病の発症 Annual Review血液. 2011.01; 2011 147-151. ( 医中誌 )

吉田 裕輔, 西山 光則, 加藤 環, 石渡 隆寛, 山田 謙太郎, 今井 耕輔, 若松 太, 川名 明彦, 野々山 恵章: 【新型インフルエンザ　重症化からの脱却】小児におけるパンデミックインフルエンザA(H1N1)2009　気道感染の特徴と人工呼吸器管理例を含む治療経験 日本胸部臨床. 2010.12; 69 (12): 1103-1117.

吉田裕輔, 西山光則, 石渡隆寛, 今井耕輔, 若松太, 川名明彦, 野々山恵章: 人工呼吸管理例を含むパンデミックインフルエンザA(H1N1)2009肺炎3例の治療経験 日本小児科学会雑誌. 2010.01; 114 (1): 85-87.

今井 耕輔: 【小児科医のための思春期医学・医療】思春期へキャリーオーバーした疾患をもつ患者への対応　先天性免疫不全症 小児科. 2009.10; 50 (11): 1899-1909.

高木 正稔, 青木 由貴, 磯田 健志, 佐藤 隆介, 満生 紀子, 梶原 道子, 長澤 正之, 森尾 友宏, 李 慶徳, 山高 篤行, 森川 信行, 黒田 達夫, 水谷 修紀: 化学療法抵抗性を示したWilms腫瘍、favorable histology、ステージIVの1例 小児がん. 2009.09; 46 (3): 387-392. ( 医中誌 )

青木 由貴, 高木 正稔, 前田 佳真, 新井 洋美, 高橋 真弓, 柴田 聡子, 磯田 健志, 満生 紀子, 長澤 正之, 森尾 友宏, 安原 眞人, 水谷 修紀: 化学療法抵抗性を示したWilms腫瘍に対する薬物動態解析にもとづくトポテカン(ノギテカン)の投与経験 小児がん. 2009.09; 46 (3): 337-342. ( 医中誌 )

今井 耕輔: わが国の小児科医・研究者によって新たに提唱・発見された疾患、疾患概念、原因の究明された疾患　高IgM症候群(Uracil DNA glycosylase異常による) 小児内科. 2009.06; 41 (6): 942-949.

森西 洋一, 今井 耕輔: 【免疫不全症候群と遺伝子異常】免疫不全症の臨床検査　TRECs測定による重症複合免疫不全症のマススクリーニング 臨床検査. 2009.05; 53 (5): 553-559.

今井 耕輔, スジャータ・モハン , 小原 收: 免疫不全症候群と遺伝子異常】免疫不全症候群の遺伝子診断の中央化とデータベース 臨床検査. 2009.05; 53 (5): 533-540.

富澤 大輔, 今井 耕輔 : 【免疫不全症候群と遺伝子異常】各疾患の遺伝子異常,診断と治療　伴性高IgM症候群(CD40 ligand欠損症) 臨床検査. 2009.05; 53 (5): 575-579.

本間健一, 辻陽一郎, 今井耕輔, 子川和宏, , 野々山恵章: 骨髄非破壊的前処置にて血縁者間臍帯血移植を施行し、生着が得られた重症再生不良性貧血の1例 日本小児血液学会雑誌. 2009.02; 23 (1): 43-46.

今井 耕輔: 【ここまで分かっている免疫不全症候群】PIDJ(日本原発性免疫不全症データベース)プロジェクトについて 小児科臨床. 2008.09; 61 (9): 1811-1816.

野々山 恵章, 今井 耕輔: 【原発性免疫不全症候群】原発性免疫不全症候群の病因(遺伝子異常) アレルギー・免疫. 2008.09; 15 (10): 1304-1311.

今井 耕輔: 【原発性免疫不全症候群】いわゆる高IgM症候群(クラススイッチ障害) アレルギー・免疫. 2008.09; 15 (10): 1338-1349.

片桐（水野）朋子, 山本敦子, 白井謙太朗, 渡辺章充, 荒木聡: 二相性の経過をとり、けいれん再発直前のMRIが正常であったヒトヘルペスウイルス(HHV)6による急性脳症 脳と発達. 2007.11; 39 (6): 458-459. ( 医中誌 )

長澤 正之, 片桐 朋子, 保立 麻美子, 倉信 大, 青木 由貴, 磯田 健志, 佐々木 章人, 鹿島田 健一, 高木 正稔, 荒木 聡, 土井 庄三郎: 遷延する発熱の経過中にけいれんおよび意識障害を呈した9歳の女児 小児科臨床. 2007.11; 60 (11): 2091-2101. ( 医中誌 )

今井 耕輔, 黒崎 知博, 野々山 恵章: 【分子メカニズムから解き明かす疾患のサイエンス】免疫(アレルギー)疾患　B細胞の終末分化とその障害による原発性免疫不全症 実験医学. 2006.06; 24 (10): 1515-1524.

今井 耕輔: 【先天性免疫不全症の最近の話題】高IgM症候群と免疫グロブリンクラススイッチ障害 血液フロンティア. 2006.03; 16 (4): 541-557.

今井 耕輔: 【免疫2005】獲得免疫　UNG欠損による免疫グロブリンクラススイッチ障害 Molecular Medicine. 2004.12; 41 295-304.

今井 耕輔: 【免疫不全症　そこが知りたい】高IgM血症を伴う免疫不全症 小児内科. 2004.11; 36 (11): 1755-1761.

今井 耕輔: 【新しく知られた分子異常による免疫不全症】UNG遺伝子異常による高IgM症候群5型 臨床免疫. 2004.07; 42 (1): 1-10.

辻 陽一郎, 磯田 健志, 梶原 道子, 長澤 正之, 野々山 恵章, 水谷 修紀: 先天性血栓性血小板減少性紫斑病(Upshaw-Schulman症候群)の長期経過観察症例 日本小児血液学会雑誌. 2004.04; 18 (2): 84-89. ( 医中誌 )

磯田 健志: Wiskott-Aldrich症候群に対する造血幹細胞移植成績 小児科. 2004.02; 45 (2): 240-249. ( 医中誌 )

今井 耕輔: 【原発性免疫不全症とゲノム】原発性免疫不全症のゲノム医学　高IgM症候群とゲノム ゲノム医学. 2003.06; 3 (3): 299-304.

小松博史, 光藤伸人, 辻井久, 垣田静代, 生田治康, 川井伸, 今井耕輔, 野々山恵章: 脊髄髄膜瘤を合併したX連鎖血小板減少症の1例 日本小児科学会雑誌. 2002.12; 106 (12): 1905-1908.

磯田 健志: 【知っておきたい血液をめぐる知識】EDTA依存性偽性血小板減少症 小児科. 2002.12; 43 (13): 1985-1991. ( 医中誌 )

今井 耕輔: 【ここまでできるようになっている!新しい小児医療】自己免疫疾患に対する造血幹細胞移植療法の現状 小児科. 2002.10; 43 (11): 1671-1675.

石橋洋則, 下山武彦, 赤松秀樹, 砂盛誠, 大谷俊樹, 今井耕輔: 縦隔原発の巨大悪性胚細胞性腫瘍の1例 胸部外科. 2002.08; 55 (9): 815-818.

浅野貴子, 今井耕輔, 河本博, 元吉八重子, 亀井宏一, 小林克樹, 瀧本浩幸, 水沢慵一, 下田益弘, 水谷修紀: 早期の診断確定・治療開始によりRPGNを呈することなく緩解したP-ANCA陽性壊死性半月体形成性腎炎の1例 日本小児腎不全学会雑誌. 2001.08; 21 152-155.

板倉敬乃, 小川雄之亮, 今井耕輔, 野々山恵章: サイトメガロウイルス感染症を伴ったX連鎖血小板減少症の1例 小児感染免疫. 2000.12; 12 (4): 389-392.

今井 耕輔: WASPの異常と免疫不全症 免疫Immunology Frontier. 2000.10; 10 (5): 335-341.

瀧本浩幸, 今井耕輔, 浅野貴子, 亀井宏一, 小林克樹, 水沢慵一, 下田益弘, 竹田篤, 大川洋二, 矢田純一, 新村文男: 重症全身性エリテマトーデスに対する自己末梢血幹細胞移植時に急性腎不全を合併した1例 日本小児腎不全学会雑誌. 2000.08; 20 187-190.

今井 耕輔: 【期待される開発途上の診断法・治療法】自己免疫疾患に対する造血幹細胞移植療法 小児科. 1999.09; 40 (10): 1327-1331.

今井 耕輔: 【先天性免疫不全症の分子機構】WASP(Wiskott-Aldrich syndrome protein)の分子機構 医学のあゆみ. 1997.09; 182 (10): 731-735.

今井耕輔, 山本 貴子, 伊東 祐之, 吉田 邦枝, 前田 浩利, 梶原 道子, 高木 秀二, 大川 洋二, 平井 莞二, 矢田 純一: 骨髄移植後にEpstein-Barr virusに関連したlymphoproliferative disorderを発症したWiskott-Aldrich症候群の1例 日本小児血液学会雑誌. 1996.06; 10 (3): 210-215.

Kracker S, Imai K, Gardes P, Ochs HD, Fischer A, Durandy A: Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair Proc Natl Acad Sci U S A. 2010.12; 107 (51): 22225-22230. ( PubMed , DOI )

Morinishi Y, Imai K, Nakagawa N, Sato H, Horiuchi K, Ohtsuka Y, Kaneda Y, Taga T, Hisakawa H, Miyaji R, Endo M, Oh-Ishi T, Kamachi Y, Akahane K, Kobayashi C, Tsuchida M, Morio T, Sasahara Y, Kumaki S, Ishigaki K, Yoshida M, Urabe T, Kobayashi N, Okimoto Y, Reichenbach J, Hashii Y, Tsuji Y, Kogawa K, Yamaguchi S, Kanegane H, Miyawaki T, Yamada M, Ariga T, Nonoyama S: Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards J Pediatr. 2009.12; 155 (6): 829.

Imai K, Shimadzu M, Kubota T, Morio T, Matsunaga T, Park YD, Yoshioka A, Nonoyama S.: Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG Biochim Biophys Acta. 2006.03; 1762 (3): 335-340.

Imai K, Zhu Y, Revy P, Morio T, Mizutani S, Fischer A, Nonoyama S, Durandy A: Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2 Clin Immunol. 2005.06; 115 (3): 277-285.

Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, Yata J, Mizutani S, Ochs HD, Nonoyama S: Clinical course of patients with WASP gene mutations Blood. 2004.01; 103 (2): 456-464.

Imai K, Nonoyama S, Ochs HD.: WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype Curr Opin Allergy Clin Immunol.. 2003.12; 3 (6): 427-436.

Imai K, Slupphaug G, Lee WI, Revy P, Nonoyama S, Catalan N, Yel L, Forveille M, Kavli B, Krokan HE, Ochs HD, Fischer A, Durandy A. : Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination Nature Immunology. 2003.10; 4 (10): 1023-1028. ( PubMed , DOI )

Imai K, Catalan N, Plebani A, Marodi L, Sanal O, Kumaki S, Nagendran V, Wood P, Glastre C, Sarrot-Reynauld F, Hermine O, Forveille M, Revy P, Fischer A, Durandy A.: Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination J Clin Invest. 2003.07; 112 (1): 136-42.

Nadia Catalan, Kohsuke Imai, Patrick Revy, Alain Fischer, Anne Durandy: [Two years after, activation-induced cytidine deaminase has not revealed all of its secrets]. Med Sci (Paris). 2003.02; 19 (2): 139-141. ( PubMed , DOI )

Imai K, Nonoyama S, Miki H, Morio T, Fukami K, Zhu Q, Aruffo A, Ochs HD, Yata J, Takenawa T.: The pleckstrin homology domain of the Wiskott-Aldrich syndrome protein is involved in the organization of actin cytoskeleton. Clin Immunol. 1999.08; 92 (2): 128-137.