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Öner Özdemir, Ümmügülsüm Dikici, Murat Hakkı Yarar, Motoi Yamashita, Tomohiro Morio: A Rare AIOLOS N160S Variant Causing IEI in Human. J Clin Immunol. 2024.02; 44 (2): 57. ( PubMed , DOI )

Eriko Adachi, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, Maki Gau, Shizuka Kirino, Analia Yogi, Hisae Nakatani, Kei Takasawa, Tomomi Yamaguchi, Tomoki Kosho, Masanori Murakami, Toshihiro Tajima, Tomonobu Hasegawa, Tetsuya Yamada, Tomohiro Morio, Osamu Ohara, Kenichi Kashimada: A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2024.02; 109 (3): 750-760. ( PubMed , DOI )

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Masafumi Yamaguchi, Yukihiro Sera, Hanae Toga-Yamaguchi, Hirokazu Kanegane, Yusuke Iguchi, Kingo Fujimura: Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth. Int J Hematol. 2024.01; ( PubMed , DOI )

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Risa Konishi, Yuki Ichimura, Ryota Tanaka, Hanako Miyahara, Mari Okune, Masahide Miyamoto, Monami Hara, Atsushi Iwabuchi, Hidetoshi Takada, Yasuo Nakagishi, Mao Mizuta, Shuya Kaneko, Masaki Shimizu, Tomohiro Morio, Ichizo Nishino, Toshifumi Nomura, Naoko Okiyama: Possible correlation between serum interleukin-8 levels and the activity of myositis in anti-NXP2 antibody-positive dermatomyositis. Immunol Med. 2024.01; 1-6. ( PubMed , DOI )

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T Bryceson, Ingrid G Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E Covill, Ottavia M Delmonte, Loubna El Zein, Carlos Flores, Peter K Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M Alsohime, Hagit Baris-Feldman, Manish J Butte, Stefan N Constantinescu, Megan A Cooper, Clifton L Dalgard, Jacques Fellay, James R Heath, Yu-Lung Lau, Richard P Lifton, Tom Maniatis, Trine H Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, , , , , , , , , Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D Notarangelo, Stephanie Boisson-Dupuis, Helen C Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat: Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome Med. 2024.01; 16 (1): 6. ( PubMed , DOI )

Masatoshi Takagi, Chihiro Tomoyasu, Junko Yamanaka, Takayuki Hamabata, Takeshi Isoda, Takako Miyamura, Kohsuke Imai: Immunological assessment of a patient with infant acute lymphoblastic leukemia. Pediatr Int. 2024.01; 66 (1): e15738. ( PubMed , DOI )

Baba H, Kimura N, Kanegane H, Miya F, Kosaki K, Morio T, Koike R: GATA2 deficiency of a novel missense variant with multiorgan inflammation. Rheumatology (Oxford, England). 2024.01; ( PubMed , DOI )

Shogo Wada, Takeshi Namiki, Aoi Ebata, Takuya Takeichi, Masashi Akiyama, Masafumi Yamada, Atsushi Hijikata, Yutaka Shimomura, Hirokazu Kanegane, Naoko Okiyama: Generalized pustular psoriasis that developed in a patient with an NFKB2 variant. J Dtsch Dermatol Ges. 2024.01; 22 (1): 118-120. ( PubMed , DOI )

Shuya Kaneko, Yusuke Noguchi, Maho Hatano, Asami Shimbo, Hitoshi Irabu, Kenji Furuno, Naomi Iwata, Junya Fujimura, Keiji Akamine, Anna Kobayashi, Takuya Endo, Tomohiro Morio, Masaki Shimizu: Clinical usefulness of T-Cell Receptor Vβ Repertoire analysis for differentiating multisystem inflammatory syndrome in Japanese children from Toxic Shock Syndrome and Kawasaki Disease. Pediatr Infect Dis J. 2023.12; ( PubMed , DOI )

Kunihiko Moriya, Kanako Mitsui-Sekinaka, Yujin Sekinaka, Akifumi Endo, Hirokazu Kanegane, Tomohiro Morio, Kohsuke Imai, Shigeaki Nonoyama: Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan. Immunol Med. 2023.12; 46 (4): 153-157. ( PubMed , DOI )

Takuro Nishikawa, Takahiro Tomoda, Aki Nakamura, Jun Nagahama, Akihito Tanaka, Shuji Kanmura, Mari Kirishima, Akihide Tanimoto, Tsubasa Okano, Takahiro Kamiya, Kentaro Okamoto, Susumu Kirimura, Tomohiro Morio, Yasuhiro Okamoto, Hirokazu Kanegane: Case Report: The leopard sign as a potential characteristic of chronic granulomatous disease-associated colitis, unrelated to colitis severity. Front Immunol. 2023.12; 14 1208590. ( PubMed , DOI )

Holm H Uhlig, Claire Booth, Judy Cho, Marla Dubinsky, Anne M Griffiths, Bodo Grimbacher, Sophie Hambleton, Ying Huang, Kelsey Jones, Jochen Kammermeier, Hirokazu Kanegane, Sibylle Koletzko, Daniel Kotlarz, Christoph Klein, Michael J Lenardo, Bernice Lo, Dermot P B McGovern, Ahmet Özen, Lissy de Ridder, Frank Ruemmele, Dror S Shouval, Scott B Snapper, Simon P Travis, Dan Turner, David C Wilson, Aleixo M Muise: Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards. Nat Rev Gastroenterol Hepatol. 2023.12; 20 (12): 810-828. ( PubMed , DOI )

Aidé Tamara Staines-Boone, Pandiarajan Vignesh, Miyuki Tsumura, Germán de la Garza Fernández, Reva Tyagi, Amit Rawat, Jhumki Das, Dan Tomomasa, Takaki Asano, Atsushi Hijikata, Yuridia Salazar-Gálvez, Hirokazu Kanegane, Satoshi Okada, Saul O Lugo Reyes: Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function. J Clin Immunol. 2023.12; 44 (1): 20. ( PubMed , DOI )

Saki Kanda, Asami Shimbo, Yoshitaka Nakamura, Ryosuke Matsuno, Shuya Kaneko, Hitoshi Irabu, Kazunari Kaneko, Masaki Shimizu: Anti-Ku antibody-positive systemic sclerosis and idiopathic inflammatory myopathies overlap syndrome in children: a report of two cases and a review of the literature. Clin Rheumatol. 2023.12; 42 (12): 3411-3417. ( PubMed , DOI )

Yamashita M, Tomoda T, Mizuo A, Isoda T, Egawa M, Yoshida M, Toki T, Kudo K, Terui K, Ito E, Morio T, Takagi M: Transient erythroblastopenia due to a GATA1 variant in an infant female. Pediatric blood & cancer. 2023.12; e30834. ( PubMed , DOI )

Akira Nishimura, Kazuaki Yokoyama, Takuya Naruto, Chika Yamagishi, Toshihiko Imamura, Hiroto Nakazono, Shunsuke Kimura, Mieko Ito, Maiko Sagisaka, Yukie Tanaka, Jinhua Piao, Yui Namikawa, Masakatsu Yanagimachi, Takeshi Isoda, Akinori Kanai, Hirotaka Matsui, Tomoya Isobe, Aiko Sato-Otsubo, Naoko Higuchi, Akiko Takada, Haruna Okuno, Shoji Saito, Shuhei Karakawa, Shogo Kobayashi, Daisuke Hasegawa, Hiroyuki Fujisaki, Daiichiro Hasegawa, Kazutoshi Koike, Takashi Koike, Shinya Rai, Katsutsugu Umeda, Hideki Sano, Yujin Sekinaka, Atsushi Ogawa, Akitoshi Kinoshita, Norio Shiba, Mizuka Miki, Fumihiko Kimura, Hideki Nakayama, Yozo Nakazawa, Takashi Taga, Tomohiko Taki, Souichi Adachi, Atsushi Manabe, Katsuyoshi Koh, Yasushi Ishida, Junko Takita, Fumihiko Ishikawa, Hiroaki Goto, Tomohiro Morio, Shuki Mizutani, Arinobu Tojo, Masatoshi Takagi: Myeloid/natural killer (NK) cell precursor acute leukemia as a distinct leukemia type. Sci Adv. 2023.12; 9 (50): eadj4407. ( PubMed , DOI )

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 )

Keisuke Ogasawara, Makoto Ono, Keita Tamanuki, Ryosuke Wakatsuki, Kento Inoue, Yoshinori Tateishi, Rentaro Oda, Shogo Shirane, Hiraku Funakoshi, Hirokazu Kanegane, Yoshiho Hatai: Respiratory Symptoms are the First Presentation of Liver Abscess. Pediatr Infect Dis J. 2023.11; ( 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 )

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 )

Analia Yogi, Kenichi Kashimada: Current and future perspectives on clinical management of classic 21-hydroxylase deficiency. Endocr J. 2023.10; 70 (10): 945-957. ( PubMed , DOI )

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 )

Salim Ferrani, Thierry Prazuck, Stéphane Béchet, Fabien Lesne, Robert Cohen, Corinne Levy: Diagnostic accuracy of a rapid antigen triple test (SARS-CoV-2, respiratory syncytial virus, and influenza) using anterior nasal swabs versus multiplex RT-PCR in children in an emergency department. Infect Dis Now. 2023.10; 53 (7): 104769. ( 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 )

Jae-Seung Moon, Chun-Chang Ho, Jong-Hyun Park, Kyungsoo Park, Bo-Young Shin, Su-Hyeon Lee, Ines Sequeira, Chin Hee Mun, Jin-Su Shin, Jung-Ho Kim, Beom Seok Kim, Jin-Wook Noh, Eui-Seon Lee, Ji Young Son, Yuna Kim, Yeji Lee, Hee Cho, SunHyeon So, Jiyoon Park, Eunsu Choi, Jong-Won Oh, Sang-Won Lee, Tomohiro Morio, Fiona M Watt, Rho Hyun Seong, Sang-Kyou Lee: Lrig1-expression confers suppressive function to CD4+ cells and is essential for averting autoimmunity via the Smad2/3/Foxp3 axis. Nat Commun. 2023.09; 14 (1): 5382. ( PubMed , DOI )

Toshihiro Yamaguchi, Masao Iwagami, Chieko Ishiguro, Souichirou Kitao, Masashi Tetsuhashi, Masato Izumi, Shingo Yoshihara, Hiroshi Kobatake, Yoshifumi Banzai, Natsumi Kinoshita, Toyotaka Iguchi, Akira Oka, Tomohiro Morio, Kiyohito Nakai, Shuichiro Hayashi, Ryo Takagi: Updated report of COVID-19 vaccine safety monitoring in Japan: booster doses for Omicron variants and vaccinations for infants and young children. Lancet Reg Health West Pac. 2023.09; 38 100885. ( 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; ( 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 )

Masafumi Onodera, Toru Uchiyama, Tadashi Ariga, Masafumi Yamada, Takako Miyamura, Hironori Arizono, Tomohiro Morio: Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open-label, single-arm, phase 3, and postmarketing clinical study. Immun Inflamm Dis. 2023.07; 11 (7): e917. ( PubMed , DOI )

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 )

Takahiro Kido, Sho Hosaka, Kazuo Imagawa, Hiroko Fukushima, Tomohiro Morio, Shigeaki Nonoyama, Hidetoshi Takada: Initial manifestations in Patients with Inborn Errors of Immunity Based on Onset Age: a Study from a Nationwide Survey in Japan. J Clin Immunol. 2023.05; 43 (4): 747-755. ( 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 )

Ana García-García, Rebeca Pérez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, José M Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M Marco, Claudio Pignata, Aziz Bousfiha, Stuart E Turvey, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendinez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Claudia Fortuny, Swetha Madhavarapu, Daniel H Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro, , , Isabelle Meyts, Fabian Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean-Laurent Casanova, Laia Alsina, Carlos Rodríguez-Gallego: Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia. J Exp Med. 2023.05; 220 (5): e20220170. ( PubMed , DOI )

Motoi Yamashita, Tomohiro Morio: Germline STAT6 gain-of-function variants cause severe allergy. J Allergy Clin Immunol. 2023.05; 151 (5): 1252-1254. ( 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 )

Jennifer W Leiding, Tiphanie P Vogel, Valentine G J Santarlas, Rahul Mhaskar, Madison R Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham-Rundles, Cullen M Dutmer, Svetlana O Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S Bauer, Sarah E Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E Sullivan, Eric Allenspach, Neil Romberg, Sean G Deane, Benjamin T Prince, Melissa J Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O'Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris, Lisa M Bartnikas, Amy Chang Berger, Tracy A Briggs, Shannon Brothers, Vanessa Bundy, Alice Y Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C Cook, Mukesh M Desai, Ute Fischer, David A Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Hal M Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, , Mikko R J Seppänen, Troy R Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G Tangye, Megan A Cooper, Joshua D Milner, Lisa R Forbes Satter: Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. J Allergy Clin Immunol. 2023.04; 151 (4): 1081-1095. ( PubMed , DOI )

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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 )

Maiko Hirai, Hiroshi Yagasaki, Koji Kanezawa, Masaru Ueno, Katsuyoshi Shimozawa, Kohsuke Imai, Tomohiro Morio, Motohiro Kato, Yoshihiro Gocho, Satoshi Narumi, Yasuhiro Ebihara, Ichiro Morioka: Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation. J Pediatr Hematol Oncol. 2023.03; 45 (2): e290-e293. ( 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 )

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 )

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 )

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 )

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; 65 (1): e15481. ( PubMed , DOI )

Anita C S Hokken-Koelega, Manouk van der Steen, Margaret C S Boguszewski, Stefano Cianfarani, Jovanna Dahlgren, Reiko Horikawa, Veronica Mericq, Robert Rapaport, Abdullah Alherbish, Debora Braslavsky, Evangelia Charmandari, Steven D Chernausek, Wayne S Cutfield, Andrew Dauber, Asma Deeb, Wesley J Goedegebuure, Paul L Hofman, Elvira Isganatis, Alexander A Jorge, Christina Kanaka-Gantenbein, Kenichi Kashimada, Vaman Khadilkar, Xiao-Ping Luo, Sarah Mathai, Yuya Nakano, Mabel Yau: International Consensus Guideline on Small for Gestational Age (SGA): Etiology and Management from Infancy to Early Adulthood. Endocr Rev. 2023.01; ( 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 )

Kei Takasawa, Hiroyo Mabe, Fusa Nagamatsu, Naoko Amano, Yuichi Miyakawa, Akito Sutani, Reiko Kagawa, Satoshi Okada, Yusuke Tanahashi, Shigeru Suzuki, Shota Hiroshima, Keisuke Nagasaki, Sumito Dateki, Shigeru Takishima, Ikuko Takahashi, Kenichi Kashimada: Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence. Patient Prefer Adherence. 2023; 17 1885-1894. ( 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 )

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 )

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; 14 1244250. ( 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 )

Jumpei Kuroda, Kenichi Kashimada, Kaoru Okazaki: Neonatal alloimmune thrombocytopenia associated with fetomaternal hemorrhage. Pediatr Int. 2023; 65 (1): e15619. ( PubMed , DOI )

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 )

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 )

Morikuni Tobita, Yosuke Masubuchi, Yorimasa Ogata, Akio Mitani, Takeshi Kikuchi, Taku Toriumi, Jorge Luis Montenegro Raudales, Hiroshi Mizuno, Yuki Suzuki, Keiko Wakana, Hikari Yoneda, Reika Kamijo, Masahiro Kino-Oka, Tomohiro Morio, Kiyoshi Okada, Shinya Murakami, Masaki Honda: Study protocol for periodontal tissue regeneration with a mixture of autologous adipose-derived stem cells and platelet rich plasma: A multicenter, randomized, open-label clinical trial. Regen Ther. 2022.12; 21 436-441. ( 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 )

Maho Hatano, Tomohiro Udagawa, Toru Kanamori, Akito Sutani, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Tomohiro Morio, Masato Nishioka: A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria Hum Genome Var. 2022.12; 9 (1): 42. ( 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 )

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 )

Qian Zhang, Andrés Pizzorno, Lisa Miorin, Paul Bastard, Adrian Gervais, Tom Le Voyer, Lucy Bizien, Jeremy Manry, Jérémie Rosain, Quentin Philippot, Kelian Goavec, Blandine Padey, Anastasija Cupic, Emilie Laurent, Kahina Saker, Martti Vanker, Karita Särekannu, , , , , , , , Tamara García-Salum, Marcela Ferres, Nicole Le Corre, Javier Sánchez-Céspedes, María Balsera-Manzanero, Jordi Carratala, Pilar Retamar-Gentil, Gabriela Abelenda-Alonso, Adoración Valiente, Pierre Tiberghien, Marie Zins, Stéphanie Debette, Isabelle Meyts, Filomeen Haerynck, Riccardo Castagnoli, Luigi D Notarangelo, Luis I Gonzalez-Granado, Nerea Dominguez-Pinilla, Evangelos Andreakos, Vasiliki Triantafyllia, Carlos Rodríguez-Gallego, Jordi Solé-Violán, José Juan Ruiz-Hernandez, Felipe Rodríguez de Castro, José Ferreres, Marisa Briones, Joost Wauters, Lore Vanderbeke, Simon Feys, Chen-Yen Kuo, Wei-Te Lei, Cheng-Lung Ku, Galit Tal, Amos Etzioni, Suhair Hanna, Thomas Fournet, Jean-Sebastien Casalegno, Gregory Queromes, Laurent Argaud, Etienne Javouhey, Manuel Rosa-Calatrava, Elisa Cordero, Teresa Aydillo, Rafael A Medina, Kai Kisand, Anne Puel, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Sophie Trouillet-Assant, Adolfo García-Sastre, Jean-Laurent Casanova: Autoantibodies against type I IFNs in patients with critical influenza pneumonia. J Exp Med. 2022.11; 219 (11): e20220514. ( PubMed , 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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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 )

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 )

Ryosei Iemura, Shizuka Kirino, Akito Sutani, Kenichi Kashimada, Kei Takasawa: Autonomously functioning thyroid nodule due to a somatic TSHR mutation. Pediatr Int. 2022.01; 64 (1): e15157. ( 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 )

Sho Hosaka, Takahiro Kido, Kazuo Imagawa, Hiroko Fukushima, Tomohiro Morio, Shigeaki Nonoyama, Hidetoshi Takada: Vaccination for Patients with Inborn Errors of Immunity: a Nationwide Survey in Japan J Clin Immunol. 2022.01; 43 (1): 183-194. ( 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 )

Kenichi Kashimada: When to eat and sleep matters to children's health. Pediatr Int. 2022.01; 64 (1): e15063. ( PubMed , DOI )

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 )

Pritesh P Jain, Susumu Hosokawa, Aleksandra Babicheva, Tengteng Zhao, Jiyuan Chen, Patricia A Thistlethwaite, Ayako Makino, Jason X-J Yuan: In Vivo and Ex Vivo Experimental Approach for Studying Functional Role of Notch in Pulmonary Vascular Disease. Methods Mol Biol. 2022; 2472 209-220. ( PubMed , DOI )

Yoshinaga M, Horigome H, Ayusawa M, Yasuda K, Kogaki S, Doi S, Tateno S, Ohta K, Hokosaki T, Nishihara E, Iwamoto M, Sumitomo N, Ushinohama H, Izumida N, Tauchi N, Kato Y, Kato T, Chisaka T, Higaki T, Yoneyama T, Abe K, Nozaki Y, Komori A, Kawai S, Ninomiya Y, Tanaka Y, Nuruki N, Sonoda M, Ueno K, Hazeki D, Nomura Y, Sato S, Hirono K, Hosokawa S, Takechi F, Ishikawa Y, Hata T, Ichida F, Ohno S, Makita N, Horie M, Matsushima S, Tsutsui H, Ogata H, Takahashi H, Nagashima M: Electrocardiographic Diagnosis of Hypertrophic Cardiomyopathy in the Pre- and Post-Diagnostic Phases in Children and Adolescents. Circulation journal : official journal of the Japanese Circulation Society. 2021.12; 86 (1): 118-127. ( 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 )

Hye Sun Kuehn, Jingjie Chang, Motoi Yamashita, Julie E Niemela, Chengcheng Zou, Kazuki Okuyama, Junji Harada, Jennifer L Stoddard, Cristiane J Nunes-Santos, Brigette Boast, Ryan M Baxter, Elena W Y Hsieh, Mary Garofalo, Thomas A Fleisher, Tomohiro Morio, Ichiro Taniuchi, Cullen M Dutmer, Sergio D Rosenzweig: T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients. J Exp Med. 2021.12; 218 (12): ( 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 )

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 )

Adam Wahida, Madeleine Müller, Andreas Hiergeist, Bastian Popper, Katja Steiger, Caterina Branca, Markus Tschurtschenthaler, Thomas Engleitner, Sainitin Donakonda, Jordy De Coninck, Rupert Öllinger, Marie K Pfautsch, Nicole Müller, Miguel Silva, Sinem Usluer, Erik Thiele Orberg, Jan P Böttcher, Nicole Pfarr, Martina Anton, Julia B Slotta-Huspenina, Andreas G Nerlich, Tobias Madl, Marijana Basic, André Bleich, Geert Berx, Jürgen Ruland, Percy A Knolle, Roland Rad, Timon E Adolph, Peter Vandenabeele, Hirokazu Kanegane, André Gessner, Philipp J Jost, Monica Yabal: XIAP restrains TNF-driven intestinal inflammation and dysbiosis by promoting innate immune responses of Paneth and dendritic cells Sci Immunol. 2021.11; 6 (65): eabf7235. ( PubMed , DOI )

Miwako Toyohara, Yuko Kajiho, Etsushi Toyofuku, Chie Takahashi, Keiho Owada, Shoichiro Kanda, Yutaka Harita, Hidenori Ohnishi, Taizo Wada, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Akira Oka: An infant with X-linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report Clin Case Rep. 2021.11; 9 (11): e05093. ( PubMed , DOI )

Kei Takasawa, Hirokazu Kanegane, Kenichi Kashimada, Tomohiro Morio: Endocrinopathies in Inborn Errors of Immunity Front Immunol. 2021.11; 12 786241. ( PubMed , DOI )

Haitian Nan, Hiroshi Shiraku, Tomoko Mizuno, Yoshihisa Takiyama: A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature. BMC Neurol. 2021.11; 21 (1): 439. ( PubMed , DOI )

Isshiki K, Kamiya T, Endo A, Okamoto K, Osumi T, Kawai T, Arai K, Tomizawa D, Ohtsuka K, Nagahori M, Imai K, Kato M, Kanegane H: Vedolizumab therapy for pediatric steroid-refractory gastrointestinal acute graft-versus-host disease. Int J Hematol. 2021.11; ( PubMed , DOI )

Mitsuru Mizuno, Kentaro Endo, Hisako Katano, Naoki Amano, Masaki Nomura, Yoshinori Hasegawa, Nobutake Ozeki, Hideyuki Koga, Naoko Takasu, Osamu Ohara, Tomohiro Morio, Ichiro Sekiya: Transplantation of human autologous synovial mesenchymal stem cells with trisomy 7 into the knee joint and 5 years of follow-up. Stem Cells Transl Med. 2021.11; 10 (11): 1530-1543. ( PubMed , DOI )

Xi Yang, Han Yao, Qian Zhao, Qin Zhao, Xin Yan, Zhiyong Zhang, Peiyan Kong, Xi Zhang, Hirokazu Kanegane, Xiaodong Zhao, Xuemei Tang: UNC13D mutation in a patient with juvenile polymyositis with recurrent macrophage activation syndrome Rheumatology (Oxford). 2021.11; 60 (11): e404-e406. ( PubMed , DOI )

Mayuka Shiraki, Eleri Williams, Norifumi Yokoyama, Kunihiro Shinoda, Zohreh Nademi, Kana Matsumoto, Hiroshi Nihira, Yoshitaka Honda, Kazushi Izawa, Ryuta Nishikomori, Mary A Slatter, Andrew J Cant, Andrew R Gennery, Hidenori Ohnishi, Hirokazu Kanegane: Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency J Clin Immunol. 2021.11; 41 (8): 1954-1956. ( PubMed , DOI )

Satoshi Miyamoto, Katsutsugu Umeda, Mio Kurata, Akira Nishimura, Masakatsu Yanagimachi, Masataka Ishimura, Maho Sato, Tomonari Shigemura, Motohiro Kato, Yoji Sasahara, Akihiro Iguchi, Takashi Koike, Yoshiyuki Takahashi, Michiko Kajiwara, Masami Inoue, Yoshiko Hashii, Hiromasa Yabe, Koji Kato, Yoshiko Atsuta, Kohsuke Imai, Tomohiro Morio: Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study. J Clin Immunol. 2021.11; 41 (8): 1865-1877. ( PubMed , DOI )

Yuko Ishii, Aiko Sato-Otsubo, Junko Takita, Tomohiro Morio, Masatoshi Takagi: Copy number alteration analysis for neuroblastoma using droplet digital polymerase chain reaction. Pediatr Int. 2021.10; 63 (10): 1192-1197. ( PubMed , DOI )

Yoko Saito, Kei Takasawa, Maki Gau, Takeru Yamauchi, Ryuichi Nakagawa, Yuichi Miyakawa, Akito Sutani, Atsumi Hosokawa-Tsuji, Shigeru Takishima, Yohei Matsubara, Tomohiro Morio, Kenichi Kashimada: Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency. Clin Pediatr Endocrinol. 2021.10; 30 (4): 155-161. ( PubMed , DOI )

Motoi Yamashita, Tomohiro Morio: Another Exciting Data-HCT Successfully Cured Patients with DADA2 : A commentary on "Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients" by Hashem H et al. J Clin Immunol. 2021.10; 41 (7): 1443-1445. ( PubMed , DOI )

Keisuke Okamoto, Tomohiro Morio: Inborn errors of immunity with eosinophilia. Allergol Int. 2021.10; 70 (4): 415-420. ( PubMed , DOI )

Koji Kato, Hiromasa Yabe, Nobuyuki Shimozawa, Souichi Adachi, Mineo Kurokawa, Yoshiko Hashii, Atsushi Sato, Nao Yoshida, Makiko Kaga, Osamu Onodera, Shunichi Kato, Yoshiko Atsuta, Tomohiro Morio: Stem cell transplantation for pediatric patients with adrenoleukodystrophy: A nationwide retrospective analysis in Japan. Pediatr Transplant. 2021.10; e14125. ( PubMed , DOI )

Shintaro Ono, Kozue Takeshita, Yuko Kiridoshi, Motohiro Kato, Takahiro Kamiya, Akihiro Hoshino, Masakatsu Yanagimachi, Katsuhiro Arai, Ichiro Takeuchi, Nariaki Toita, Toshihiko Imamura, Yoji Sasahara, Junichi Sugita, Kazuko Hamamoto, Masanobu Takeuchi, Shoji Saito, Masaei Onuma, Hiroshi Tsujimoto, Masahiro Yasui, Takashi Taga, Yuki Arakawa, Yuichi Mitani, Nobuyuki Yamamoto, Kohsuke Imai, Wataru Suda, Masahira Hattori, Osamu Ohara, Tomohiro Morio, Kenya Honda, Hirokazu Kanegane: Hematopoietic cell transplantation rescues inflammatory bowel disease and dysbiosis of gut microbiota in XIAP deficiency. J Allergy Clin Immunol Pract. 2021.10; 9 (10): 3767-3780. ( PubMed , DOI )

Daisuke Toyama, Akihiro Hoshino, Kento Inoue, Takahiro Kamiya, Hirokazu Kanegane, Shohei Yamamoto: Myelodysplastic Syndrome in a Patient with IPEX Syndrome J Clin Immunol. 2021.10; 41 (7): 1683-1685. ( PubMed , DOI )

Shimizu Masaki, Shimbo Asami, Yamazaki Susumu, Mori Masaaki: Concurrent lupus enteritis and cystitis PEDIATRICS INTERNATIONAL. 2021.09; 63 (9): 1142-1143. ( PubMed , DOI )

Masakatsu Yanagimachi, Sayaka Fukuda, Fumiko Tanaka, Mari Iwamoto, Chiho Takao, Kunihiro Oba, Natsuko Suzuki, Koji Kiyohara, Dai Kuranobu, Norimasa Tada, Ayako Nagashima, Taku Ishii, Yoko Ino, Yayoi Kimura, Nobutoshi Nawa, Takeo Fujiwara, Takuya Naruto, Tomohiro Morio, Shouzaburo Doi, Masaaki Mori: Leucine-rich alpha-2-glycoprotein 1 and angiotensinogen as diagnostic biomarkers for Kawasaki disease. PLoS One. 2021.09; 16 (9): e0257138. ( PubMed , DOI )

Ryota Shirai, Tomoo Osumi, Aiko Sato-Otsubo, Kazuhiko Nakabayashi, Takeshi Mori, Masanori Yoshida, Kaoru Yoshida, Mika Kohri, Takashi Ishihara, Shiho Yasue, Toshihiko Imamura, Mikiya Endo, Satoshi Miyamoto, Kentaro Ohki, Masashi Sanada, Nobutaka Kiyokawa, Seishi Ogawa, Takako Yoshioka, Kenichiro Hata, Masatoshi Takagi, Motohiro Kato: Genetic features of B-cell lymphoblastic lymphoma with TCF3-PBX1. Cancer Rep (Hoboken). 2021.09; 5 (9): e1559. ( PubMed , DOI )

Dirk Roos, Karin van Leeuwen, Amy P Hsu, Debra Long Priel, Amber Begtrup, Rhonda Brandon, Marie José Stasia, Faris Ghalib Bakri, Nezihe Köker, M Yavuz Köker, Manisha Madkaika, Martin de Boer, Maria Bravo Garcia-Morato, Juan Luis Valdivieso Shephard, Joachim Roesler, Hirokazu Kanegane, Toshinao Kawai, Gigliola Di Matteo, Mohammad Shahrooei, Jacinta Bustamante, Amit Rawat, Pandiarajan Vignesh, Esmaeil Mortaz, Abbas Fayezi, Deniz Cagdas, Ilhan Tezcan, Maleewan Kitcharoensakkul, Mary C Dinauer, Isabelle Meyts, Baruch Wolach, Antonio Condino-Neto, Christa S Zerbe, Steven M Holland, Harry L Malech, John I Gallin, Douglas B Kuhns: Hematologically important mutations: X-linked chronic granulomatous disease (fourth update) Blood Cells Mol Dis. 2021.09; 90 102587. ( PubMed , DOI )

Takao Karasawa, Ko Kudo, Kay Tanita, Yoshihiro Takahashi, Hirokazu Kanegane, Kiminori Terui: Epstein-Barr Virus-Negative Granulomatous Disease Due to SAP Deficiency J Clin Immunol. 2021.08; 41 (6): 1372-1375. ( PubMed , DOI )

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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Takaki Asano, Bertrand Boisson, Fanny Onodi, Daniela Matuozzo, Marcela Moncada-Velez, Majistor Raj Luxman Maglorius Renkilaraj, Peng Zhang, Laurent Meertens, Alexandre Bolze, Marie Materna, Sarantis Korniotis, Adrian Gervais, Estelle Talouarn, Benedetta Bigio, Yoann Seeleuthner, Kaya Bilguvar, Yu Zhang, Anna-Lena Neehus, Masato Ogishi, Simon J Pelham, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Pere Soler-Palacín, Roger Colobran, Andrea Martin-Nalda, Jacques G Rivière, Yacine Tandjaoui-Lambiotte, Khalil Chaïbi, Mohammad Shahrooei, Ilad Alavi Darazam, Nasrin Alipour Olyaei, Davood Mansouri, Nevin Hatipoğlu, Figen Palabiyik, Tayfun Ozcelik, Giuseppe Novelli, Antonio Novelli, Giorgio Casari, Alessandro Aiuti, Paola Carrera, Simone Bondesan, Federica Barzaghi, Patrizia Rovere-Querini, Cristina Tresoldi, Jose Luis Franco, Julian Rojas, Luis Felipe Reyes, Ingrid G Bustos, Andres Augusto Arias, Guillaume Morelle, Kyheng Christèle, Jesús Troya, Laura Planas-Serra, Agatha Schlüter, Marta Gut, Aurora Pujol, Luis M Allende, Carlos Rodriguez-Gallego, Carlos Flores, Oscar Cabrera-Marante, Daniel E Pleguezuelo, Rebeca Pérez de Diego, Sevgi Keles, Gokhan Aytekin, Ozge Metin Akcan, Yenan T Bryceson, Peter Bergman, Petter Brodin, Daniel Smole, C I Edvard Smith, Anna-Carin Norlin, Tessa M Campbell, Laura E Covill, Lennart Hammarström, Qiang Pan-Hammarström, Hassan Abolhassani, Shrikant Mane, Nico Marr, Manar Ata, Fatima Al Ali, Taushif Khan, András N Spaan, Clifton L Dalgard, Paolo Bonfanti, Andrea Biondi, Sarah Tubiana, Charles Burdet, Robert Nussbaum, Amanda Kahn-Kirby, Andrew L Snow, , , , , , , , , , Jacinta Bustamante, Anne Puel, Stéphanie Boisson-Dupuis, Shen-Ying Zhang, Vivien Béziat, Richard P Lifton, Paul Bastard, Luigi D Notarangelo, Laurent Abel, Helen C Su, Emmanuelle Jouanguy, Ali Amara, Vassili Soumelis, Aurélie Cobat, Qian Zhang, Jean-Laurent Casanova: X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 Sci Immunol. 2021.08; 6 (62): ( PubMed , DOI )

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 )

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 )

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, Tomohiro Morio: Inborn errors of IKAROS and AIOLOS Curr Opin Immunol. 2021.07; 72 239-248. ( 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 )

Atsumi Tsuji-Hosokawa, Kenichi Kashimada: Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan. Int J Neonatal Screen. 2021.06; 7 (3): 36. ( PubMed , DOI )

Akira Nishimura, Takuya Naruto, Satoshi Miyamoto, Andrew Grigg, Julian J Bosco, Akihiro Hoshino, Keishiro Amano, Shotaro Iwamoto, Masahiro Hirayama, Masahiro Migita, Osamu Ohara, Masatoshi Takagi, Tomohiro Morio, Menno C van Zelm, Hirokazu Kanegane: Genomics analysis of leukaemia predisposition in X-linked agammaglobulinaemia. Br J Haematol. 2021.06; 193 (6): 1277-1281. ( PubMed , DOI )

Tomohiro Morio, Kenji Gotoh, Tomoyuki Imagawa, Kimio Morita, Hidenori Ohnishi, Kozo Yasui, Jutta Hofmann, John Philip Lawo, Amgad Shebl, Mikhail A Rojavin: Safety and tolerability of IgPro10 in Japanese primary immunodeficiency patients: a registrational study. Int J Hematol. 2021.06; 113 (6): 921-929. ( PubMed , DOI )

Masayuki Nagasawa, Noriko Mitsuiki, Masakatsu Yanagimachi, Masahide Yamamoto, Tetsuya Fukuda, Osamu Miura, Ryutaro Oba, Akira Igarashi, Kinya Nagata, Tomohiro Morio: Utility of novel T-cell-specific extracellular vesicles in monitoring and evaluation of acute GVHD. Int J Hematol. 2021.06; 113 (6): 910-920. ( PubMed , DOI )

Tamaki Kato, Yoshiteru Tamura, Hiroshi Matsumoto, Osamu Kobayashi, Hideaki Ishiguro, Masaya Ogawa, Koyo Tsujikawa, Yasuhiro Hasegawa, Mitsuhiro Sakamoto, Masaaki Konagaya, Hideki Houzen, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Akio Yokoseki, Osamu Onodera, Shigeaki Nonoyama: Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia. Clin Immunol. 2021.06; 108776. ( PubMed , DOI )

Thomas Magg, Tsubasa Okano, Lars M Koenig, Daniel F R Boehmer, Samantha L Schwartz, Kento Inoue, Jennifer Heimall, Francesco Licciardi, Julia Ley-Zaporozhan, Ronald M Ferdman, Andrés Caballero-Oteyza, Esther N Park, Brenda M Calderon, Debayan Dey, Hirokazu Kanegane, Kazutoshi Cho, Davide Montin, Karl Reiter, Matthias Griese, Michael H Albert, Meino Rohlfs, Paul Gray, Christoph Walz, Graeme L Conn, Kathleen E Sullivan, Christoph Klein, Tomohiro Morio, Fabian Hauck: gain-of-function variants cause an autoinflammatory immunodeficiency. Sci Immunol. 2021.06; 6 (60): ( PubMed , DOI )

Kei Takasawa, Yuichi Miyakawa, Yoko Saito, Eriko Adachi, Tsunanori Shidei, Akito Sutani, Maki Gau, Ryuichi Nakagawa, Atsuko Taki, Kenichi Kashimada, Tomohiro Morio: Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation. Clin Endocrinol (Oxf). 2021.06; 94 (6): 940-948. ( PubMed , DOI )

Motoi Yamashita, Kento Inoue, Tsubasa Okano, Tomohiro Morio: Inborn errors of immunity-recent advances in research on the pathogenesis. Inflamm Regen. 2021.05; 41 (1): 9. ( PubMed , DOI )

Tanita K, Sakura F, Nambu R, Tsumura M, Imanaka Y, Ohnishi H, Kato Z, Pan J, Hoshino A, Suzuki K, Yasutomi M, Umetsu S, Okada C, Takagi M, Imai K, Ohara O, Muise AM, Okada S, Morio T, Kanegane H.: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3 J Clin Immunol.. 2021.05; 41 (4): 780-790. ( PubMed )

Shimizu M: Macrophage activation syndrome in systemic juvenile idiopathic arthritis. Immunological medicine. 2021.05; 1-9. ( PubMed , DOI )

Keisuke Okamoto, Tomohiro Morio, Yoshikazu Nakamura, Hiroshi Hataya, Koichi Mizuta, Masaaki Mori: Hospitalisations due to respiratory syncytial virus infection in children with Down syndrome before and after palivizumab recommendation in Japan. Acta Paediatr. 2021.04; 110 (4): 1299-1306. ( PubMed , DOI )

Keisuke Nagasaki, Akie Nakamura, Takeru Yamauchi, Hotaka Kamasaki, Yosuke Hara, Junko Kanno, Satomi Koyama, Yoshiaki Ohtsu, Ikuko Takahashi, Shigeru Suzuki, Kenichi Kashimada, Toshihiro Tajima: Investigation of TSH receptor blocking antibodies in childhood-onset atrophic autoimmune thyroiditis. Clin Pediatr Endocrinol. 2021.04; 30 (2): 79-84. ( PubMed , DOI )

Stuart G Tangye, Waleed Al-Herz, Aziz Bousfiha, Charlotte Cunningham-Rundles, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Capucine Picard, Anne Puel, Jennifer Puck, Mikko R J Seppänen, Raz Somech, Helen C Su, Kathleen E Sullivan, Troy R Torgerson, Isabelle Meyts: The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee J Clin Immunol. 2021.04; 41 (3): 666-679. ( PubMed , DOI )

Eriko Totsune, Tomohiro Nakano, Kunihiko Moriya, Daichi Sato, Dai Suzuki, Akinobu Miura, Saori Katayama, Hidetaka Niizuma, Junko Kanno, Menno C van Zelm, Kohsuke Imai, Hirokazu Kanegane, Yoji Sasahara, Shigeo Kure: Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants Front Immunol. 2021.04; 12 677572. ( PubMed , DOI )

Tasaki Y, Inoue N, Shimizu M, Sugimoto N, Ishikawa S, Mizuta M, Yokoyama T, Kuroda M, Ohta K, Yachie A, Wada T: Serum insulin-like growth factor-binding protein 2 levels as an indicator for disease severity in enterohemorrhagic Escherichia coli induced hemolytic uremic syndrome. Renal failure. 2021.03; 43 (1): 382-387. ( PubMed , DOI )

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 )

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 )

Kadowaki S, Hashimoto K, Nishimura T, Kashimada K, Kadowaki T, Kawamoto N, Imai K, Okada S, Kanegane H, Ohnishi H.: Functional analysis of novel A20 variants in patients with atypical inflammatory diseases. Arthritis Res Ther. 2021.02; 23 (1): 52. ( PubMed , DOI )

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 )

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 )

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 )

Hirofumi Haraguchi, Miyuki Harada, Kenichi Kashimada, Reiko Horikawa, Hideya Sakakibara, Makio Shozu, Tomoyuki Fujii, Yutaka Osuga, Koji Kugu: National survey of primary amenorrhea and relevant conditions in Japan. J Obstet Gynaecol Res. 2021.02; 47 (2): 774-777. ( PubMed , DOI )

Kenichi Kashimada: The flash glucose monitoring system is useful but has some limitations. Pediatr Int. 2021.02; 63 (2): 129. ( PubMed , DOI )

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 )

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 )

Chiho Sugisawa, Makoto Ono, Kenichi Kashimada, Tomonobu Hasegawa, Satoshi Narumi: Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron. J Clin Endocrinol Metab. 2021.01; 106 (1): e265-e272. ( 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 )

Miharu Yabe, Tomohiro Morio, Ken Tabuchi, Daisuke Tomizawa, Daiichiro Hasegawa, Hiroyuki Ishida, Nao Yoshida, Takashi Koike, Yoshiyuki Takahashi, Katsuyoshi Koh, Yasuhiro Okamoto, Hideki Sano, Keisuke Kato, Yoshinobu Kanda, Hiroaki Goto, Junko Takita, Takako Miyamura, Maiko Noguchi, Koji Kato, Yoshiko Hashii, Yoshiko Astuta, Hiromasa Yabe: Long-term outcome in patients with Fanconi anemia who received hematopoietic stem cell transplantation: a retrospective nationwide analysis Int. J. Hematol.. 2021.01; 113 (1): 134-144. ( PubMed , DOI )

Tomohiro Udagawa, Yusuke Matsuyama, Mika Okutsu, Yaeko Motoyoshi, Mari Okada, Norimasa Tada, Eriko Kikuchi, Masuhiro Shimoda, Toru Kanamori, Tae Omori, Masaki Takahashi, Kohsuke Imai, Akifumi Endo, Takeo Fujiwara and Tomohiro Morio: Association between Immunoglobulin M and steroid resistance in children with nephrotic syndrome: A retrospective multicenter study in Japan Kidney 360. 2021.01; 2 (3): 487-493. ( 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 )

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

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

Si R, Zhang Q, Cabrera JTO, Zheng Q, Tsuji-Hosokawa A, Watanabe M, Hosokawa S, Xiong M, Jain PP, Ashton AW, Yuan JX, Wang J, Makino A: Chronic Hypoxia Decreases Endothelial Connexin 40, Attenuates Endothelium-Dependent Hyperpolarization-Mediated Relaxation in Small Distal Pulmonary Arteries, and Leads to Pulmonary Hypertension. Journal of the American Heart Association. 2020.12; 9 (24): e018327. ( PubMed , DOI )

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 )

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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 )

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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 )

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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 )

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 )

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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 )

Jain PP, Hosokawa S, Xiong M, Babicheva A, Zhao T, Rodriguez M, Rahimi S, Pourhashemi K, Balistrieri F, Lai N, Malhotra A, Shyy JY, Valdez-Jasso D, Thistlethwaite PA, Makino A, Yuan JX: Revisiting the mechanism of hypoxic pulmonary vasoconstriction using isolated perfused/ventilated mouse lung. Pulmonary circulation. 2020.10; 10 (4): 2045894020956592. ( 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 )

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 )

Mitsuru Mizuno, Kentaro Endo, Hisako Katano, Ayako Tsuji, Naomi Kojima, Ken Watanabe, Norio Shimizu, Tomohiro Morio, Ichiro Sekiya: The environmental risk assessment of cell-processing facilities for cell therapy in a Japanese academic institution. PLoS ONE. 2020.08; 15 (8): e0236600. ( PubMed , DOI )

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 )

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 )

Nakano Y, Komiya C, Shimizu H, Mishima H, Shiba K, Tsujimoto K, Ikeda K, Kashimada K, Dateki S, Yoshiura KI, Ogawa Y, Yamada T: A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5. Endocrine Journal. 2020.07; 67 (11): 1099-1105. ( 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 )

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 )

Urae S, Harita Y, Udagawa T, Ode KL, Nagahama M, Kajiho Y, Kanda S, Saito A, Ueda HR, Nangaku M, Oka A: The cellular model of albumin endocytosis uncovers link between membrane and nuclear proteins. Journal of cell science. 2020.06; 133 (13): ( PubMed , DOI )

Jean-Laurent Casanova, Helen C Su, : A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection. Cell. 2020.06; 181 (6): 1194-1199. ( 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 )

Hiroshi Ureshino, Shuichi Koarada, Kazuharu Kamachi, Mariko Yoshimura, Masako Yokoo, Yasushi Kubota, Toshihiko Ando, Tatsuo Ichinohe, Tomohiro Morio, Shinya Kimura: Immune dysregulation syndrome with de novo CTLA4 germline mutation responsive to abatacept therapy. Int J Hematol. 2020.06; 111 (6): 897-902. ( 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 )

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 )

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 )

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 )

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Nadia Y Edelsztein, Kenichi Kashimada, Helena F Schteingart, Rodolfo A Rey: CYP26B1 declines postnatally in Sertoli cells independently of androgen action in the mouse testis. Mol. Reprod. Dev. 2020.01; 87 (1): 66-77. ( PubMed , DOI )

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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 )

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Stuart G Tangye, Waleed Al-Herz, Aziz Bousfiha, Talal Chatila, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Capucine Picard, Jennifer Puck, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020.01; 40 (1): 24-64. ( PubMed , DOI )

Nishimura A, Hirabayashi S, Hasegawa D, Yoshida K, Shiraishi Y, Ashiarai M, Hosoya Y, Fujiwara T, Harigae H, Miyano S, Ogawa S, Manabe A: Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome Pediatric Blood and Cancer. 2020; 68 (2): e28799. ( 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.

Tomohiro Morio, Gautam Baheti, Michael A Tortorici, Jutta Hofmann, Mikhail A Rojavin: Pharmacokinetic properties of Privigen® in Japanese patients with primary immunodeficiency. Immunol Med. 2019.12; 42 (4): 162-168. ( PubMed , DOI )

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 )

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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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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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 )

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

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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 )

Nozu Kandai, Nakanishi Koichi, Abe Yoshifusa, Udagawa Tomohiro, Okada Shinichi, Okamoto Takayuki, Kaito Hiroshi, Kanemoto Katsuyoshi, Kobayashi Anna, Tanaka Eriko, Tanaka Kazuki, Hama Taketsugu, Fujimaru Rika, Miwa Saori, Yamamura Tomohiko, Yamamura Natsusmi, Horinouchi Tomoko, Minamikawa Shogo, Nagata Michio, Iijima Kazumoto: A review of clinical characteristics and genetic backgrounds in Alport syndrome CLINICAL AND EXPERIMENTAL NEPHROLOGY. 2019.02; 23 (2): 158-168. ( 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 )

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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 the insulin receptor (INSR) gene. J Diabetes. 2019.01; 11 (1): 46-54. ( PubMed , DOI )

Keiichi Iwanami, Tsubasa Okano, Osamu Ohara, Tomohiro Morio: Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema. Intern Med. 2019.01; 58 (2): 213-216. ( 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 )

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 )

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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 )

Nishimura A, Hasegawa D, Hirabayashi S, Kanabuchi S, Yamamoto K, Aiga S, Nishitani M, Hosoya Y, Noguchi Y, Ohki K, Kiyokawa N, Mori S, Manabe A: Very late relapse cases of TCF3-ZNF384-positive acute lymphoblastic leukemia Pediatric Blood and Cancer. 2019; ( PubMed )

Hirabayashi S, Hasegawa D, Yamamoto K, Nishimura A, Hosoya Y, Shuo T, Kiyokawa N, Miura M, Takahashi N, Manabe A: Dasatinib and low-intensity chemotherapy for Philadelphia chromosome-positive acute lymphoblastic leukemia in a child with Down syndrome Pediatric Blood and Cancer. 2019; ( PubMed )

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 )

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 )

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 )

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

Nishiyama-Fujita Y, Kawana-Tachikawa AI, Ono T, Tanaka Y, Kato T, Heslop HE, Morio T, Takahashi S: Generation of multivirus-specific T cells by a single stimulation of peripheral blood mononuclear cells with a peptide mixture using serum-free medium. Tanaka Y. 2018.08; ( PubMed , DOI )

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 )

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 )

Takakura M, Shimizu M, Mizuta M, Inoue N, Tasaki Y, Ohta K, Furuichi K, Wada T, Yachie A: Successful treatment of rituximab- and steroid-resistant nephrotic syndrome with leukocytapheresis. Journal of clinical apheresis. 2018.06; 33 (3): 409-411. ( PubMed , DOI )

Noguchi Y, Tomizawa D, Hiroki H, Miyamoto S, Tezuka M, Miyawaki R, Tanaka-Kubota M, Okano T, Kobayashi C, Mitsuiki N, Aoki Y, Imai K, Kajiwara M, Kanegane H, Morio T, Takagi M.: Hematopoietic cell transplantation for myeloid/NK cell precursor acute leukemia in second remission. Clin Case Rep. 2018.06; 6 (6): 1023-1028. ( PubMed , DOI )

Iwasawa S, Uyeda T, Saito M, Ishii T, Inage A, Hamamichi Y, Yazaki S, Yoshikawa T: Efficacy and Safety of Low-Dose Amiodarone Therapy for Tachyarrhythmia in Congenital Heart Disease. Pediatric cardiology. 2018.06; 39 (5): 1016-1022. ( PubMed , DOI )

Kenji Kubara, Kazuto Yamazaki, Yasuharu Ishihara, Takuya Naruto, Huan-Ting Lin, Ken Nishimura, Manami Ohtaka, Mahito Nakanishi, Masashi Ito, Kappei Tsukahara, Tomohiro Morio, Masatoshi Takagi, Makoto Otsu: Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity. Stem Cell Reports. 2018.06; 11 (2): 380-394. ( PubMed , DOI )

Rina Nishii, Takaya Moriyama, Laura J Janke, Wenjian Yang, Chase C Suiter, Ting-Nien Lin, Lie Li, Kentaro Kihira, Hidemi Toyoda, Ute Hofmann, Matthias Schwab, Masatoshi Takagi, Tomohiro Morio, Atsushi Manabe, Shirley Kham, Nan Jiang, Karen R Rabin, Motohiro Kato, Katsuyoshi Koh, Allen Eng-Juh Yeoh, Hiroki Hori, Jun J Yang: Preclinical evaluation of NUDT15-guided thiopurine therapy and its effects on toxicity and antileukemic efficacy. Blood. 2018.05; 131 (22): 2466-2474. ( PubMed , DOI )

Susumu Hosokawa, Rebecca R Vanderpool, Taku Ishii, Mitsunori Nishiyama, Shozaburo Doi: What Causes Pulmonary Arterial Hypertension in Down Syndrome With Congenital Heart Disease? Circ. J.. 2018.05; 82 (6): 1513-1514. ( PubMed , DOI )

Mari Tanaka-Kubota, Koji Shinozaki, Satoshi Miyamoto, Masakatsu Yanagimachi, Tsubasa Okano, Noriko Mitsuiki, Masahiro Ueki, Masafumi Yamada, Kohsuke Imai, Masatoshi Takagi, Kazunaga Agematsu, Hirokazu Kanegane, Tomohiro Morio: Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease. Int. J. Hematol.. 2018.05; 107 (5): 610-614. ( PubMed , DOI )

Yoshinori Kawabe, Takahiro Morio, Yoshimasa Tanaka, Pauline Schaap: Glycogen synthase kinase 3 promotes multicellular development over unicellular encystation in encysting Dictyostelia. Evodevo. 2018.05; 9 12. ( PubMed , DOI )

Tanaka-Kubota Mari, Shinozaki Koji, Miyamoto Satoshi, Yanagimachi Masakatsu, Okano Tsubasa, Mitsuiki Noriko, Ueki Masahiro, Yamada Masafumi, Imai Kohsuke, Takagi Masatoshi, Agematsu Kazunaga, Kanegane Hirokazu, Morio Tomohiro: 原発性免疫不全症に伴う肺胞蛋白症に対する造血幹細胞移植(Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease) International Journal of Hematology. 2018.05; 107 (5): 610-614. ( 医中誌 )

Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom D, Lucena JM, Seidl M, Schmitt-Gräff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Schmid JP, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila T, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B.: Phenotype, penetrance, and treatment of 133 CTLA-4-insufficient individuals. J. Allergy Clin. Immunol.. 2018.05; ( PubMed , DOI )

Ono S, Nakayama M, Kanegane H, Hoshino A, Shimodera S, Shibata H, Fujino H, Fujino T, Yunomae Y, Okano T, Yamashita M, Yasumi T, Izawa K, Takagi M, Imai K, Zhang K, Marsh R, Picard C, Latour S, Ohara O, Morio T.: Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing. Int. J. Hematol.. 2018.05; ( PubMed , DOI )

Asami Shimbo, Kei Takasawa, Masato Nishioka, Tomohiro Morio, Masayuki Shimohira: Complications of Listeria meningitis in two immunocompetent children. Pediatr Int. 2018.05; 60 (5): 491-492. ( PubMed , DOI )

Hosokawa Susumu, Vanderpool Rebecca R., Ishii Taku, Nishiyama Mitsunori, Doi Shozaburo: 先天性心疾患を伴うダウン症候群における肺動脈性高血圧症の原因は何か(What Causes Pulmonary Arterial Hypertension in Down Syndrome With Congenital Heart Disease?) Circulation Journal. 2018.05; 82 (6): 1513-1514. ( 医中誌 )

Ryuichi Nakagawa, Atsumi Hosokawa-Tsuji, Yuki Aoki, Kei Takasawa, Mitsue Maru, Keisuke Nakajima, Akito Sutani, Yuichi Miyakawa, Daisuke Tomizawa, Kenichi Kashimada, Tomohiro Morio: Total body irradiation for hematopoietic stem cell transplantation during early childhood is associated with the risk for diabetes mellitus. Endocrine. 2018.04; 61 (1): 76-82. ( PubMed , DOI )

Okano T, Tsujita Y, Kanegane H, Mitsui-Sekinaka K, Tanita K, Miyamoto S, Yeh TW, Yamashita M, Terada N, Ogura Y, Takagi M, Imai K, Nonoyama S, Morio T.: Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases. J. Clin. Immunol.. 2018.04; ( PubMed , DOI )

Asano T, Okada S, Tsumura M, Yeh TW, Mitsui-Sekinaka K, Tsujita Y, Ichinose Y, Shimada A, Hashimoto K, Wada T, Imai K, Ohara O, Morio T, Nonoyama S, Kobayashi M.: Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome. Front Immunol. 2018.04; 9 568. ( PubMed , DOI )

Akihiro Hoshino, Takehiro Takashima, Kenichi Yoshida, Akira Morimoto, Yuta Kawahara, Tzu-Wen Yeh, Tsubasa Okano, Motoi Yamashita, Noriko Mitsuiki, Kohsuke Imai, Takashi Sakatani, Atsuko Nakazawa, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Tomohiro Morio, Hirokazu Kanegane: Dysregulation of Epstein-Barr virus infection in hypomorphic ZAP70 mutation J. Infect. Dis.. 2018.04; 218 (5): 825-834. ( PubMed , DOI )

Teruyoshi Shimoyama, Nozomi Matsuda, Masashi Kurobe, Takehiko Hayakawa, Masato Nishioka, Masayuki Shimohira, Kei Takasawa: Colonoscopic diagnosis and reduction of recurrent intussusception owing to Henoch-Schönlein purpura without purpura. Paediatr Int Child Health. 2018.04; 1-5. ( PubMed , DOI )

Tomonori Kadowaki, Hidenori Ohnishi, Norio Kawamoto, Tomohiro Hori, Kenichi Nishimura, Chie Kobayashi, Tomonari Shigemura, Shohei Ogata, Yuzaburo Inoue, Tomoki Kawai, Eitaro Hiejima, Masatoshi Takagi, Kohsuke Imai, Ryuta Nishikomori, Shuichi Ito, Toshio Heike, Osamu Ohara, Tomohiro Morio, Toshiyuki Fukao, Hirokazu Kanegane: Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders. J Allergy Clin Immunol. 2018.04; 141 (4): 1485-1488.e11. ( PubMed , DOI )

Yasuo Horikoshi, Katsutsugu Umeda, Kohsuke Imai, Hiromasa Yabe, Yoji Sasahara, Kenichiro Watanabe, Yukiyasu Ozawa, Yoshiko Hashii, Hidemitsu Kurosawa, Shigeaki Nonoyama, Tomohiro Morio: Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency. J. Pediatr. Hematol. Oncol.. 2018.03; 40 (2): 137-140. ( PubMed , DOI )

Kazutoshi Cho, Masafumi Yamada, Kazunaga Agematsu, Hirokazu Kanegane, Noriko Miyake, Masahiro Ueki, Takuma Akimoto, Norimoto Kobayashi, Satoru Ikemoto, Mishie Tanino, Atsushi Fujita, Itaru Hayasaka, Satoshi Miyamoto, Mari Tanaka-Kubota, Koh Nakata, Masaaki Shiina, Kazuhiro Ogata, Hisanori Minakami, Naomichi Matsumoto, Tadashi Ariga: Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. Am. J. Hum. Genet.. 2018.03; 102 (3): 480-486. ( PubMed , DOI )

Daniel Petersheim, Michel J Massaad, Saetbyul Lee, Alessia Scarselli, Caterina Cancrini, Kunihiko Moriya, Yoji Sasahara, Arjan C Lankester, Morna Dorsey, Daniela Di Giovanni, Liliana Bezrodnik, Hidenori Ohnishi, Ryuta Nishikomori, Kay Tanita, Hirokazu Kanegane, Tomohiro Morio, Erwin W Gelfand, Ashish Jain, Elizabeth Secord, Capucine Picard, Jean-Laurent Casanova, Michael H Albert, Troy R Torgerson, Raif S Geha: Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. J. Allergy Clin. Immunol.. 2018.03; 141 (3): 1060-1073.e3. ( PubMed , DOI )

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 )

Schulert GS, Minoia F, Bohnsack J, Cron RQ, Hashad S, KonÉ-Paut I, Kostik M, Lovell D, Maritsi D, Nigrovic PA, Pal P, Ravelli A, Shimizu M, Stanevicha V, Vastert S, Woerner A, de Benedetti F, Grom AA: Effect of Biologic Therapy on Clinical and Laboratory Features of Macrophage Activation Syndrome Associated With Systemic Juvenile Idiopathic Arthritis. Arthritis care & research. 2018.03; 70 (3): 409-419. ( PubMed , DOI )

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 )

Toshiaki Ono, Yuriko Fujita, Tetsuro Matano, Satoshi Takahashi, Tomohiro Morio, Ai Kawana-Tachikawa: Characterization of in vitro expanded virus-specific T cells toward adoptive immunotherapy against virus infection Jpn. J. Infect. Dis.. 2018.02; 71 (2): 122-128. ( 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 )

Udagawa Tomohiro, Harita Yutaka, Miura Kenichiro, Mitsui Jun, Ode Koji L., Morishita Shinichi, Urae Seiya, Kanda Shoichiro, Kajiho Yuko, Tsurumi Haruko, Ueda Hiroki R., Tsuji Shoji, Saito Akihiko, Oka Akira: Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells SCIENTIFIC REPORTS. 2018.02; 8 (1): 2351. ( PubMed , DOI )

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 )

Takagi Masatoshi, Hoshino Akihiro, Yoshida Kenichi, Ueno Hiroo, Imai Kohsuke, Piao Jinhua, Kanegane Hirokazu, Yamashita Motoi, Okano Tsubasa, Muramatsu Hideki, Okuno Yusuke, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Ogawa Seishi, Hayashi Yasuhide, Kojima Seiji, Morio Tomohiro: Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation Pediatr Blood Cancer. 2018.02; 65 (2): e26831.

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 )

Toshihiro Matsui, Takumi Matsumoto, Fumio Hirano, Fumika Tokunaga, Keisuke Okamoto, Shigeto Tohma, Tomohiro Morio, Hitoshi Kohsaka, Masaaki Mori: Survey of the awareness of adult rheumatologists regarding transitional care for patients with juvenile idiopathic arthritis in Japan Mod Rheumatol. 2018.01; 28 (6): 981-985. ( 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 )

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 )

Matsuda N, Taki A, Tsuji A, Nakajima K, Takasawa K, Morioka C, Minosaki Y, Oku K, Kashimada K, Morio T: Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2018; 27 (1): 31-38. ( PubMed , DOI )

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 )

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. 2017.12; ( PubMed , DOI )

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

Aziz Bousfiha, Leïla Jeddane, Capucine Picard, Fatima Ailal, H Bobby Gaspar, Waleed Al-Herz, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L K Tang, Stuart G Tangye, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan: The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J. Clin. Immunol. 2017.12; 38 (1): 129-143. ( PubMed , DOI )

Capucine Picard, H Bobby Gaspar, Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L K Tang, Stuart G Tangye, Troy R Torgerson, Kathleen E Sullivan: International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J. Clin. Immunol. 2017.12; 38 (1): 96-128. ( PubMed , DOI )

Kazuo Takayama, Naoki Akita, Natsumi Mimura, Rina Akahira, Yukimasa Taniguchi, Makoto Ikeda, Fuminori Sakurai, Osamu Ohara, Tomohiro Morio, Kiyotoshi Sekiguchi, Hiroyuki Mizuguchi: Generation of safe and therapeutically effective human induced pluripotent stem cell-derived hepatocyte-like cells for regenerative medicine Hepatol Commun. 2017.12; 1 (10): 1058-1069. ( 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 )

Nomura R, Miyai K, Nishimura G, Kashimada K, Morio T: Myhre syndrome: Age-dependent progressive phenotype Pediatrics International. 2017.11; 59 (11): 1205-1206.

Risa Nomura, Kentaro Miyai, Gen Nishimura, Kenichi Kashimada, Tomohiro Morio: Myhre syndrome: Age-dependent progressive phenotype Pediatr Int. 2017.11; 59 (11): 1205-1206. ( 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 )

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 )

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 )

Tomohiro Morio: Recent advances in the study of immunodeficiency and DNA damage response. Int. J. Hematol. 2017.10; 106 (3): 357-365. ( 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

Akira Endo, Miko Okamura, Shunsuke Yoshikawa, Yasuhiro Otomo, Tomohiro Morio: Multilateral Functional Alterations of Human Neutrophils in Sepsis: From the Point of Diagnosis to the Seventh Day. Shock. 2017.10; 48 (6): 629-637. ( PubMed , DOI )

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 )

Isoda T, Moore AJ, He Z, Chandra V, Aida M, Denholtz M, Piet van Hamburg J, Fisch KM, Chang AN, Fahl SP, Wiest DL, Murre C: Non-coding Transcription Instructs Chromatin Folding and Compartmentalization to Dictate Enhancer-Promoter Communication and T Cell Fate. Cell. 2017.09; 171 (1): 103-119.e18. ( PubMed , DOI )

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 )

Johanna Schepp, Janet Chou, Andrea Skrabl-Baumgartner, Peter D Arkwright, Karin R Engelhardt, Sophie Hambleton, Tomohiro Morio, Ekkehard Röther, Klaus Warnatz, Raif Geha, Bodo Grimbacher: 14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency. Front Immunol. 2017.08; 8 964. ( PubMed , DOI )

Akiko Tomioka, Mitsue Maru, Kenichi Kashimada, Hideya Sakakibara: Physical and social characteristics and support needs of adult female childhood cancer survivors who underwent hormone replacement therapy. Int. J. Clin. Oncol.. 2017.08; 22 (4): 786-792. ( 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 )

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 )

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 )

Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh: Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep. 2017.06; 7 (1): 3552. ( 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 )

Udagawa T, Jo T, Yanagihara T, Shimizu A, Mitsui J, Tsuji S, Morishita S, Onai R, Miura K, Kanda S, Kajiho Y, Tsurumi H, Oka A, Hattori M, Harita Y: Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome. Pediatric nephrology (Berlin, Germany). 2017.05; 32 (5): 801-809. ( 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 )

Nienke J H van Os, Anne F M Jansen, Marcel van Deuren, Asgeir Haraldsson, Nieke T M van Driel, Amos Etzioni, Michiel van der Flier, Charlotte A Haaxma, Tomohiro Morio, Amit Rawat, Michiel H D Schoenaker, Annarosa Soresina, Alexander M R Taylor, Bart P C van de Warrenburg, Corry M R Weemaes, Nel Roeleveld, Michèl A A P Willemsen: Ataxia-telangiectasia: Immunodeficiency and survival. Clin. Immunol.. 2017.05; 178 45-55. ( PubMed , DOI )

Haruna Yokoyama, Shimpei Baba, Jun Oyama, Kengo Moriyama, Tomohiro Morio: Early hypoperfusion on arterial spin labeling may be a diagnostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion. Brain Dev.. 2017.05; 39 (8): 722. ( 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 )

Shimpei Baba, Yuji Sugawara, Kengo Moriyama, Motoki Inaji, Taketoshi Maehara, Toshiyuki Yamamoto, Tomohiro Morio: Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation. Brain Dev. 2017.04; 39 (4): 341-344. ( 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 )

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 )

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 )

Chikako Morioka, Motohiro Komaki, Atsuko Taki, Izumi Honda, Naoki Yokoyama, Kengo Iwasaki, Sachiko Iseki, Tomohiro Morio, Ikuo Morita: Neuroprotective effects of human umbilical cord-derived mesenchymal stem cells on periventricular leukomalacia-like brain injury in neonatal rats. Inflamm Regen. 2017.01; 37 1. ( 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 )

Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Kenji Kurosawa, Kenichi Kashimada, Tomohiro Morio: A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty. Horm Res Paediatr. 2017.01; 87 (4): 217-216. ( PubMed , DOI )

Neuroprotective effects of human umbilical cord-derived mesenchymal stem cells on periventricular leukomalacia-like brain injury in neonatal rats 2017.01;

Takagi M, Ishiwata Y, Aoki Y, Miyamoto S, Hoshino A, Matsumoto K, Nishimura A, Tanaka M, Yanagimachi M, Mitsuiki N, Imai K, Kanegane H, Kajiwara M, Takikawa K, Mae T, Tomita O, Fujimura J, Yasuhara M, Tomizawa D, Mizutani S, Morio T.: HLA haploidentical hematopoietic cell transplantation using clofarabine and busulfan for refractory pediatric hematological malignancy. Int J Hematol.. 2017;

Katsutsugu Umeda, Souichi Adachi, Shiro Tanaka, Mizuka Miki, Keiko Okada, Yoshiko Hashii, Masami Inoue, Yuko Cho, Katsuyoshi Koh, Hiroaki Goto, Ryosuke Kajiwara, Nobuyuki Hyakuna, Koji Kato, Tomohiro Morio, Hiromasa Yabe, : Comparison of second transplantation and donor lymphocyte infusion for donor mixed chimerism after allogeneic stem cell transplantation for nonmalignant diseases. Pediatr Blood Cancer. 2016.12; 63 (12): 2221-2229. ( PubMed , DOI )

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 )

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. 2016.11; 7 56. ( 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 )

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 )

Shumpei Yokota, Yasuhiko Itoh, Tomohiro Morio, Hideki Origasa, Naokata Sumitomo, Minako Tomobe, Kunihiko Tanaka, Seiji Minota: Tocilizumab in systemic juvenile idiopathic arthritis in a real-world clinical setting: results from 1 year of postmarketing surveillance follow-up of 417 patients in Japan. Ann. Rheum. Dis.. 2016.10; 75 (9): 1654-1660. ( 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 )

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 )

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 )

Hirohito Shima, Toshiaki Tanaka, Tsutomu Kamimaki, Sumito Dateki, Koji Muroya, Reiko Horikawa, Junko Kanno, Masanori Adachi, Yasuhiro Naiki, Hiroyuki Tanaka, Hiroyo Mabe, Hideaki Yagasaki, Shigeo Kure, Yoichi Matsubara, Toshihiro Tajima, Kenichi Kashimada, Tomohiro Ishii, Yumi Asakura, Ikuma Fujiwara, Shun Soneda, Keisuke Nagasaki, Takashi Hamajima, Susumu Kanzaki, Tomoko Jinno, Tsutomu Ogata, Maki Fukami, : Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. J. Hum. Genet.. 2016.07; 61 (7): 585-591. ( 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 )

Takasawa K, Miyakawa Y, Masamune A, Kashimada K, Shimohira M: Fibrocalculous pancreatic diabetes in a Japanese girl with severe motor and intellectual disabilities. Acta Diabetologica. 2016.06; 53 (3): 507-510. ( PubMed , DOI )

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 )

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 )

Masakatsu Yanagimachi, Takashi Ohya, Tomoko Yokosuka, Ryosuke Kajiwara, Fumiko Tanaka, Hiroaki Goto, Takehiro Takashima, Tomohiro Morio, Shumpei Yokota: The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome. J. Clin. Immunol.. 2016.04; 36 (5): 511-516. ( 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: Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype: an international survey of 274 patients from 167 kindreds. Blood. 2016.04; 127 (25): 3154-3164. ( 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 )

T Muto, Y Takeda, S Tsukamoto, S Sakai, N Mimura, C Ohwada, M Takeuchi, E Sakaida, S Ota, T Iseki, N Shimizu, T Morio, C Nakaseko: Successful treatment of cytomegalovirus enteritis after unrelated allogeneic stem cell transplantation by the infusion of ex vivo-expanded CD4(+) lymphocytes derived from the recipient's peripheral blood donor cells. Transpl Infect Dis. 2016.02; 18 (1): 93-97. ( 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 )

A Arai, C Sakashita, C Hirose, K-I Imadome, M Yamamoto, M Jinta, S Fujiwara, M Tomita, N Shimizu, T Morio, O Miura: Hematopoietic stem cell transplantation for adults with EBV-positive T- or NK-cell lymphoproliferative disorders: efficacy and predictive markers. Bone Marrow Transplant.. 2016.02; 51 (6): 879-882. ( 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 )

Yumiko Nakano, Takeshi Hayashi, Kentaro Deguchi, Kota Sato, Nozomi Hishikawa, Toru Yamashita, Yasuyuki Ohta, Yoshiki Takao, Tomohiro Morio, Koji Abe: Two young stroke patients associated with regular intravenous immunoglobulin (IVIg) therapy. J. Neurol. Sci.. 2016.02; 361 9-12. ( 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 )

Laura Gámez-Díaz, Dietrich August, Polina Stepensky, Shoshana Revel-Vilk, Markus G Seidel, Mitsuiki Noriko, Tomohiro Morio, Austen J J Worth, Jacob Blessing, Frank Van de Veerdonk, Tobias Feuchtinger, Maria Kanariou, Annette Schmitt-Graeff, Sophie Jung, Suranjith Seneviratne, Siobhan Burns, Bernd H Belohradsky, Nima Rezaei, Shahrzad Bakhtiar, Carsten Speckmann, Michael Jordan, Bodo Grimbacher: The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J. Allergy Clin. Immunol.. 2016.01; 137 (1): 223-230. ( 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 )

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 )

Tomohiro Kohmoto, Atsumi Tsuji, Kei-Ichi Morita, Takuya Naruto, Kiyoshi Masuda, Kenichi Kashimada, Keisuke Enomoto, Tomohiro Morio, Hiroyuki Harada, Issei Imoto: A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. Hum Genome Var. 2016; 3 16003. ( PubMed , DOI )

Kotaro Kai, Maki Sumida, Yaeko Motoyoshi, Yuichi Ogawa, Katsuyuki Miki, Kazuhiro Iwadoh, Akihito Sannomiya, Toru Murakami, Ichiro Koyama, Kumiko Kitajima, Ichiro Nakajima, Tomohiro Morio, Shohei Fuchinoue: Successful Long-term Graft Survival of a Renal Transplantation Patient with Wiskott-Aldrich Syndrome. Intern. Med.. 2016; 55 (13): 1761-1763. ( PubMed , DOI )

Atsumi Tsuji, Kaoru Konishi, Satomi Hasegawa, Akira Anazawa, Toshikazu Onishi, Makoto Ono, Tomohiro Morio, Teruo Kitagawa, Kenichi Kashimada: Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study. BMC Pediatr. 2015.12; 15 (1): 209. ( PubMed , DOI )

遠藤彰,吉川俊輔,大友康裕,森尾友宏: 重症敗血症・敗血症性ショックにおける好中球機能の変化の検討 バイオメディカル. 2015.12; 25 2-8. ( 医中誌 )

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 )

Keisuke Nakajima, Shinobu Hirai, Tomohiro Morio, Haruo Okado: Benzodiazepines induce sequelae in immature mice with inflammation-induced status epilepticus. Epilepsy Behav. 2015.10; 52 (Pt A): 180-186. ( PubMed , DOI )

Rieko Takatani, Masanori Minagawa, Angelo Molinaro, Monica Reyes, Kaori Kinoshita, Tomozumi Takatani, Itsuro Kazukawa, Misako Nagatsuma, Kenichi Kashimada, Kenichi Sato, Kazuyuki Matsushita, Fumio Nomura, Naoki Shimojo, Harald Jüppner: Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). Bone. 2015.10; 79 15-20. ( 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 )

Takao Hayakawa, Takashi Aoi, Christopher Bravery, Karin Hoogendoorn, Ivana Knezevic, Junichi Koga, Daisuke Maeda, Akifumi Matsuyama, James McBlane, Tomohiro Morio, John Petricciani, Mahendra Rao, Anthony Ridgway, Daisaku Sato, Yoji Sato, Glyn Stacey, Norihisa Sakamoto, Jean-Hugues Trouvin, Akihiro Umezawa, Masayuki Yamato, Kazuo Yano, Hiroyuki Yokote, Kentaro Yoshimatsu, Pierrette Zorzi-Morre: Report of the international conference on regulatory endeavors towards the sound development of human cell therapy products. Biologicals. 2015.09; 43 (5): 283-297. ( 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 )

Tomoya Muto, Chikako Ohwada, Atsuko Yamazaki, Yasumasa Sugita, Shokichi Tsukamoto, Shio Sakai, Yusuke Takeda, Naoya Mimura, Masahiro Takeuchi, Emiko Sakaida, Tohru Iseki, Norio Shimizu, Tomohiro Morio, Chiaki Nakaseko: Long-term complete remission by infusion of ex vivo-expanded donor-derived CD4(+) lymphocytes for treating an early relapse of Hodgkin lymphoma after cord blood transplantation. Leuk. Lymphoma. 2015.05; 1-11. ( 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 )

Yohei Matsubara, Tomoko Kato, Kenichi Kashimada, Hiromitsu Tanaka, Zhou Zhi, Shizuko Ichinose, Shuki Mizutani, Tomohiro Morio, Tomoki Chiba, Yoshiaki Ito, Yumiko Saga, Shuji Takada, Hirhoshi Asahara: TALEN-mediated gene disruption on Y Chromosome reveals Critical Role of EIF2S3Y in Mouse Spermatogenesis. Stem Cells Dev.. 2015.05; 24 (10): 1164-1170. ( 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 )

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 )

Go Matsuda, Ken-Ichi Imadome, Fuyuko Kawano, Masashi Mochizuki, Nakaba Ochiai, Tomohiro Morio, Norio Shimizu, Shigeyoshi Fujiwara: Cellular immunotherapy with ex vivo expanded cord blood T cells in a humanized mouse model of EBV-associated lymphoproliferative disease. Immunotherapy. 2015.04; 7 (4): 335-341. ( PubMed , DOI )

Shumpei Yokota, Yasuhiko Itoh, Tomohiro Morio, Naokata Sumitomo, Kaori Daimaru, Seiji Minota: Macrophage Activation Syndrome in Patients with Systemic Juvenile Idiopathic Arthritis under Treatment with Tocilizumab. J. Rheumatol.. 2015.04; 42 (4): 712-722. ( PubMed , DOI )

Tamaki Kato, Elena Crestani, Chikako Kamae, Kenichi Honma, Tomoko Yokosuka, Takeshi Ikegawa, Naonori Nishida, Hirokazu Kanegane, Taizo Wada, Akihiro Yachie, Osamu Ohara, Tomohiro Morio, Luigi D Notarangelo, Kohsuke Imai, Shigeaki Nonoyama: RAG1 Deficiency May Present Clinically as Selective IgA Deficiency. J. Clin. Immunol.. 2015.04; 35 (3): 280-288. ( PubMed , DOI )

Noriko Mitsuiki, Xi Yang, Sophinus J W Bartol, Christina Grosserichter-Wagener, Yoshiyuki Kosaka, Hidetoshi Takada, Kohsuke Imai, Hirokazu Kanegane, Shuki Mizutani, Mirjam van der Burg, Menno C van Zelm, Osamu Ohara, Tomohiro Morio: Mutations in Bruton's tyrosine kinase impair IgA responses. Int. J. Hematol.. 2015.03; 101 (3): 305-313. ( PubMed , DOI )

Yukako Kawasaki, Masami Makimoto, Keiko Nomura, Akihiro Hoshino, Takeru Hamashima, Mitsuteru Hiwatari, Atsuko Nakazawa, Junko Takita, Taketoshi Yoshida, Hirokazu Kanegane: Neonatal acute megakaryoblastic leukemia mimicking congenital neuroblastoma. Clin Case Rep. 2015.03; 3 (3): 145-149. ( PubMed , DOI )

Kanako Mitsui-Sekinaka, Kohsuke Imai, Hiroki Sato, Daisuke Tomizawa, Michiko Kajiwara, Masayuki Nagasawa, Tomohiro Morio, Shigeaki Nonoyama: Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan. J. Allergy Clin. Immunol.. 2015.03; 136 (4): 1018-1024. ( PubMed , DOI )

Akihiro Hoshino, Yusuke Okuno, Masahiro Migita, Hideki Ban, Xi Yang, Nobutaka Kiyokawa, Yuichi Adachi, Seiji Kojima, Osamu Ohara, Hirokazu Kanegane: X-linked agammaglobulinemia associated with B-precursor acute lymphoblastic leukemia. J. Clin. Immunol.. 2015.02; 35 (2): 108-111. ( 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 )

Takahara T, Shimizu M, Nakagishi Y, Kinjo N, Yachie A: Serum IL-18 as a potential specific marker for differentiating systemic juvenile idiopathic arthritis from incomplete Kawasaki disease. Rheumatology international. 2015.01; 35 (1): 81-4. ( PubMed , DOI )

Risa Nomura, Kentaro Miyai, Michiyo Okada, Michiko Kajiwara, Makoto Ono, Tsutomu Ogata, Iichiro Onishi, Mana Sato, Masaki Sekine, Takumi Akashi, Shuki Mizutani, Kenichi Kashimada: A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads. Clin Pediatr Endocrinol. 2015.01; 24 (1): 11-14. ( PubMed , DOI )

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 )

Kenichi Kashimada, Tomohiro Ishii, Keisuke Nagasaki, Makoto Ono, Toshihiro Tajima, Ichiro Yokota, Yukihiro Hasegawa: Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children. Endocr. J.. 2015; 62 (3): 277-282. ( 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 )

Tomohito Takimoto, Hidetoshi Takada, Masataka Ishimura, Makiko Kirino, Kenichiro Hata, Osamu Ohara, Tomohiro Morio, Toshiro Hara: Wiskott-Aldrich Syndrome in a Girl Caused by Heterozygous WASP Mutation and Extremely Skewed X-Chromosome Inactivation: A Novel Association with Maternal Uniparental Isodisomy 6. Neonatology. 2015; 107 (3): 185-190. ( PubMed , DOI )

N Nishida, X Yang, I Takasaki, K Imai, K Kato, Y Inoue, T Imamura, R Miyashita, F Kato, A Yamaide, M Mori, S Saito, J Hara, Y Adachi, T Miyawaki, H Kanegane: Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation. J Investig Allergol Clin Immunol. 2015; 25 (3): 205-213. ( PubMed )

Kentaro Miyai, Toshikazu Onishi, Kenichi Kashimada, Yukihiro Hasegawa: Urinary calcium to creatinine ratio: a potential marker of secondary hyperparathyroidism in patients with vitamin D-dependent rickets type 1A. Endocr. J.. 2015; 62 (1): 61-68. ( 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 )

Tae-Yoon Park, Sung-Dong Park, Jen-Young Cho, Jae-Seung Moon, Na-Yeon Kim, Kyungsoo Park, Rho Hyun Seong, Sang-Won Lee, Tomohiro Morio, Alfred L M Bothwell, Sang-Kyou Lee: RORγt-specific transcriptional interactomic inhibition suppresses autoimmunity associated with TH17 cells. Proc. Natl. Acad. Sci. U.S.A.. 2014.12; 111 (52): 18673-18678. ( 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 )

Yasuhiro Yamazaki, Masafumi Yamada, Toshinao Kawai, Tomohiro Morio, Masafumi Onodera, Masahiro Ueki, Nobuyuki Watanabe, Hidetoshi Takada, Shunichiro Takezaki, Natsuko Chida, Ichiro Kobayashi, Tadashi Ariga: Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. J. Immunol.. 2014.11; 193 (10): 4880-4887. ( PubMed , DOI )

Masaaki Mori, Masafumi Onodera, Akira Morimoto, Yoshiyuki Kosaka, Tomohiro Morio, Gerard F Notario, Shringi Sharma, Tsutomu Saji: Palivizumab use in Japanese infants and children with immunocompromised conditions. Pediatr. Infect. Dis. J.. 2014.11; 33 (11): 1183-1185. ( PubMed , DOI )

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 )

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 )

Masaaki Mori, Tomohiro Morio, Shuichi Ito, Akira Morimoto, Setsuo Ota, Koichi Mizuta, Tsutomu Iwata, Toshiro Hara, Tsutomu Saji: Risks and prevention of severe RS virus infection among children with immunodeficiency and Down's syndrome. J. Infect. Chemother.. 2014.08; 20 (8): 455-459. ( 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 )

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 )

Shin Fukuda, Toshihiro Nanki, Tomohiro Morio, Hisanori Hasegawa, Ryuji Koike, Nobuyuki Miyasaka: Recurrent mitral valve regurgitation with neutrophil infiltration in a patient with multiple aseptic abscesses. Mod Rheumatol. 2014.05; 24 (3): 537-539. ( PubMed , DOI )

Udagawa T, Motoyoshi Y, Matsumura Y, Takei A, Ariji S, Ito E, Chiga M, Nagasawa M, Morio T, Mizutani S: Effect of eculizumab and recombinant human soluble thrombomodulin combination therapy in a 7-year-old girl with atypical hemolytic uremic syndrome due to anti-factor H autoantibodies. CEN case reports. 2014.05; 3 (1): 110-117. ( 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 )

Beatriz E Marciano, Chiung-Yu Huang, Gyan Joshi, Nima Rezaei, Beatriz Costa Carvalho, Zoe Allwood, Aydan Ikinciogullari, Shereen M Reda, Andrew Gennery, Vojtech Thon, Francisco Espinosa-Rosales, Waleed Al-Herz, Oscar Porras, Anna Shcherbina, Anna Szaflarska, Şebnem Kiliç, Jose L Franco, Andrea C Gómez Raccio, Persio Roxo, Isabel Esteves, Nermeen Galal, Anete Sevciovic Grumach, Salem Al-Tamemi, Alisan Yildiran, Julio C Orellana, Masafumi Yamada, Tomohiro Morio, Diana Liberatore, Yoshitoshi Ohtsuka, Yu-Lung Lau, Ryuta Nishikomori, Carlos Torres-Lozano, Juliana T L Mazzucchelli, Maria M S Vilela, Fabiola S Tavares, Luciana Cunha, Jorge A Pinto, Sara E Espinosa-Padilla, Leticia Hernandez-Nieto, Reem A Elfeky, Tadashi Ariga, Heike Toshio, Figen Dogu, Funda Cipe, Renata Formankova, M Enriqueta Nuñez-Nuñez, Liliana Bezrodnik, Jose Gonçalo Marques, María I Pereira, Viviana Listello, Mary A Slatter, Zohreh Nademi, Danuta Kowalczyk, Thomas A Fleisher, Graham Davies, Bénédicte Neven, Sergio D Rosenzweig: BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies. J. Allergy Clin. Immunol.. 2014.04; 133 (4): 1134-1141. ( PubMed , DOI )

Shigeyoshi Fujiwara, Hiroshi Kimura, Ken-ichi Imadome, Ayako Arai, Eiichi Kodama, Tomohiro Morio, Norio Shimizu, Hiroshi Wakiguchi: Current research on chronic active Epstein-Barr virus infection in Japan. Pediatr Int. 2014.04; 56 (2): 159-166. ( PubMed , DOI )

Alexander Quinn, Kenichi Kashimada, Tara-Lynne Davidson, Ee Ting Ng, Kallayanee Chawengsaksophak, Josephine Bowles, Peter Koopman: A site-specific, single-copy transgenesis strategy to identify 5' regulatory sequences of the mouse testis-determining gene Sry. PLoS ONE. 2014.04; 9 (4): e94813. ( 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 )

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 )

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 )

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 )

Yohei Matsubara, Tomoki Chiba, Kenichi Kashimada, Tomohiro Morio, Shuji Takada, Shuki Mizutani, Hiroshi Asahara: Transcription activator-like effector nuclease-mediated transduction of exogenous gene into IL2RG locus. Sci Rep. 2014; 4 5043. ( PubMed , DOI )

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 )

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 )

Satoru Kumaki, Yoji Sasahara, Yoshiro Kamachi, Hideki Muramatsu, Tomohiro Morio, Kumiko Goi, Kanji Sugita, Tomonari Urabe, Hidetoshi Takada, Seiji Kojima, Shigeru Tsuchiya, Toshirou Hara: B-cell function after unrelated umbilical cord blood transplantation using a minimal-intensity conditioning regimen in patients with X-SCID. Int. J. Hematol.. 2013.09; 98 (3): 355-360. ( PubMed , DOI )

Sunao Sugita, Manabu Ogawa, Norio Shimizu, Tomohiro Morio, Nobuyuki Ohguro, Kei Nakai, Kazuichi Maruyama, Kenji Nagata, Atsunobu Takeda, Yoshihiko Usui, Koh-Hei Sonoda, Masaru Takeuchi, Manabu Mochizuki: Use of a comprehensive polymerase chain reaction system for diagnosis of ocular infectious diseases. Ophthalmology. 2013.09; 120 (9): 1761-1768. ( 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 )

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.. 2013.09; 60 (2): 149-154. ( PubMed )

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 )

Susumu Hosokawa, Go Haraguchi, Akihito Sasaki, Hirokuni Arai, Susumu Muto, Akiko Itai, Shozaburo Doi, Shuki Mizutani, Mitsuaki Isobe: Pathophysiological roles of nuclear factor kappaB (NF-kB) in pulmonary arterial hypertension: effects of synthetic selective NF-kB inhibitor IMD-0354. Cardiovasc. Res.. 2013.07; 99 (1): 35-43. ( 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 )

Taizo Wada, Masahiro Muraoka, Tomoko Toma, Tsuyoshi Imai, Tomonari Shigemura, Kazunaga Agematsu, Kohei Haraguchi, Hiroyuki Moriuchi, Tsutomu Oh-Ishi, Toshiyuki Kitoh, Osamu Ohara, Tomohiro Morio, Akihiro Yachie: Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease. J. Clin. Immunol.. 2013.05; 33 (4): 857-864. ( 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 )

Tae-Yoon Park, Seung-Hyung Kim, Yoon-Chul Shin, Nae-Hyun Lee, Rae-Kyung Christina Lee, Jae-Hyuck Shim, Laurie H Glimcher, Inhee Mook-Jung, Eunji Cheong, Won-Ki Kim, Fumiko Honda, Tomohiro Morio, Jong-Soon Lim, Sang-Kyou Lee: Amelioration of neurodegenerative diseases by cell death-induced cytoplasmic delivery of humanin. J Control Release. 2013.03; 166 (3): 307-315. ( 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 )

Chie Miyabe, Yoshishige Miyabe, Noriko N Miura, Kei Takahashi, Yuya Terashima, Etsuko Toda, Fumiko Honda, Tomohiro Morio, Naoko Yamagata, Naohito Ohno, Koichi Shudo, Jun-ichi Suzuki, Mitsuaki Isobe, Kouji Matsushima, Ryoji Tsuboi, Nobuyuki Miyasaka, Toshihiro Nanki: Am80, a retinoic acid receptor agonist, ameliorates murine vasculitis through the suppression of neutrophil migration and activation. Arthritis Rheum.. 2013.02; 65 (2): 503-512. ( 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 )

Ito S, Kamei K, Ogura M, Udagawa T, Fujinaga S, Saito M, Sako M, Iijima K: Survey of rituximab treatment for childhood-onset refractory nephrotic syndrome. Pediatric nephrology (Berlin, Germany). 2013.02; 28 (2): 257-64. ( 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 )

Zen Kobayashi, Miho Akaza, Yoshiyuki Numasawa, Shoichiro Ishihara, Hiroyuki Tomimitsu, Kazuo Nakamichi, Masayuki Saijo, Tomohiro Morio, Norio Shimizu, Nobuo Sanjo, Shuzo Shintani, Hidehiro Mizusawa: Failure of mefloquine therapy in progressive multifocal leukoencephalopathy: report of two Japanese patients without human immunodeficiency virus infection. J. Neurol. Sci.. 2013.01; 324 (1-2): 190-194. ( 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 )

Yamamoto A, Morio T, Kumaki E, Yamazaki H, Iwai H, Kubota T, Miyasaka N, Kohsaka H: A Case of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome Accompanied by Nephrosclerosis, Splenomegaly and Intestinal Lesions. J Genet Syndr Gene Ther. . 2013; 4 e9.

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 )

Udagawa T, Kamei K, Ogura M, Tsutsumi A, Noda S, Kasahara M, Fukuda A, Sakamoto S, Shigeta S, Tanaka H, Kuroda T, Matsuoka K, Nakazawa A, Nagai T, Uemura O, Ito S: Sequential liver-kidney transplantation in a boy with congenital hepatic fibrosis and nephronophthisis from a living donor. Pediatric transplantation. 2012.11; 16 (7): E275-80. ( 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.

Yoshiko Uchida, Kousaku Matsubara, Tamaki Wada, Kazunori Oishi, Tomohiro Morio, Hidetoshi Takada, Aya Iwata, Kazuo Yura, Katsunori Kamimura, Hiroyuki Nigami, Takashi Fukaya: Recurrent bacterial meningitis by three different pathogens in an isolated asplenic child. J. Infect. Chemother.. 2012.08; 18 (4): 576-580. ( 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.

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.. 2012.07; 59 (11): 1001-1006. ( PubMed )

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 )

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 )

Yoshiko Uchida, Kousaku Matsubara, Tomohiro Morio, Yu Kawasaki, Aya Iwata, Kazuo Yura, Katsunori Kamimura, Hiroyuki Nigami, Takashi Fukaya: Acute cerebellitis and concurrent encephalitis associated with parvovirus B19 infection. Pediatr. Infect. Dis. J.. 2012.04; 31 (4): 427. ( PubMed , DOI )

Keisuke Nakajima, Masaharu Hayashi, Naoyuki Tanuma, Tomohiro Morio: An autopsy case of polymicrogyria and intracerebral calcification with death by intracerebral hemorrhage. Neuropathology. 2012.04; 32 (2): 207-210. ( 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 )

Noda S, Ogura M, Tsutsumi A, Udagawa T, Kamei K, Matsuoka K, Kitamura H, Atsumi T, Ito S: Thrombotic microangiopathy due to multiple autoantibodies related to antiphospholipid syndrome. Pediatric nephrology (Berlin, Germany). 2012.04; 27 (4): 681-5. ( 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 )

Rikiya Sato, Susumu Iiizumi, Eun-Sung Kim, Fumiko Honda, Sang-Kyou Lee, Noritaka Adachi, Hideki Koyama, Shuki Mizutani, Tomohiro Morio: Impaired cell adhesion, apoptosis, and signaling in WASP gene-disrupted Nalm-6 pre-B cells and recovery of cell adhesion using a transducible form of WASp. Int. J. Hematol.. 2012.03; 95 (3): 299-310. ( 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 )

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 )

Sang-Won Lee, Ji-Hye Kim, Min-Chan Park, Yong-Beom Park, Wook Jin Chae, Tomohiro Morio, Dong-Ho Lee, Sang-Hwa Yang, Seung-Kyou Lee, Soo-Kon Lee, Sang-Kyou Lee: Alleviation of rheumatoid arthritis by cell-transducible methotrexate upon transcutaneous delivery. Biomaterials. 2012.02; 33 (5): 1563-1572. ( PubMed , DOI )

Sung Hee Jang, Joo Weon Lim, Tomohiro Morio, Hyeyoung Kim: Lycopene inhibits Helicobacter pylori-induced ATM/ATR-dependent DNA damage response in gastric epithelial AGS cells. Free Radic. Biol. Med.. 2012.02; 52 (3): 607-615. ( PubMed , DOI )

Kotoka Nakamura, Liutao Du, Rashmi Tunuguntla, Francesca Fike, Simona Cavalieri, Tomohiro Morio, Shuki Mizutani, Alfredo Brusco, Richard A Gatti: Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. Hum. Mutat.. 2012.01; 33 (1): 198-208. ( 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 )

Masataka Ishimura, Hidetoshi Takada, Takehiko Doi, Kousuke Imai, Yoji Sasahara, Hirokazu Kanegane, Ryuta Nishikomori, Tomohiro Morio, Toshio Heike, Masao Kobayashi, Tadashi Ariga, Shigeru Tsuchiya, Shigeaki Nonoyama, Toshio Miyawaki, Toshiro Hara: Nationwide survey of patients with primary immunodeficiency diseases in Japan. J. Clin. Immunol.. 2011.12; 31 (6): 968-976. ( PubMed , DOI )

Keisuke Kato, Yasuko Kojima, Chie Kobayashi, Kazumasa Mitsui, Ryoko Nakajima-Yamaguchi, Kazuko Kudo, Toshihiro Yanai, Ai Yoshimi, Tomohei Nakao, Tomohiro Morio, Mureo Kasahara, Kazutoshi Koike, Masahiro Tsuchida: Successful allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease with inflammatory complications and severe infection. Int. J. Hematol.. 2011.11; 94 (5): 479-482. ( 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 )

Kenichi Kashimada, Terje Svingen, Chun-Wei Feng, Emanuele Pelosi, Stefan Bagheri-Fam, Vincent R Harley, David Schlessinger, Josephine Bowles, Peter Koopman: Antagonistic regulation of Cyp26b1 by transcription factors SOX9/SF1 and FOXL2 during gonadal development in mice. FASEB J.. 2011.10; 25 (10): 3561-3569. ( 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 )

Ken-ichi Imadome, Misako Yajima, Ayako Arai, Atsuko Nakazawa, Fuyuko Kawano, Sayumi Ichikawa, Norio Shimizu, Naoki Yamamoto, Tomohiro Morio, Shouichi Ohga, Hiroyuki Nakamura, Mamoru Ito, Osamu Miura, Jun Komano, Shigeyoshi Fujiwara: Novel mouse xenograft models reveal a critical role of CD4+ T cells in the proliferation of EBV-infected T and NK cells. PLoS Pathog.. 2011.10; 7 (10): e1002326. ( PubMed , DOI )

Ito S, Kamei K, Ogura M, Sato M, Fujimaru T, Ishikawa T, Udagawa T, Iijima K: Maintenance therapy with mycophenolate mofetil after rituximab in pediatric patients with steroid-dependent nephrotic syndrome. Pediatric nephrology (Berlin, Germany). 2011.10; 26 (10): 1823-8. ( 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 )

Tomohiro Morio, Yoshiko Atsuta, Daisuke Tomizawa, Tokiko Nagamura-Inoue, Koji Kato, Tadashi Ariga, Keisei Kawa, Kazutoshi Koike, Hisamichi Tauchi, Michiko Kajiwara, Toshiro Hara, Shunichi Kato, : Outcome of unrelated umbilical cord blood transplantation in 88 patients with primary immunodeficiency in Japan. Br. J. Haematol.. 2011.08; 154 (3): 363-372. ( 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 )

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 )

Kenichi Kashimada, Emanuele Pelosi, Huijun Chen, David Schlessinger, Dagmar Wilhelm, Peter Koopman: FOXL2 and BMP2 act cooperatively to regulate follistatin gene expression during ovarian development. Endocrinology. 2011.01; 152 (1): 272-280. ( 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 )

Udagawa T, Kamei K, Ogura M, Tsutsumi A, Noda S, Kasahara M, Fukuda A, Sakamoto S, Shigeta S, Tanaka H, Kuroda T, Matsuoka K, Nakazawa A, Nagai T, Uemura O, Ito S.: Sequential liver-kidney transplantation in a boy with congenital hepatic fibrosis and nephronophthisis from a living donor. pediatric transplantation. 2011; Nov 30. ([Epub ahead of print]): ( 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 )

Kenichi Kashimada, Peter Koopman: Sry: the master switch in mammalian sex determination. Development. 2010.12; 137 (23): 3921-3930. ( 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 )

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 )

Min-Jung Shin, Jae-Hyuck Shim, Jae-Young Lee, Wook-Jin Chae, Heung-Kyu Lee, Tomohiro Morio, Jun Han Park, Eun-Ju Chang, Sang-Kyou Lee: Qualitative and quantitative differences in the intensity of Fas-mediated intracellular signals determine life and death in T cells. Int. J. Hematol.. 2010.09; 92 (2): 262-270. ( 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 )

Mitsuru Seki, Hirokazu Kimura, Akio Mori, Akira Shimada, Yoshiyuki Yamada, Kenichi Maruyama, Yasuhide Hayashi, Kazunaga Agematsu, Tomohiro Morio, Akihiro Yachie, Masahiko Kato: Prominent eosinophilia but less eosinophil activation in a patient with Omenn syndrome. Pediatr Int. 2010.08; 52 (4): e196-e199. ( 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 )

Hirosuke Inoue, Hidetoshi Takada, Takeshi Kusuda, Takako Goto, Masayuki Ochiai, Tadamune Kinjo, Jun Muneuchi, Yasushi Takahata, Naomi Takahashi, Tomohiro Morio, Kenjiro Kosaki, Toshiro Hara: Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism. Eur. J. Pediatr.. 2010.07; 169 (7): 839-844. ( PubMed , DOI )

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 )

Fumihiko Takizawa, Kenichi Kashimada, Keisuke Enomoto, Kentaro Miyai, Makoto Ono, Goro Asada, Junichi Shimizu, Shuki Mizutani: Two preterm infants with late onset circulatory collapse induced by levothyroxine sodium. Pediatr Int. 2010.06; 52 (3): e154-e157. ( 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 )

Okamoto K, Iwai Y, Oh-Hora M, Yamamoto M, Morio T, Aoki K, Ohya K, Jetten AM, Akira S, Muta T, Takayanagi H: IkappaBzeta regulates T(H)17 development by cooperating with ROR nuclear receptors. Nature. 2010.04; 464 (7293): 1381-1385. ( PubMed , DOI )

Masaru Miyanaga, Sunao Sugita, Norio Shimizu, Tomohiro Morio, Kazunori Miyata, Kazuichi Maruyama, Shigeru Kinoshita, Manabu Mochizuki: A significant association of viral loads with corneal endothelial cell damage in cytomegalovirus anterior uveitis. Br J Ophthalmol. 2010.03; 94 (3): 336-340. ( PubMed , DOI )

Yoichi Morinishi, Kohsuke Imai, Noriko Nakagawa, Hiroki Sato, Katsuyuki Horiuchi, Yoshitoshi Ohtsuka, Yumi Kaneda, Takashi Taga, Hiroaki Hisakawa, Ryosuke Miyaji, Mikiya Endo, Tsutomu Oh-Ishi, Yoshiro Kamachi, Koshi Akahane, Chie Kobayashi, Masahiro Tsuchida, Tomohiro Morio, Yoji Sasahara, Satoru Kumaki, Keiko Ishigaki, Makoto Yoshida, Tomonari Urabe, Norimoto Kobayashi, Yuri Okimoto, Janine Reichenbach, Yoshiko Hashii, Yoichiro Tsuji, Kazuhiro Kogawa, Seiji Yamaguchi, Hirokazu Kanegane, Toshio Miyawaki, Masafumi Yamada, Tadashi Ariga, Shigeaki Nonoyama: Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J. Pediatr.. 2009.12; 155 (6): 829-833. ( PubMed , DOI )

Daiichiro Hasegawa, Michiko Kaji, Hiroki Takeda, Keiichiro Kawasaki, Hironobu Takahashi, Hiroshi Ochiai, Tomohiro Morio, Yasuhiro Omori, Hiroshi Yokozaki, Yoshiyuki Kosaka: Fatal degeneration of specialized cardiac muscle associated with chronic active Epstein-Barr virus infection. Pediatr Int. 2009.12; 51 (6): 846-848. ( 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 )

Yoshitaka Miyagawa, Nobutaka Kiyokawa, Nakaba Ochiai, Ken-ichi Imadome, Yasuomi Horiuchi, Keiko Onda, Misako Yajima, Hiroyuki Nakamura, Yohko U Katagiri, Hajime Okita, Tomohiro Morio, Norio Shimizu, Junichiro Fujimoto, Shigeyoshi Fujiwara: Ex vivo expanded cord blood CD4 T lymphocytes exhibit a distinct expression profile of cytokine-related genes from those of peripheral blood origin. Immunology. 2009.11; 128 (3): 405-419. ( 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 )

Hisao Yoshida, Shigenori Kusuki, Yoshiko Hashii, Hideaki Ohta, Tomohiro Morio, Keiichi Ozono: Ex vivo-expanded donor CD4(+) lymphocyte infusion against relapsing neuroblastoma: A transient graft-versus-tumor effect. Pediatr Blood Cancer. 2009.07; 52 (7): 895-897. ( PubMed , DOI )

Naomi Takahashi, Kenji Matsumoto, Hirohisa Saito, Toshihiro Nanki, Nobuyuki Miyasaka, Tetsuji Kobata, Miyuki Azuma, Sang-Kyou Lee, Shuki Mizutani, Tomohiro Morio: Impaired CD4 and CD8 effector function and decreased memory T cell populations in ICOS-deficient patients. J. Immunol.. 2009.05; 182 (9): 5515-5527. ( 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 )

所正治, Hussein Amjad I.A., 田中身和, 山口智博, 森尾友宏, 佐藤隆介, 水谷修紀: 免疫低下に伴うMAC感染症に合併した呼吸器クリプトスポリジウム症の1例 Clinical Parasitology. 2009.02; 19 (1): 55-58. ( 医中誌 )

Toshihiro Nanki, Kazuki Takada, Yukiko Komano, Tomohiro Morio, Hirokazu Kanegane, Atsuo Nakajima, Peter E Lipsky, Nobuyuki Miyasaka: Chemokine receptor expression and functional effects of chemokines on B cells: implication in the pathogenesis of rheumatoid arthritis. Arthritis Res. Ther.. 2009; 11 (5): R149. ( PubMed , DOI )

Yuri Futagami, Sunao Sugita, Takuro Fujimaki, Toshiyuki Yokoyama, Tomohiro Morio, Manabu Mochizuki: Bilateral anterior granulomatous keratouveitis with sunset glow fundus in a patient with autoimmune polyglandular syndrome. Ocul. Immunol. Inflamm.. 2009; 17 (2): 88-90. ( PubMed , DOI )

T Svingen, C M Spiller, K Kashimada, V R Harley, P Koopman: Identification of suitable normalizing genes for quantitative real-time RT-PCR analysis of gene expression in fetal mouse gonads. Sex Dev. 2009; 3 (4): 194-204. ( PubMed , DOI )

Kenichi Kashimada, Tae Omori, Fumihiko Takizawa, Shuki Mizutani: Two cases of transient pseudohypoaldosteronism due to group B streptococcus pyelonephritis. Pediatr. Nephrol.. 2008.09; 23 (9): 1569-1570. ( 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 )

S Sugita, N Shimizu, K Watanabe, M Mizukami, T Morio, Y Sugamoto, M Mochizuki: Use of multiplex PCR and real-time PCR to detect human herpes virus genome in ocular fluids of patients with uveitis. Br J Ophthalmol. 2008.07; 92 (7): 928-932. ( PubMed , DOI )

Koichi Suzuki, Koji Tsugawa, Eishin Oki, Tomohiro Morio, Etsuro Ito, Hiroshi Tanaka: Vesical varices and telangiectasias in a patient with ataxia telangiectasia. Pediatr. Nephrol.. 2008.06; 23 (6): 1005-1008. ( PubMed , DOI )

Yujin Shibayama, Tatsuya Higashi, Kazutake Shimada, Ken-Ichi Kashimada, Toshikazu Onishi, Makoto Ono, Kentaro Miyai, Shuki Mizutani: Liquid chromatography-tandem mass spectrometric method for determination of salivary 17alpha-hydroxyprogesterone: a noninvasive tool for evaluating efficacy of hormone replacement therapy in congenital adrenal hyperplasia. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci.. 2008.05; 867 (1): 49-56. ( PubMed , DOI )

Kenichi Kashimada, Makoto Ono, Toshikazu Onishi, Satimi Koyama, Takio Toyoura, Kazuhide Imai, Sumitaka Saisho, Shuki Mizutani: Clinical course of patients with nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in infancy and childhood. Endocr. J.. 2008.05; 55 (2): 397-404. ( PubMed )

S Kido, S Sugita, S Horie, M Miyanaga, K Miyata, N Shimizu, T Morio, M Mochizuki: Association of varicella zoster virus load in the aqueous humor with clinical manifestations of anterior uveitis in herpes zoster ophthalmicus and zoster sine herpete. Br J Ophthalmol. 2008.04; 92 (4): 505-508. ( PubMed , DOI )

Masahiro Shinohara, Takako Koga, Kazuo Okamoto, Shinya Sakaguchi, Kimiko Arai, Hisataka Yasuda, Toshiyuki Takai, Tatsuhiko Kodama, Tomohiro Morio, Raif S Geha, Daisuke Kitamura, Tomohiro Kurosaki, Wilfried Ellmeier, Hiroshi Takayanagi: Tyrosine kinases Btk and Tec regulate osteoclast differentiation by linking RANK and ITAM signals. Cell. 2008.03; 132 (5): 794-806. ( PubMed , DOI )

Daiichiro Hasegawa, Masako Fukushima, Yuki Hosokawa, Hiroki Takeda, Keiichiro Kawasaki, Tomoyuki Mizukami, Hiroyuki Nunoi, Hiroshi Ochiai, Tomohiro Morio, Yoshiyuki Kosaka: Successful treatment of chronic granulomatous disease with fludarabine-based reduced-intensity conditioning and unrelated bone marrow transplantation. Int. J. Hematol.. 2008.01; 87 (1): 88-90. ( PubMed , DOI )

Sayaka Yamamoto, Sunao Sugita, Yoshiharu Sugamoto, Norio Shimizu, Tomohiro Morio, Manabu Mochizuki: Quantitative PCR for the detection of genomic DNA of Epstein-Barr virus in ocular fluids of patients with uveitis. Jpn. J. Ophthalmol.. 2008; 52 (6): 463-467. ( 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 )

Tomohiro Morio, Hyeyoung Kim: Ku, Artemis, and ataxia-telangiectasia-mutated: signalling networks in DNA damage. Int. J. Biochem. Cell Biol.. 2008; 40 (4): 598-603. ( PubMed , DOI )

Ken-ichi Kashimada, Toshikazu Onishi, Makoto Ono, Kentaro Miyai, Masayasu Ohta, Shuki Mizutani: A boy with "transient" growth hormone deficiency in prepubertal stage despite normal growth hormone secretion in childhood and after puberty. Endocr. J.. 2007.12; 54 (6): 1015-1019. ( PubMed )

Isoda T, Ito S, Kajiwara M, Nagasawa M: Successful high-dose methotrexate chemotherapy in a patient with acute lymphocytic leukemia who developed acute renal failure during the initial treatment. Pediatr Int. 2007.12; 49 (6): 1018-1019. ( PubMed , DOI )

Morio T: Strategy to Combat Opportunistic Infections after Umbilical Cord Blood Transplantation (UCBT) - Monitoring of Multiple Pathogens with a Novel Multiplex PCR System and Infusion of Ex-vivo Expanded CD4 T-Cells (CD4-DLI). Biol Blood Marrow Tr. . 2007.11; 13 (11): 1400-1401.

Sunao Sugita, Norio Shimizu, Tastushi Kawaguchi, Nobuaki Akao, Tomohiro Morio, Manabu Mochizuki: Identification of human herpesvirus 6 in a patient with severe unilateral panuveitis. Arch. Ophthalmol.. 2007.10; 125 (10): 1426-1427. ( 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 )

H Okamoto, C Arii, F Shibata, T Toma, T Wada, M Inoue, Y Tone, Y Kasahara, S Koizumi, Y Kamachi, Y Ishida, J Inagaki, M Kato, T Morio, A Yachie: Clonotypic analysis of T cell reconstitution after haematopoietic stem cell transplantation (HSCT) in patients with severe combined immunodeficiency. Clin. Exp. Immunol.. 2007.06; 148 (3): 450-460. ( PubMed , DOI )

C Tono, Y Takahashi, K Terui, S Sasaki, T Kamio, S Tandai, T Sato, K Kudo, T Toki, N Tachibana, T Yoshioka, T Nakahata, T Morio, R Nishikomori, E Ito: Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen. Bone Marrow Transplant.. 2007.06; 39 (12): 801-804. ( PubMed , DOI )

Kumiko Ohnuma-Ishikawa, Tomohiro Morio, Takayuki Yamada, Yuji Sugawara, Makoto Ono, Masayuki Nagasawa, Akio Yasuda, Chikao Morimoto, Kei Ohnuma, Nam H Dang, Hajime Hosoi, Eric Verdin, Shuki Mizutani: Knockdown of XAB2 enhances all-trans retinoic acid-induced cellular differentiation in all-trans retinoic acid-sensitive and -resistant cancer cells. Cancer Res.. 2007.02; 67 (3): 1019-1029. ( PubMed , DOI )

Satoru Watanabe, Kazuo Terashima, Shinrai Ohta, Shigeo Horibata, Misako Yajima, Yoko Shiozawa, M Zahidunnabi Dewan, Zhong Yu, Mamoru Ito, Tomohiro Morio, Norio Shimizu, Mitsuo Honda, Naoki Yamamoto: Hematopoietic stem cell-engrafted NOD/SCID/IL2Rgamma null mice develop human lymphoid systems and induce long-lasting HIV-1 infection with specific humoral immune responses. Blood. 2007.01; 109 (1): 212-218. ( 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 )

Jong Hwa Lee, Kyung Hwan Kim, Tomohiro Morio, Hyeyoung Kim: Ataxia-telangiectasia-mutated-dependent activation of Ku in human fibroblasts exposed to hydrogen peroxide. Ann. N. Y. Acad. Sci.. 2006.12; 1091 76-82. ( PubMed , DOI )

Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, Kaneko H, Kondo N, Tsuge I, Yachie A, Sakiyama Y, Iwata T, Bessho F, Ohishi T, Joh K, Imai K, Kogawa K, Shinohara M, Fujieda M, Wakiguchi H, Pasic S, Abinun M, Ochs HD, Renner ED, Jansson A, Belohradsky BH, Metin A, Shimizu N, Mizutani S, Miyawaki T, Nonoyama S, Karasuyama H: 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 )

Shinichiro Y Koga, Satoru Kumaki, Ryo Ichinohasama, Mitsutoshi Munakata, Kazuhiro Haginoya, Yoshiyuki Ohashi, Yoshiko Tanaka, Osamu Sakamoto, Masayoshi Minegishi, Tomohiro Morio, Kazuie Iinuma, Shigeru Tsuchiya: The first infant case with hepatosplenic gammadelta T-cell lymphoma after acute disseminated encephalomyelitis (ADEM)-like exacerbation. J. Pediatr. Hematol. Oncol.. 2006.11; 28 (11): 741-745. ( PubMed , DOI )

Ryoji Kobayashi, Tadashi Ariga, Shigeaki Nonoyama, Hirokazu Kanegane, Shigeru Tsuchiya, Tomohiro Morio, Hiromasa Yabe, Yoshihisa Nagatoshi, Keisei Kawa, Ken Tabuchi, Masahiro Tsuchida, Toshio Miyawaki, Shunichi Kato: Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan. Br. J. Haematol.. 2006.11; 135 (3): 362-366. ( PubMed , DOI )

Masahiko Kato, Hirokazu Kimura, Mitsuru Seki, Akira Shimada, Yasuhide Hayashi, Tomohiro Morio, Satoru Kumaki, Yasushi Ishida, Yoshiro Kamachi, Akihiro Yachie: Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. Allergol Int. 2006.06; 55 (2): 115-119. ( 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 )

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 )

Kohsuke Imai, Mitsunobu Shimadzu, Takeo Kubota, Tomohiro Morio, Takeshi Matsunaga, Young-Dong Park, Akira Yoshioka, Shigeaki Nonoyama: Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG. Biochim. Biophys. Acta. 2006.03; 1762 (3): 335-340. ( PubMed , DOI )

Jae-Ho Chang, Soo-Ki Kim, In-Hong Choi, Sang-Kyou Lee, Tomohiro Morio, Eun-Ju Chang: Apoptosis of macrophages induced by Trichomonas vaginalis through the phosphorylation of p38 mitogen-activated protein kinase that locates at downstream of mitochondria-dependent caspase activation. Int. J. Biochem. Cell Biol.. 2006; 38 (4): 638-647. ( PubMed , DOI )

Daisuke Tomizawa, Yuki Aoki, Masayuki Nagasawa, Tomohiro Morio, Michiko Kajiwara, Teruaki Sekine, Norio Shimizu, Masahiko Kato, Akihiro Yachie, Shuki Mizutani: Novel adopted immunotherapy for mixed chimerism after unrelated cord blood transplantation in Omenn syndrome. Eur. J. Haematol.. 2005.11; 75 (5): 441-444. ( 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 )

Motohiko Okano, Keisei Kawa, Hiroshi Kimura, Akihiro Yachie, Hiroshi Wakiguchi, Akihiko Maeda, Shosuke Imai, Shouichi Ohga, Hirokazu Kanegane, Shigeru Tsuchiya, Tomohiro Morio, Masaaki Mori, Shumpei Yokota, Shinsaku Imashuku: Proposed guidelines for diagnosing chronic active Epstein-Barr virus infection. Am. J. Hematol.. 2005.09; 80 (1): 64-69. ( 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 )

Ji Hoon Yu, Joo Weon Lim, Kyung Hwan Kim, Tomohiro Morio, Hyeyoung Kim: NADPH oxidase and apoptosis in cerulein-stimulated pancreatic acinar AR42J cells. Free Radic. Biol. Med.. 2005.09; 39 (5): 590-602. ( PubMed , DOI )

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.

Kohsuke Imai, Yi Zhu, Patrick Revy, Tomohiro Morio, Shuki Mizutani, Alain Fischer, Shigeaki Nonoyama, Anne Durandy: 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. ( PubMed , DOI )

Ling Chen, Tomohiro Morio, Yoshiyuki Minegishi, Shin-Ichiro Nakada, Masayuki Nagasawa, Kenshi Komatsu, Luciana Chessa, Anna Villa, Daniele Lecis, Domenico Delia, Shuki Mizutani: Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage. Cancer Sci.. 2005.02; 96 (2): 134-141. ( PubMed , DOI )

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 )

Yoshikazu Ohtsuka, Toshiaki Shimizu, Kyoko Nishizawa, Risako Ohtaki, Tomonosuke Someya, Atsuko Noguchi, Naoto Shimura, Hyoiru Kim, Harunori Sugimoto, Hiroo Fujita, Tomohiro Morio, Yuichiro Yamashiro: Successful engraftment and decrease of cytomegalovirus load after cord blood stem cell transplantation in a patient with DiGeorge syndrome. Eur. J. Pediatr.. 2004.12; 163 (12): 747-748. ( PubMed , DOI )

Jae-Ho Chang, Yong-Suk Ryang, Tomohiro Morio, Sang-Kyou Lee, Eun-Ju Chang: Trichomonas vaginalis inhibits proinflammatory cytokine production in macrophages by suppressing NF-kappaB activation. Mol. Cells. 2004.10; 18 (2): 177-185. ( PubMed )

Wook-Jin Chae, Heung-Kyu Lee, Jin-Hwan Han, Sang-Won Vincent Kim, Alfred L M Bothwell, Tomohiro Morio, Sang-Kyou Lee: Qualitatively differential regulation of T cell activation and apoptosis by T cell receptor zeta chain ITAMs and their tyrosine residues. Int. Immunol.. 2004.09; 16 (9): 1225-1236. ( PubMed , DOI )

N Shihara, Y Horikawa, T Onishi, M Ono, K Kashimada, J Takeda: Identification of a new case of hepatocyte nuclear factor-1beta mutation with highly varied phenotypes. Diabetologia. 2004.06; 47 (6): 1128-1129. ( 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 )

Masayuki Nagasawa, Daisuke Tomizawa, Youichirou Tsuji, Michiko Kajiwara, Tomohiro Morio, Shigeaki Nonoyama, Minoru Asada, Shuki Mizutani: Pancytopenia presenting with monosomy 7 which disappeared after immunosuppressive therapy. Leuk. Res.. 2004.03; 28 (3): 315-319. ( PubMed )

Masayuki Nagasawa, Sukeyuki Itoh, Yasuyuki Sawada, Tomohiro Morio, Shigeaki Nonoyama, Shuki Mizutani: Coagulopathy in a patient with X-linked hyper-IgM syndrome who developed Kaposi's sarcoma. Am. J. Hematol.. 2004.02; 75 (2): 116-117. ( PubMed , DOI )

Noriko Shimasaki, Tetsuya Mori, Hiroyuki Shimada, Mayumi Sugita, Masataka Higuchi, Makio Mukai, Tomohiro Morio, Shinichiro Okamoto: Epstein-Barr virus-associated posttransplant lymphoproliferative disorder after a cord blood stem cell transplantation presenting with pulmonary nodules. J. Pediatr. Hematol. Oncol.. 2004.02; 26 (2): 124-127. ( PubMed )

Kohsuke Imai, Tomohiro Morio, Yi Zhu, Yinzhu Jin, Sukeyuki Itoh, Michiko Kajiwara, Jun-Ichi Yata, Shuki Mizutani, Hans D Ochs, Shigeaki Nonoyama: Clinical course of patients with WASP gene mutations. Blood. 2004.01; 103 (2): 456-464. ( PubMed , DOI )

Eiji Nakashima, Akihiko Mabuchi, Kenichi Kashimada, Toshikazu Onishi, Junwei Zhang, Hirofumi Ohashi, Gen Nishimura, Shiro Ikegawa: RMRP mutations in Japanese patients with cartilage-hair hypoplasia. Am. J. Med. Genet. A. 2003.12; 123A (3): 253-256. ( 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 )

Ji Yeon Song, Joo Weon Lim, Hyeyoung Kim, Tomohiro Morio, Kyung Hwan Kim: Oxidative stress induces nuclear loss of DNA repair proteins Ku70 and Ku80 and apoptosis in pancreatic acinar AR42J cells. J. Biol. Chem.. 2003.09; 278 (38): 36676-36687. ( PubMed , DOI )

Yu Zhang, Hiroshi Nagata, Tatsuro Ikeuchi, Hiroyuki Mukai, Michiko K Oyoshi, Ayako Demachi, Tomohiro Morio, Hiroshi Wakiguchi, Nobuhiro Kimura, Norio Shimizu, Kohtaro Yamamoto: Common cytological and cytogenetic features of Epstein-Barr virus (EBV)-positive natural killer (NK) cells and cell lines derived from patients with nasal T/NK-cell lymphomas, chronic active EBV infection and hydroa vacciniforme-like eruptions. Br. J. Haematol.. 2003.06; 121 (5): 805-814. ( PubMed )

Masako Imai, Shuki Mizutani, Tomohiro Morio: Coordinated regulation of the promoter and enhancer regions of human CD23 gene by signal through IL-4R and CD40, and the role of Ku70/80 in the enhancer activity. J. Med. Dent. Sci.. 2003.06; 50 (2): 155-165. ( PubMed )

Michiko K Oyoshi, Hiroshi Nagata, Nobuhiro Kimura, Yu Zhang, Ayako Demachi, Toshiro Hara, Hirokazu Kanegane, Yoshinobu Matsuo, Tomohiro Yamaguchi, Tomohiro Morio, Atsuyoshi Hirano, Norio Shimizu, Kohtaro Yamamoto: Preferential Expansion of Vγ9-JγP/Vδ2-Jδ3 γδ T Cells in Nasal T-Cell Lymphoma and Chronic Active Epstein-Barr Virus Infection. Am. J. Pathol.. 2003.05; 162 (5): 1629-1638. ( PubMed )

Yi Zhu, Shigeaki Nonoyama, Tomohiro Morio, Masamichi Muramatsu, Tasuku Honjo, Shuki Mizutani: Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase. J. Med. Dent. Sci.. 2003.03; 50 (1): 41-46. ( PubMed )

Hiroshi Kimura, Tsuneo Morishima, Hirokazu Kanegane, Shouichi Ohga, Yo Hoshino, Akihiko Maeda, Shosuke Imai, Motohiko Okano, Tomohiro Morio, Shumpei Yokota, Shigeru Tsuchiya, Akihiro Yachie, Shinsaku Imashuku, Keisei Kawa, Hiroshi Wakiguchi, : Prognostic factors for chronic active Epstein-Barr virus infection. J. Infect. Dis.. 2003.02; 187 (4): 527-533. ( PubMed , DOI )

Ayako Demachi, Hiroshi Nagata, Tomohiro Morio, Michiko K Oyoshi, Yu Zhang, Nobuko Tabata, Nobuhiro Kimura, Norio Shimizu, Kohtaro Yamamoto: Characterization of Epstein-Barr virus (EBV)-positive NK cells isolated from hydroa vacciniforme-like eruptions. Microbiol. Immunol.. 2003; 47 (7): 543-552. ( PubMed )

K Kashimada, T Yamashita, K Tsuji, A Nifuji, S Mizutani, Y Nabeshima, M Noda: Defects in growth and bone metabolism in klotho mutant mice are resistant to GH treatment. J. Endocrinol.. 2002.09; 174 (3): 403-410. ( PubMed )

Jae-Hyuck Shim, Heung-Kyu Lee, Eun-Ju Chang, Wook-Jin Chae, Jin-Hwan Han, Duck-Jong Han, Tomohiro Morio, Jung-Jin Yang, Alfred Bothwell, Sang-Kyou Lee: Immunosuppressive effects of tautomycetin in vivo and in vitro via T cell-specific apoptosis induction. Proc. Natl. Acad. Sci. U.S.A.. 2002.08; 99 (16): 10617-10622. ( PubMed , DOI )

Toshikazu Onishi, Hajime Takei, Akira Kambegawa, Sumitaka Saisho, Kenichi Kashimada, Satomi Koyama, Shuki Mizutani, Pemmaraju N Rao: A highly specific heterologous enzyme immunoassay for 5 alpha-androstane-3 alpha, 17 beta-diol 17-glucuronide (androstanediol-17G) and developmental patterns of urinary androstanediol-17G excretions. Steroids. 2002.03; 67 (3-4): 175-183. ( PubMed )

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 )

T Yamashita, I Sekiya, N Kawaguchi, K Kashimada, A Nifuji, Y I Nabeshima, M Noda: Klotho-deficient mice are resistant to bone loss induced by unloading due to sciatic neurectomy. J. Endocrinol.. 2001.02; 168 (2): 347-351. ( 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 )

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 )

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 )

T Morio, S H Hanissian, L B Bacharier, H Teraoka, S Nonoyama, M Seki, J Kondo, H Nakano, S K Lee, R S Geha, J Yata: Ku in the cytoplasm associates with CD40 in human B cells and translocates into the nucleus following incubation with IL-4 and anti-CD40 mAb. Immunity. 1999.09; 11 (3): 339-348. ( PubMed )

K Imai, S Nonoyama, H Miki, T Morio, K Fukami, Q Zhu, A Aruffo, H D Ochs, J Yata, T Takenawa: 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. ( PubMed , DOI )

S Nonoyama, S Tsukada, T Yamadori, T Miyawaki, Y Z Jin, C Watanabe, T Morio, J Yata, H D Ochs: Functional analysis of peripheral blood B cells in patients with X-linked agammaglobulinemia. J. Immunol.. 1998.10; 161 (8): 3925-3929. ( PubMed )

T Morio, T Chatila, R S Geha: HIV glycoprotein gp120 inhibits TCR-CD3-mediated activation of fyn and lck. Int. Immunol.. 1997.01; 9 (1): 53-64. ( PubMed )

K Kawabata, M Nagasawa, T Morio, H Okawa, J Yata: Decreased alpha/beta heterodimer among CD8 molecules of peripheral blood T cells in Wiskott-Aldrich syndrome. Clin. Immunol. Immunopathol.. 1996.11; 81 (2): 129-135. ( PubMed )

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鹿島田健一: 先天性副腎過形成の新生児マススクリーニング実施成績 東京都予防医学協会2024版. 2024.04; 53 149-152.

鹿島田健一: 子どもの身長 月刊　母子保健. 2024.04; (780): 8-9.

酢谷明人,鹿島田健一: 性分化異常 参加と婦人科　増刊号. 2024.03; 91 190-196.

佐藤薫、鹿島田健一: 性分化疾患のガイドラインに基づく対応と考え方 小児内科. 2024.02; 56 (2): 209-214.

鹿島田健一、桐野玄: 体細胞分化転換機構から解明する性の多様性と性分化疾患の病態 細胞. 2024.01; 56 (1): 66-69. ( 医中誌 )

鹿島田健一: 性分化疾患とは 小児外科. 2023.12; 55 (12): 1264-1269.

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.

鹿島田健一: 特集　成長曲線を書こう　Ⅰ.成長曲線 改めて考える,い,ろ,は　成長の”しくみ” 小児科診療. 2023.11; 86 (11): 21-27. ( DOI , 医中誌 )

鹿島田健一: 序文　成長曲線を書こう 小児科診療. 2023.11; 86 (11): 1283.

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 )

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 )

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.

渡辺和弘, 鹿島田健一 : 液体クロマトグラフィー質量分析法を用いた２１水酸化酵素欠損症スクリーニングアルゴリズムの作成 日本マス・スクリーニング学会誌. 2023.06; 33 (1): 9-18.

鹿島田健一: 【時間の流れと産婦人科生物学-早すぎること,遅すぎること,長すぎること,短かすぎること-】時間の流れと生殖内分泌学　思春期早発症 産科と婦人科. 2023.05; 90 (5): 486-493.

鹿島田健一: 治療法の再整理とアップデートのために　専門家による私の治療　家族性高コレステロール血症(小児) 日本医事新報. 2023.05; 5170 50-51. ( 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; ( PubMed , DOI )

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.

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.

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 )

森尾友宏: PFAPA症候群 ドクターサロン. 2023.02; 67 (3): 151-154.

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 )

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: 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 小児リウマチ. 2022.12; 31 (1): 43-47.

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.

鈴木康之,宮入烈,足立壯一,清水俊明,高村昭輝,土井庄三郎,西屋克己,松原知代,三浦健一郎,吉川哲史,大田千晴,嶋岡鋼,森尾友宏,森岡一朗,和田和子,高橋尚人,日本小児科学会専門医制度運営委員会: 小児科専門医の職責・貢献・勤務実態に関する調査研究報告(第1報)　ウェブアンケート集計結果 日本小児科学会雑誌. 2022.11; 126 (11): 1557-1569.

鈴木康之,宮入烈,足立壯一,清水俊明,高村昭輝,土井庄三郎,西屋克己,松原知代,三浦健一郎,吉川哲史,大田千晴,嶋岡鋼,森尾友宏,森岡一朗,和田和子,高橋尚人,日本小児科学会専門医制度運営委員会: 小児科専門医の職責・貢献・勤務実態に関する調査研究報告(第2報)　小児科専門医の全国動態 日本小児科学会雑誌. 2022.11; 126 (11): 1570-1580.

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.

鹿島田健一: これからの移行期医療を考える　疾患別移行期医療の取り組み～これからの移行期医療を考えるうえで 小児科診療. 2022.10; 85 (秋増刊): 210-215.

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.

西村 聡, 高木 正稔: 小児血液腫瘍疾患に対する新規解析手法　シングルセルRNAシークエンスの活用と展望　がん細胞の不均一性の解明を目指して 日本小児血液・がん学会雑誌. 2022.10; 59 (3): 219-223. ( 医中誌 )

森尾友宏: 【自己免疫疾患　層別化する新時代へ　臨床検体のマルチオミクス解析、腸内細菌によって見えてきた免疫経路の全容】(第1章)精密医療を目指したマルチオミクス解析によるアプローチ　遺伝性免疫疾患研究から展開する精密医療 実験医学. 2022.09; 40 (15): 2401-2407.

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.

鹿島田健一: 21-水酸化酵素欠損症の診断・治療ガイドライン(2021年改訂版)解説 糖尿病・内分泌代謝科. 2022.09; 55 (3): 372-378.

中川竜一, 鹿島田健一: マウスを用いた経時的エンハンサーRNA解析による卵巣体細胞特異的エンハンサー候補領域および疾患感受性領域の同定 日本生殖内分泌学会雑誌. 2022.09; 27 18-23.

柏木菜緒,村越未希,小笠原啓祐,山崎勇大,金森透,宇田川智宏,森尾友宏: 免疫グロブリン製剤投与後に血小板減少と貧血をきたしたステロイド抵抗性ネフローゼ症候群の1例 日本小児腎不全学会雑誌. 2022.08; 42 159-162.

森尾友宏: 感染症における免疫　自然免疫,獲得免疫とのその持続 臨床検査. 2022.08; 66 898-904. ( DOI , 医中誌 )

神谷尚宏, 森尾友宏: 【小児医療の最先端】臨床編　造血細胞移植後の日和見感染症に対する複数ウイルス特異的T細胞療法 2022.07; 282 (5): 435-440.

山下基, 森尾友宏: 先天性免疫異常症におけるAIOLOS変異 臨床免疫・アレルギー科. 2022.07; 78 (1): 98-103.

岩山秀之, 河原幸平, 北川幸子, 松下希美, 加藤翔子, 小田嶋貴之, 齊藤拓也, 鹿島田健一, 高木潤子, 金子健一朗, 奥村彰久: 腹腔鏡手術中に索状性腺および痕跡子宮が発見されターナー症候群と診断された1例 小児科臨床. 2022.06; 75 (3): 449-452.

岡野翼, 森尾友宏: 炎症・免疫制御におけるゲノム編集(ゲノム医療)(第6回)　炎症・自己免疫をきたすsomatic mutationとその遺伝子改変 炎症と免疫. 2022.06; 30 (4): 356-360.

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 )

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.

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 )

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 )

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 )

桐野玄, 安達恵利子, 我有茉希, 中谷久恵, 金森透, 宇田川智宏, 高澤啓, 森崇寧, 蘇原映誠, 内田信一, 鹿島田健一, 森尾友宏: WT1 Zinc Finger domain 4 病的多型によ る46,XXDSD 世界初の家系例 日本内分泌学会雑誌. 2022.04; 98 (1): 402. ( 医中誌 )

中谷久恵, 鹿島田健一: 【こんなときどうする?他科とのコミュニケーションガイド】(第1章) 新生児科・小児科・新生児外科　性分化疾患(DSD)およびTurner症候群 産科と婦人科. 2022.03; 89 Suppl. 103-108.

鹿島田健一: 先天性副腎過形成の新生児マススクリーニング実施成績 東京都予防医学協会年報 2022年版 . 2022.03; 51 141-145.

若月良介, 真保麻実, 安達恵利子, 金森透, 山崎晋, 宇田川智宏, 高澤啓, 清水正樹, 鹿島田健一, 森雅亮, 森尾友宏: 萎縮性甲状腺炎を合併した全身性エリテマトーデスの 1 例 日本小児科学会雑誌. 2022.03; 126 (3): 557. ( 医中誌 )

田中里奈, 金森透, 宇田川智宏, 鹿島田健一, 高澤啓, 安達恵利 子, 岸野充浩, 長妻美沙子, 田中絵里子, 森尾友宏: 線状脂腺母斑症候群を背景とした腎血管性高血圧症に 対し経皮的腎動脈形成術を施行した1 例 日本小児科学会雑誌. 2022.03; 126 (3): 559. ( 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.

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 )

森尾友宏: 【夜明けを迎えたヒト免疫学　臨床検体からヒトの免疫応答機構の実態を知り、疾患制御に挑む】先天性免疫異常症から見えるヒト免疫と病気の成り立ち 実験医学. 2022.01; 40 (1): 21-28.

西村聡,森尾友宏: 先天性造血不全症の病態と治療 血液内科. 2022.01; 84 (1): 43-49.

家村綾正, 鹿島田健一: 【周産期のステロイド】臨床編　新生児　先天性副腎過形成に対するステロイド療法 周産期医学. 2022.01; 52 (1): 101-104.

西村 聡, 森尾 友宏: 【赤血球系疾患診療の最近の進歩】先天性造血不全症の病態と治療 血液内科. 2022.01; 84 (1): 43-49. ( 医中誌 )

桐野玄, 鹿島田健一: 【小児疾患診療のための病態生理2　改訂第6版】内分泌疾患　性分化疾患 小児内科. 2021.12; 53 (増刊号): 454-461.

相田知海,森尾友宏: 炎症・免疫制御におけるゲノム編集(ゲノ炎症・免疫制御におけるゲノム編集(ゲノム医療)(第3回)　ゲノム編集2.0時代の精密遺伝子治療ム医療)(第3回)　ゲノム編集2.0時代の精密遺伝子治療 炎症と免疫. 2021.12; 30 (1): 93-98.

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 )

森尾友宏: 再生医療への期待～各疾患領域における現況と展望～ Pharma Medica. 2021.12; 39 (12): 7.

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.

鹿島田健一: 【内分泌疾患・糖尿病・代謝疾患-診療のエッセンス】(I章)内分泌疾患　主要内分泌疾患　性腺疾患、内分泌腫瘍、受容体異常症　性腺機能低下症 日本医師会雑誌. 2021.10; 150 (特別号(2)): 135-137.

森尾友宏: 感染症にかかったときの私たちの免疫応答　カビ、最近、ウイルス(SARS-CoV-2) 病児保育研究　12号別冊. 2021.10; (12): 1-5. ( 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 )

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.

鹿島田健一: 21-水酸化酵素欠損症の新生児マススクリーニングの今後について 日本マススクリーニング学会誌. 2021.05; 31 (1): 11-19. ( 医中誌 )

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 )

森尾友宏: 原発性免疫不全症　研究と治療の最前線 感染・炎症・免疫. 2021.04; 51 (1): 67-69.

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.

安達恵利子, 鹿島田健一: 【各病態における輸液の考え方：電解質異常】 低Na血症，高Na血症 小児内科. 2021.04; 53 (4): 545-550. ( 医中誌 )

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 )

森尾友宏: 乳幼児の発熱とホームケア 母子保健. 2021.03; 743 1-3.

坂本昌,長村敏,松裏裕,泉裕之,竹田津原野,山本英一,神薗淳司,平本龍吾,高橋勉,森尾友宏,小林正夫,楠原浩一,竹島泰弘,日本小児科学会小児救急委員会: 未就学児の家庭内入浴時の溺水トラブルに関するアンケート調査結果 日本小児科学会雑誌. 2021.03; 125 (3): 534-539.

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.

森尾友宏: 家族性地中海熱 ドクターサロン. 2021.02; 65 161-164.

森尾友宏: 第20回日本再生医療学会総会にあたって　再生医療学会20年の歩み 再生医療. 2021.02; 20

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.

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.

鹿島田健一: 先天性副腎過形成症の新生児マススクリーニングの現状とその課題 日本小児科学会雑誌. 2021.01; 125 (1): 11-23. ( 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.

神谷尚宏,森尾友宏: 造血細胞移植後ウイルス感染症とウイルス特異的T細胞療法 臨床血液. 2021; 62 (8): 1334-1342.

森尾友宏: 【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総論　原発性免疫不全症候群　総論 日本臨床. 2020.12; 78 (7): 11-18.

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 )

西村 聡, 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　ATP6AP1欠損症 日本臨床. 2020.12; 78 (増刊7 原発性免疫不全症候群): 206-209. ( 医中誌 )

友田昴宏,神谷尚宏,森尾友宏: 【ウイルス感染と血液疾患】造血細胞移植後のウイルス感染に対するウイルス特異的T細胞療法 血液内科. 2020.11; 81 (5): 688-694.

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 )

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 )

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 )

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 )

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 )

棚橋祐典, 鈴木滋, 鹿島田健一, 向井徳男, 勝又規行, 石井智弘, 田島敏広, 長谷川奉延: 本邦における21水酸化酵素欠損症の予後調査 日本内分泌学会雑誌. 2020.07; 96 Suppl. 107-110. ( 医中誌 )

山下基: 【研修医と指導医に贈る　小児科学研究・論文のススメ】活躍する小児科physician-scientistsの研究　大学院生編　大学院での研究生活 小児科診療. 2020.07; 83 (7): 913-918. ( 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 )

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.

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 )

齋藤洋子, 鹿島田健一: 【[必携]専攻医と指導医のための新生児診療到達目標】疾患別到達目標　代謝内分泌疾患　先天性副腎過形成症 周産期医学. 2020.04; 50 (4): 684-687. ( 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 )

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 )

山下基,森尾友宏: 【変わりつつある免疫不全症】免疫不全症の診断　免疫不全症の国際分類up-to-date 小児科診療. 2020.03; 83 (3): 287-298.

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.

山下基, 森尾友宏: 【変わりつつある免疫不全症】免疫不全症の診断　免疫不全症の国際分類up-to-date 小児科診療. 2020.03; 83 (3): 287-298. ( 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 )

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 )

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 )

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 )

森尾友宏: <循環器疾患診療の最前線(Ⅵ)>　選択的IgA欠損症 ドクターサロン. 2019.09; 63 (9): 27-31.

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 )

中谷久恵, 鹿島田健一: 【小児外来:どう診るか、どこまで診るか】新生児、乳児、先天異常　非典型的外性器の診察(性分化疾患) 小児科臨床. 2019.08; 72 (増刊): 1077-1083. ( 医中誌 )

森尾友宏: 特集＜Clinical Science＞システム臨床免疫学　序 炎症と免疫. 2019.08; 27 (5): 36.

野村莉紗, 鹿島田健一: 胎生期卵巣におけるNR5A1/Ad4BP/SF1の転写抑制は Notchシグナルを介した卵巣発生の最適化に必要である 日本生殖内分泌学会雑誌. 2019.08; 24 18-23. ( 医中誌 )

山下基,森尾友宏: 【小児科医に必要な免疫の知識】総論　免疫系を構成する細胞・細胞亜群とその機能　B細胞 小児内科. 2019.08; 51 (8): 1081-1084. ( 医中誌 )

岡野翼,森尾友宏: 【小児科医に必要な免疫の知識】総論　免疫系を構成する細胞・細胞亜群とその機能　樹状細胞とマクロファージ 小児内科. 2019.08; 51 (8): 1095-1098. ( 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 )

山下 基, 森尾 友宏: 【小児科医に必要な免疫の知識】総論　免疫系を構成する細胞・細胞亜群とその機能　B細胞 小児内科. 2019.08; 51 (8): 1081-1084. ( 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.

森尾友宏: 原発性免疫不全症候群-最近の話題1 新しい国際分類(IUIS2017)について 小児科. 2019.08; 60 (9): 1221-1227.

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 )

大川哲平,森尾友宏: 【Down症候群の医療管理】医療管理　易感染性の管理 小児内科. 2019.06; 51 (6): 828-832.

鹿島田健一: いま知りたい!!♂と♀で割りきれない　ヒトの性の多様性と連続性　性スペクトラムから考える哺乳類性腺発生の分子機構 実験医学. 2019.06; 37 (9): 1438-1442. ( 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.

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 )

岡田潔,佐藤陽治,田端泰彦,畠賢一郎,森尾友宏,八代嘉美: ナショナルコンソーシアムとは何か? 再生医療. 2019.05; 18 (2): 125-133.

岡本健太郎,伊藤佳史,水野裕貴,四手井綱則,勝屋恭子,青木龍,森丘千夏子,滝敦子,森尾友宏,宮坂尚幸: 新生児期発症の胃食道逆流症に対する漢方薬の使用経験 産婦人科漢方研究のあゆみ. 2019.05; 36 39-43.

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.

我有茉希, 鹿島田健一: 【小児の負荷試験2019】 副腎皮質系機能検査　メトピロン(メチラポン)負荷試験 小児内科. 2019.04; 51 (4): 461-464. ( 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 )

牧浦亜紀子,森山剣光,横山はるな,馬場信平,森尾友宏: 幼児期より、自閉スペクトラム症としてフォローされていたグルコーストランスポーター1欠損症の1例 小児科臨床. 2019.03; 72 (3): 287-292.

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, 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. ( 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.

西村 聡, 平林 真介, 山本 俊亮, 相賀 咲央莉, 西谷 美佐, 細谷 要介, 森 慎一郎, 長谷川 大輔, 真部 淳: Diamond-Blackfan貧血に対する強度減弱前処置を用いた骨髄移植 日本小児血液・がん学会雑誌. 2019.01; 55 (5): 432-435. ( 医中誌 )

森尾友宏: 巻頭言 基礎研究の重要性 再生医療. 2019; 18 115.

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 )

森尾友宏: 原発性免疫不全症の全生涯診療-希少疾患の診療体制構築- 別冊　医学のあゆみ. 2019; 41-46.

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 )

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;

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 )

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 )

岡本圭祐,森尾友宏: 【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　核酸シグナル異常によるI型インターフェロン症 医学のあゆみ. 2018.12; 267 (9): 696-702.

中川竜一, 鹿島田健一: 21ー水酸化酵素欠損症の遺伝子解析 日本マススクリーニング学会誌. 2018.12; 28 (3): 277-283. ( 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.

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. ( 医中誌 )

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 )

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 )

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.

小西恵理,神田祥一郎,赤嶺陽子,伊藤友弥,惠谷ゆり,鹿島田健一,島津智之,島袋林秀,武内俊樹,土畠智幸,奈倉道明,福與なおみ,松島卓哉,村上てるみ,堤裕幸,宮田章子,永田智,森尾友宏,将来の小児科医を考える委員会: 日本小児科学会将来の小児科医を考える委員会報告　学術集会における将来の小児科医を考える委員会の活動に関する報告 日本小児科学会雑誌. 2018.11; 122 (11): 1768-1771.

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 )

熊木恵里,森尾友宏: 狭義の自己炎症性疾患　PAPA(化膿性関節炎・壊疽性膿皮症・アクネ)症候群とその類縁疾患 日本臨床. 2018.10; 76 (10): 1770-1776. ( 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 )

森尾友宏: 腫瘍ウイルスと細胞内の遺伝物質の相互作用に関する発見-逆転写酵素の発見- 小児内科. 2018.09; 50 (9): 1458-1461.

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 )

橋元由紀子, 山内建, 高澤啓, 前田佳真, 土井庄三郎, 鹿島田健一, 森尾友宏: 肝機能障害を契機にホモ接合性家族性低βリポ蛋白血症の診断に至った1例 日本小児科学会雑誌. 2018.08; 122 (8): 1386. ( 医中誌 )

井上健斗,森尾友宏: 【予防接種アップグレード】 二次性免疫不全(ステロイドや免疫抑制薬使用中、造血細胞移植後)の児に対するワクチン 小児内科. 2018.08; 50 (8): 1223-1227.

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 )

小西薫, 橋本敦子, 間下充子, 世良保美, 鹿島田健一: 早産児における先天性副腎過形成スクリーニングの判定基準の検討 予防医学ジャーナル. 2018.07; 501 38-40.

森尾友宏: 原発性免疫不全症の全生涯診療-希少疾患の診療体性構築 医学のあゆみ. 2018.07; 266 (3): 243-248.

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.

野本憲,山上英臣,三上修,近藤達郎,森尾友宏: 診療情報を使用したダウン症候群児のRSウイルス感染重症化リスク因子の疫学研究 Progress in Medicine. 2018.05; 38 (5): 531-536.

畠賢一郎,岡田潔,黒田良祐,佐藤陽治,田端泰彦,森尾友宏: わが国における再生医療臨床研究の現状と課題-臨床研究をスムーズに進めるための学会の果たすべき役割- 再生医療. 2018.05; 17 (2): 19-27.

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.

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 )

森尾友宏: 【神経疾患の再生医療】 iPS細胞による創薬研究と供給体制　品質管理 Clinical Neuroscience . 2018.03; 36 (3): 333-337.

森尾友宏: 【疾患特異的iPS細胞を用いた病態研究と創薬】 疾患特異的iPS細胞を用いた免疫不全症に対するアプローチ 血液フロンティア. 2018.02; 28 (3): 353-360.

森尾友宏,藤田由利子,高橋聡: 【免疫細胞療法の現状と今後の展望】 難治性ウイルス感染症に対する細胞療法 臨床血液. 2018.02; 59 (2): 205-215. ( PubMed )

森尾友宏: 【頸部腫瘤の診かた】 炎症性疾患　ウイルス感染によるリンパ節腫脹 小児内科. 2018.02; 50 (2): 188-192.

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.

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 )

西村 聡, 真部 淳: 【骨髄異形成症候群(MDS)診療の進歩と課題】小児MDS Pharma Medica. 2018.02; 36 (2): 57-61. ( 医中誌 )

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 Clinical Pediatric Endocrinology. 2018.01; 27 (1): 31-38. ( 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.

岡本圭祐、森尾友宏: 膠原病・リウマチ性疾患の臨床像を呈する原発性免疫不全症候群 リウマチ科. 2018.01; 59 (1): 87-96. ( 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 )

西村聡，真部淳: 小児MDS Pharma Medica. 2018; 36 (2): 57-61.

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.

西村聡, 平林真介, 山本俊亮, 相賀咲央莉, 西谷美佐, 細谷要介, 森慎一郎, 長谷川大輔, 真部淳: Diamond-Blackfan貧血に対する強度減弱前処置を用いた骨髄移植. 日本小児血液・がん学会雑誌. 2018;

岩田啓、馬場信平、滝敦子、森山剣光、伊藤まりえ、小寺美咲、青木龍、大森意索、清水光政、森尾友宏: 新生児期から無呼吸・嚥下障害を呈した脳幹部低酸素性虚血性障害の乳児例 日本小児科学会雑誌. 2017.12; 121 (12): 1981-1986. ( 医中誌 )

橋本敦子, 藤川研人, 小西薫, 間下充子, 世良保美, 鹿島田健一: 先天性副腎過形成新生児マススクリーニングにおける週数別判定基準の検討 日本マススクリーニング学会誌. 2017.12; 27 (3): 57-61.

森尾友宏: 新生児期の免疫不全症 周産期医学. 2017.12; 47 (12): 1593-1597. ( 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 )

山内 建, 鹿島田 健一: 【子どもの生活習慣病-スクリーニングと早期予防】 生活習慣病と関連疾患　病態と治療　治療介入の決断時期　婦人科関連疾患 小児内科. 2017.10; 49 (10): 1523-1528.

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 )

森尾友宏: 「OPINION」新しい医療と生命倫理の諸問題：日本再生医療学会の果たすべき役割 再生医療. 2017.09; 16 (3): 7.

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 )

森尾友宏: 【診療の「コツ」を伝える-先輩からのアドバイス】 診察のコツ　触診・打診 小児内科. 2017.09; 49 (9): 1287-1290. ( 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 )

西村 聡, 真部 淳: 【急性リンパ芽球性白血病(ALL)の病態と診療-最近の展開】小児ALL治療の最近の動向 血液内科. 2017.09; 75 (3): 258-263. ( 医中誌 )

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 )

堀内真帆, 細川奨, 松村雄, 倉信大, 梶川優介, 森尾友宏, 土井庄三郎: Head-up tilt試験が失神の診断と治療方針決定に有効だった1例 小児科. 2017.08; 58 (8): 817-820. ( 医中誌 )

森尾友宏: 【実り始めた再生医療・遺伝子治療】 幹細胞など細胞を用いた治療で承認された治療はありますか?承認が近いものも含めて教えてください 小児内科. 2017.07; 49 (7): 922-925. ( 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 )

森尾友宏: 【遺伝子異常を基盤とする免疫疾患update】 序 炎症と免疫. 2017.06; 25 298.

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 )

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 )

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 )

村越未希,中絵里子,野静香,本圭祐,田憲正,尾友宏: アセトアミノフェン使用後に急性腎障害を呈した乳児の一例 日本小児腎臓病学会雑誌　. 2017.05; 30 128.

小林あゆみ,鹿島田彩子,馬場信平,横山はるな,森山剣光,瀬川裕子,和田綾子,森尾友宏,大山昇一,髙: 進行性の白質脳症・ジストニアと溶血発作を呈し網羅的ターゲットシークエンス解析で確定診断に至ったPGK欠損症の1例 脳と発達. 2017.05; 49 370.

田中絵里子,村越未希,岡本圭祐,多田憲正,森雅亮,森尾友宏: ループス腎炎に対するMycophenolate Mofetilの治療効果 日本小児腎臓病学会雑誌. 2017.05; 30 172.

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 )

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 )

菅原祐之, 森尾友宏: 文学、映画のなかの子どもの病気【第5回】国木田独歩「春の鳥」 小児内科. 2017.02; 49 (2): 299-301. ( 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 )

中川 竜一, 鹿島田 健一: 【小児内分泌アドバンス】内分泌領域における最新の知見　性分化機構 小児内科. 2017.02; 42 (2): 168-173.

荒木恭子, 内山健, 今村公俊, 鹿島田健一: 新生児高血糖の管理にインスリン持続静注を行った超早産児の２例 小児臨床. 2017.01; 70 (2): 265-270.

鹿島田 健一: 【知って得する小児内分泌代謝領域の話題】 性が分化すること 小児科臨床 . 2017.01; 70 (1): 25-32.

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 )

中川竜一,酢谷明人,辻敦美,松原洋平,滝島茂,高澤啓,宮井健太郎,小野真,大西寿和,鹿島田健一,森尾友宏: 21水酸化酸素欠乏症の成人男性においてLH,FSH基礎値は精巣容量の指標となり得る 2017; 93 377.

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 )

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.

友田 昂宏, 満生 紀子, 岡野 翼, 田中 真理[久保田], 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便中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 (11): 1643-1648. ( 医中誌 )

山内泰輔,我有茉希,高橋匡輝,田中絵里子,田中絵里子,森尾友宏,山内健,笠木美央子,南風原明子,松岡健太郎: 肺炎罹患と共に急速進行性糸球体腎炎を呈した一例 日本小児腎臓病学会雑誌. 2016.11; 29 188-189.

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.

星野顕宏, 森尾友宏: 複合免疫不全症や分類不能免疫不全症における自己免疫疾患 Keynote R・A. 2016.09; ４ 104-107.

緒方昌平,江波戸孝輔,扇原義人,坂東由紀,石井正浩,竹内恵美子,上野浩生,吉田健一,小川誠司,村松秀樹,奥野友介,小島勢二,白石友一,千葉健一,宮野悟,田中洋子,林泰秀,今井耕輔,金兼弘和,森尾友宏: TNFAIP3パプロ不全を認めた自己免疫性リンパ増殖症候群1男児症例 日本臨床免疫学会会誌. 2016.08; 39 421.

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.

森尾友宏: 専門施設とクリニックの連携体制：クリニックへの期待 東京小児科医会報. 2016.07; 35 (116): 3-6.

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.

森尾友宏: iPS細胞による原発性免疫不全症の治療戦略 炎症と免疫. 2016.05; 24 86-90.

山下基,森尾友宏: 【ガイドラインと最新文献による小児科学レビュー2016-’17】疾患編　感染・免疫異常・膠原病　先天性免疫不全症 小児科学レビュー2016-’17. 2016.05; 2016-’17 201-208. ( 医中誌 )

森尾友宏: 本邦における細胞ソース別, ドナー別にみた移植成績の比較　４）原発性免疫不全症 血液フロンティア. 2016.05; 26 (5): 51-55.

熊木恵里,森尾友宏: 感染・免疫・アレルギー PAPA症候群(化膿性関節炎・壊疽性膿皮症・ざ瘡症候群) 小児科診療. 2016.04; 79 335.

金兼弘和, 森尾友宏: 血友病等血液・免疫疾患　原発性免疫不全症 小児科臨床. 2016.04; 69 715-721.

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.

山下 基, 森尾 友宏: 【免疫症候群(第2版)-その他の免疫疾患を含めて-】原発性免疫不全症候群　複合免疫不全症　SCIDよりも軽症な複合免疫不全症　OX40欠損症 日本臨床. 2016.03; 78 (1190): 151-154. ( 医中誌 )

山下 基, 今井 耕輔, 金兼 弘和: 【免疫症候群(第2版)-その他の免疫疾患を含めて-】原発性免疫不全症候群　複合免疫不全症　T-B+重症複合免疫不全症(SCID)　JAK3欠損症 日本臨床. 2016.03; 78 (1190): 20-24. ( 医中誌 )

山下 基, 森尾 友宏: 【免疫症候群(第2版)-その他の免疫疾患を含めて-】原発性免疫不全症候群　複合免疫不全症　SCIDよりも軽症な複合免疫不全症　CARD11欠損症 日本臨床. 2016.03; 78 (1190): 143-146. ( 医中誌 )

山下 基, 森尾 友宏: 【免疫症候群(第2版)-その他の免疫疾患を含めて-】原発性免疫不全症候群　複合免疫不全症　SCIDよりも軽症な複合免疫不全症　IKBKB欠損症 日本臨床. 2016.03; 78 (1190): 155-157. ( 医中誌 )

山下 基, 森尾 友宏: 【免疫症候群(第2版)-その他の免疫疾患を含めて-】原発性免疫不全症候群　複合免疫不全症　SCIDよりも軽症な複合免疫不全症　BCL10欠損症 日本臨床. 2016.03; 78 (1190): 147-150. ( 医中誌 )

池上 雄亮, 吉田 さやか, 堀田 有希, 田口 真輝, 大仲 雅之, 鈴木 里香, 橋本 直樹, 山下 基, 岡野 翼, 高島 健浩, 星野 顕宏, 今井 耕輔, 金兼 弘和, 森尾 友宏: γグロブリン皮下注射が有効であった分類不能型免疫不全症の1例 奈良県総合医療センター医学雑誌. 2016.03; 20 (1): 103-106. ( 医中誌 )

森尾友宏: リンパ浮腫など特徴的所見を伴う免疫不全症 リンパ学. 2016.01; 38 47-49.

成健史,馬場信,森山剣光,平井高志,瀬川裕子,稲次基希,満生紀子,高木正稔,金兼弘和,森尾友宏: 生下時からの右下肢の不全麻痺、進行性の側湾を呈した脊髄腫瘍の1例 脳と発達. 2016; 49 59.

宮川 雄一, 鹿島田 健一: 先天性副腎過形成(CAH)精査機関での診断のポイント　17-OHP高値をとるCAHの病型診断と遺伝学的検査について 日本マス・スクリーニング学会誌 . 2015.12; 25 (3): 251-259.

森尾友宏: 重症感染症における好中球機能・シグナル異常とその制御 バイオメディカル. 2015.12; 25 9-14. ( 医中誌 )

長妻美紗子, 鹿島田健一: Cushing 症候群 小児疾患診療のための病態生理1　改訂5版　小児内科. 2015.11; 47

宮本智史,森尾友宏: 毛細血管拡張性運動失調症(AT) 臨床画像. 2015.10; 31 224-225.

藍智彦,出居真由美,堀内祐紀,佐藤尚武,藤村純也,東海林宏道,池野充,清水俊明,笹原洋二,森尾友宏,田部陽子,三井田孝: 巨核球の増加と大型血小板を認めたWiskott-Aldrich症候群の一例 臨床病理. 2015.10; 63 238.

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 )

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 )

扇原義人,江波戸孝輔,緒方昌平,板東由紀,石井正浩,今井耕輔,森尾友宏,北野悦子,北村肇: 繰り返す感染症を契機に診断に至った先天性C2欠損症の1例 補体　. 2015.08; 52 82.

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.

森尾友宏: 先天性免疫不全症候群 内科. 2015.06; 115 1180-1183.

井原規公,梶原一紘,藤永英志,和田誠司,森尾友宏,佐合治彦: 先天性代謝異常症の治療戦略：母体に免疫反応を示さない造血幹細胞の胎児期移植 2015.06; 51 718.

森丘千夏子,本多泉,滝敦子,森尾友宏,森田育男: 臍帯由来間葉系幹細胞を用いた脳室周囲白質軟化症の治療効果とその機序の解明 日本周産期・新生児医学会雑誌. 2015.06; 51 790.

杉江学,伊藤一之,森丘千夏子,滝敦子,鬼塚真由美,江川真希子,鳥羽三佳代,宮坂尚幸,森尾友宏: 当院NICU開設後3年間の活動状況と今後の課題 日本周産期・新生児医学会雑誌　. 2015.06; 51 919.

佐藤陽治, 鈴木邦彦, 宮田俊男, 森尾友宏, 横川拓哉: 新制度は再生医療に何をもたらすか 再生医療. 2015.05; 14 (2): 9-16.

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 )

鹿島田健一: 思春期にあるがん患者・サバイバー (CCS) の医学的問題 小児看護. 2015; 38 1373-1378.

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; 20 47-51.

宮川雄一, 鹿島田健一: 先天性副腎過形成(CAH)精査機関での診断のポイント〜17-OHP高値をとるCAHの病型診断と遺伝学的検査について〜 日本マススクリーニング学会雑誌. 2015; 25 (3): 9-17.

石渡泰芳,永田将司,瀬川加奈子,高橋弘充,今井耕輔,高木正稔,金兼弘和,森尾友宏,安原眞人: 小児におけるブスルファン血中濃度モニタリング-低容量試験投与の有用性について- 日本医療薬学会年会講演要旨集. 2015; 1 327.

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.

森尾友宏: はじめに－感染症の歴史と免疫不全症の概念の変遷 小児内科. 2014.10; 46 (10): 1432-1434. ( 医中誌 )

森尾友宏: 成人にいたった免疫不全症 小児内科. 2014.10; 46 (10): 1550-1552. ( 医中誌 )

高島健浩、今井耕輔、森尾友宏: 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. ( 医中誌 )

森 雅亮、森尾友宏、伊藤秀一、森本 哲、太田節雄、水田耕一、岩田 力、原 寿郎、佐地 勉: 免疫不全およびダウン症候群におけるパリビズマブ使用の手引き 小児リウマチ. 2014.06; 5 (1): 5-8. ( 医中誌 )

滝島 茂, 鹿島田 健一: 性分化　低身長症(-2.6SD)を呈したKlinefelter症候群(48,XXXY)の1例 ホルモンと臨床. 2014.05; 62 (5): 417-420.

高島健浩，森尾友宏: 原発性免疫不全症の分子的背景と免疫異常 リウマチ科. 2014.05; 51 (5): 590-591. ( 医中誌 )

関矢 一郎, 清水 則夫, 森尾 友宏, 宗田 大: 運動器再生医療研究の最先端 滑膜間葉系幹細胞を用いる軟骨再生医療の手順 日本整形外科学会雑誌. 2014.04; 88 (4): 212-215. ( 医中誌 )

藏田泉, 近藤裕也, 横澤将宏, 萩谷千裕, 萩原晋也, 廣田智哉, 堀越正信, 梅田直人, 坪井洋人, 杉原 誠人, 荻島博, 鈴木豪, 松本功, 住田孝之, 森尾友宏: 原発性免疫不全症候群にITP/AIHAを合併し、治療経過中にニューモシスチス肺炎を発症した一例 関東リウマチ. 2014.04; 47 324-331. ( 医中誌 )

森尾友宏: 自然免疫と発熱 小児内科. 2014.03; 46 (3): 324-327. ( 医中誌 )

森尾友宏: 原発性免疫不全症における消化管感染症 小児内科. 2014.01; 46 (1): 123-126. ( 医中誌 )

森雅亮, 森尾友宏, 伊藤秀一, 森本哲, 太田節雄, 水田耕一, 岩田力, 原寿郎, 佐地勉: 免疫不全児およびダウン症候群におけるRSウイルス感染重症化リスクとその感染予防 日本小児科学会雑誌. 2014.01; 118 (1): 9-16. ( 医中誌 )

木村秀樹, 池 裕明, 岡正朗, 鈴木弘行, 谷憲三朗, 徳久剛史, 中面哲也, 森尾友宏, 山口佳之, 阿曽沼元博, 河上裕, 紀ノ岡正博, 澤芳樹, 清水則夫: 免疫細胞療法細胞培養ガイドライン 医薬品医療機器レギュラトリーサイエンス. 2014; 45 (5): 411-433. ( 医中誌 )

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.

森尾友宏: インフルエンザに対する自然および獲得免疫応答 小児内科. 2013.11; 45 (11): 1947-1951. ( 医中誌 )

森尾友宏, 宮坂あかね, 小野敏明, 落合央, 藤田由利子, 高橋聡: 移植後ウイルス感染に対する多ウイルス特異的CTL療法 日本小児血液・がん学会雑誌. 2013.10; 50 (3): 335-340. ( 医中誌 )

森尾友宏: 分類不能型免疫不全症(CVID)の多彩な病像と分子基盤 臨床血液. 2013.10; 54 (10): 1983-1991. ( PubMed , 医中誌 )

近藤達郎, 与田仁志, 森尾友宏: ダウン症候群とRSウイルス感染症の病態を考える　各領域における現状と問題点 Fetal & Neonatal Medicine. 2013.09; 5 (2): 26-35. ( 医中誌 )

山田尚, 森尾友宏, 古川恵一: EBウイルス感染症のピットホール 成人病と生活習慣病. 2013.09; 43 (9): 1021-1032. ( 医中誌 )

渡辺恵理, 阿部素子, 工藤寿子, 浜田聡, 糸洲倫江, 中内啓光, 森尾友宏, 渡辺信和: 重症複合免疫不全症に対する臍帯血ミニ移植後の混合キメリズムの遷延 CYTOMETRY RESEARCH. 2013.09; 23 (2): 41-49. ( 医中誌 )

森尾友宏: 間葉系幹細胞による移植片対宿主病の治療 臨床免疫・アレルギー科. 2013.08; 60 (2): 210-217. ( 医中誌 )

森尾友宏: 先天性免疫異常症　内科領域で遭遇する多彩な疾患 臨床血液. 2013.08; 54 (8): 726-735. ( 医中誌 )

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.

森尾友宏: 好中球過剰活性化制御機構と炎症 炎症と免疫. 2013.06; 21 (4): 345-351. ( 医中誌 )

森尾友宏: 【検査値を読む2013】　細胞性免疫検査 T細胞B細胞比率 内科. 2013.06; 111 (6): 1400. ( 医中誌 )

森尾友宏: 【検査値を読む2013】　細胞性免疫検査 薬剤によるリンパ球幼若化検査:リンパ球刺激試験 内科. 2013.06; 111 (6): 1402. ( 医中誌 )

森尾友宏: 【検査値を読む2013】　細胞性免疫検査 Bリンパ球表面免疫グロブリン 内科. 2013.06; 111 (6): 1403. ( 医中誌 )

森尾友宏: 【検査値を読む2013】　細胞性免疫検査 リンパ球サブセット検査 内科. 2013.06; 111 (6): 1404. ( 医中誌 )

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. ( 医中誌 )

森尾友宏: 【免疫反応と疾患】　免疫不全における免疫異常 先天性免疫不全症候群 Medicina. 2013.03; 50 (3): 484-489. ( 医中誌 )

森尾友宏: 【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】 症候と診断　免疫不全症を疑うとき 小児科診療. 2013.03; 76 (3): 376-382. ( 医中誌 )

森尾友宏: 【血液症候群(第2版)-その他の血液疾患を含めて-】 リンパ球の異常　リンパ球機能異常と類縁疾患　原発性免疫不全症候群　分類不能型免疫不全症 日本臨床　別冊血液症候群第2版. 2013.03; 2 232-236. ( 医中誌 )

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 )

森尾友宏: 分類不能型免疫不全症 日本臨床. 2012.11; 70 (11): 2011-2021. ( 医中誌 )

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 )

森尾友宏: 先天性免疫不全症の病態と思春期以降のマネジメント 血液内科. 2012.10; 65 (4): 599-607. ( 医中誌 )

森尾友宏: 【クローズアップ感染症】 <感染性疾患の基礎的な知見の進歩・概念の変化>感染症と自然免疫　 小児内科. 2012.07; 44 (7): 959-965. ( 医中誌 )

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 )

森尾友宏: 【サイトカインのすべて(完全改訂版)】 サイトカイン投与およびサイトカイン抑制による治療　免疫不全症 臨床免疫・アレルギー科. 2012.05; 57 (suppl.21): 838-844. ( 医中誌 )

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 )

高澤 啓, 鹿島田 健一: 【小児の内分泌・代謝性疾患診療のUpdate】 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.

森尾友宏: 原発性免疫不全症における臨床遺伝学 T細胞系免疫異常症における遺伝子診療 日本遺伝カウンセリング. 2012.03; 33 (1): 49-53. ( 医中誌 )

森尾友宏: 分類不能型免疫不全症Update 日本臨床免疫学会雑誌. 2012.02; 35 (1): 14-22. ( 医中誌 )

磯田健志, 森尾友宏, 水谷修紀: 新生児の免疫 臨床と微生物. 2011.11; 38 (6): 637-642. ( 医中誌 )

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 )

大川哲平, 森尾友宏: ダウン症の免疫学的特性について 小児科臨床. 2011.10; 64 (10): 2109-2115. ( 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 )

森尾友宏: 分類不能型免疫不全症 炎症と免疫. 2011.04; 19 (3): 17-22. ( 医中誌 )

水谷修紀, 富澤大輔, 森尾友宏, 長澤正之, 土井正三郎, 菅原裕之: 【臨床医学の展望2011】 小児科学 日本医事新報. 2011.03; 4533 59-68. ( 医中誌 )

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 )

宇田川智宏　小椋雅夫　亀井宏一　尾田高志　伊藤秀一: Posterior reveersible encephalopathy syndromeで発症した溶連菌感染後急性糸球体腎炎の一男児例. 小児高血圧研究会誌. 2011; 8巻 (1号): 37-43.

宇田川智宏　伊藤秀一: なぜ輸液製剤のK濃度は40ｍEq/L か？. 小児内科. 2011; 43巻 (4号): 737-739.

森尾友宏: 【内科疾患の診断基準 病型分類・重症度】 免疫・その他 先天性免疫不全症候群 内科. 2010.06; 105 (6): 1296-1300. ( 医中誌 )

森尾友宏: 免疫疾患　先天性免疫不全症 小児科学レビュー. 2010.04; 2010 177-183. ( 医中誌 )

満生紀子, 梶原道子, 長澤正之, 森尾友宏, 水谷修紀: 急性リンパ性白血病の治療後に皮膚限局型ランゲルハンス組織球症を発症した1例 日本小児血液学会雑誌. 2010.04; 24 (2): 93-96. ( 医中誌 )

山本紗也香, 杉田直, 堀江真太郎, 清水則夫, 森尾友宏: 角膜炎を伴わない単純ヘルペスウイルス1型虹彩毛様体炎の3例 あたらしい眼科. 2010.02; 24 (2): 252-255. ( 医中誌 )

宇田川智宏: 高血圧で発症した高安動脈炎の三小児例. 小児高血圧研究会雑誌. 2010; 7巻 (1号): 49-55.

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 )

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 )

森尾友宏: 【見直してみよう!麻疹・風疹・水痘・ムンプス】 ウイルス感染の排除機構と免疫記憶 小児内科. 2009.07; 41 (7): 970-975. ( 医中誌 )

山本紗也香, 杉田直, 森尾友宏, 清水則夫, 望月學: 眼部帯状疱疹の涙液中の水痘・帯状疱疹ウイルスDNA量 臨床眼科. 2009.05; 63 (5): 707-710. ( 医中誌 )

松下年子, 小林未果, 松島英介, 森尾友宏, 水谷修紀, 角田由美子, 有江典子: 長期入院治療を要する悪性疾患の子どもを抱えた母親の心理とQOL 埼玉医科大学看護学科紀要. 2009.03; 2 (1): 11-17. ( 医中誌 )

森尾友宏: V(D)J再構成および免疫グロブリンクラススイッチにおけるATMの役割 臨床免疫・アレルギー科. 2009.02; 51 (2): 154-161. ( 医中誌 )

磯田健志, 森尾友宏, 水谷修紀: 新しい治療 Novel Therapeutic Approach 小児がん看護. 2009; 86-93.

森尾友宏: 【原発性免疫不全症候群】 Ataxia telangiectasia アレルギー・免疫. 2008.09; 15 (10): 1370-1377. ( 医中誌 )

森尾友宏: Ataxia telangiectasiaの臨床的特徴 全国調査から明らかになったこと 小児科臨床. 2008.09; 61 (9): 1805-1810. ( 医中誌 )

木戸さやか, 杉田直, 二神百合, 堀江真太郎, 佐々木秀次, 望月學, 清水則夫, 森尾友宏: ステロイド点眼治療中に樹枝状角膜炎を合併したヘルペス性角膜内皮炎の4例 臨床眼科. 2008.07; 62 (7): 1061-1-65. ( 医中誌 )

高橋尚美, 森尾友宏: 分類不能型免疫不全症 日本臨床免疫学会会誌. 2008.02; 13 (1): 9-16. ( 医中誌 )

杉田直, 岩永洋一, 川口龍史, 二神百合, 堀江真太郎, 臼井友香, 山本紗也香, 菅本良治, 望月學, 清水則夫, 渡邊健, 水上美樹, 森尾友宏: 急性網膜壊死患者眼内液の多項目迅速ウイルスpolymerase chain reaction(PCR)およびreal-time PCR法によるヘルペスウイルス遺伝子同定 日本眼科学会雑誌. 2008.01; 112 (1): 30-38. ( 医中誌 )

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 )

森尾友宏: Omenn症候群の成因と病態 臨床免疫・アレルギー科. 2007.04; 47 (4): 484-488. ( 医中誌 )

森尾友宏: 日和見感染症に対する細胞治療 アニムス. 2007; 46 32-36.

木村宏, 河敬世, 大石勉, 前田明彦, 岡村隆行, 大賀正一, 金兼弘和, 森雅亮, 森本哲, 森尾友宏, 今井章介, 岡野素彦, 谷内江昭宏, 土屋滋, 脇口宏: 慢性活動性EBウイルス感染症の長期予後について 日本小児科学会雑誌. 2006.11; 110 (11): 1578-1580. ( 医中誌 )

鹿島田 健一: 【志願者減少から検証する臨床研修制度での小児科研修の問題点と展望】 一般病院における小児科研修 東京小児科医会報. 2006.11; 25 (2): 25-30.

西口康介, 岡本健太郎, 石井洋介, 森尾友宏, 水谷修紀, 土井庄三郎, 長澤正之, 脇本博子, 大谷俊樹: ヒルシュスプルング病治療中に、感染性心内膜炎および感染性脳動脈瘤破裂を合併した1症例 小児科臨床. 2006.10; 59 (10): 2175-2184. ( 医中誌 )

青木由貴, 松本暁子, 荒木聡, 大西寿和, 富澤大輔, 長澤正之, 細川奨, 脇本博子, 森尾友宏, 水谷修紀: 急性巨核芽球性白血病に対し,臍帯血移植を施行したDown症候群の1男児例 小児科臨床. 2006.03; 59 (3): 477-484. ( 医中誌 )

鹿島田 健一: 【血糖調節from A to Z】　2000-2004 Year Book　最近の論文から学ぶ糖尿病関連事項 小児科診療. 2005.10; 68 (10): 1901-1908.

石原卓, 金 一, 中野智巳, 石川直子, 辰巳公平, 釜本智之, 坂東由香, 西久保敏也, 西野正人, 森尾友宏: Wiskott-Aldrich症候群の1例 小児科臨床. 2005.06; 58 1051-1055. ( 医中誌 )

森尾友宏: 免疫不全患児への感染対策 当院での対応 「医師の立場から」 小児看護. 2005.05; 28 (5): 634-641. ( 医中誌 )

中田光, 濱野栄美, 川辺芳子, 益田公彦, 永井英明, 有賀晴之, 倉島篤行, 森尾友宏, 清水則夫: 多剤耐性結核の治療　多剤耐性結核患者に対する活性化T細胞輸注療法の試み 結核. 2005.03; 79 (3): 681-684. ( 医中誌 )

森尾友宏: EBウイルス関連血球貪食症候群の診断と治療 血液フロンティア. 2004.12; 15 (1): 65-73. ( 医中誌 )

田中雄二郎, 森尾友宏, 増田美香子, 伊藤康太, 鎮西亮子: 教官の実習指導に対する学生による評価 医学教育. 2004.08; 35 (4): 273-279. ( 医中誌 )

森尾友宏: EBV関連疾患に対する細胞療法 Herpes Management. 2004.06; 8 (1): 6. ( 医中誌 )

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 )

清水則夫, 渡辺健, 森尾友宏: インフラストラクチャーの整備 血液・免疫・腫瘍. 2004.01; 9 (1): 77-82. ( 医中誌 )

森尾友宏: RFX5の遺伝子異常による非定型bare lymphocyte syndrome 臨床免疫. 2003.07; 40 (1): 29-33. ( 医中誌 )

森尾友宏: その他の原発性免疫不全症のゲノム医学 ゲノム医学. 2003.06; 3 (3): 323-326. ( 医中誌 )

森尾友宏: DNA切断修復に関与する分子と免疫系 日本臨床免疫学会会誌. 2003.06; 26 (3): 115-120. ( 医中誌 )

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 )

森尾友宏: 原発性免疫不全症の診断プロトコル Medical Technology. 2002.12; 30 (12): 1342-1350. ( 医中誌 )

森尾友宏, 清水則夫, 関根暉彬: 難治性ウイルス感染症に対する活性化T細胞輸注療法 小児科. 2002.10; 43 (11): 1553-1558. ( 医中誌 )

Masaki Noda, Kunikazu Tsuji, Muneaki Ishijima, Michihiko Usui, Maya Takamoto, Kenichi Kashimada, Akira Nitou: [Bone remodeling]. Nippon Rinsho. 2002.03; 60 Suppl 3 34-39. ( PubMed )

野田 政樹, 辻 邦和, 石島 旨章, 臼井 通彦, 高本 真弥, 鹿島田 健一, 二藤 彰: 【骨粗鬆症　最新の成因研究と治療動向】　骨代謝の分子生物学　骨のリモデリング 日本臨床. 2002.03; 60 (3): 34-39.

野田 政樹, 鹿島田 健一, 前田 由紀子, 湯本 健司, 辻 邦和, 二藤 彰: 【期待される移植　再生医療　現状と展望】　再生医療の最前線　骨再生 小児内科. 2002.01; 34 (1): 104-109.

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. ( 医中誌 )

M Noda, K Kashimada, M Takamoto, K Yumoto, Y Maeda, M Usui, M Ishijima: [The meaning of phosphate in bone formation]. Clin Calcium. 2001.10; 11 (10): 1315-1320. ( PubMed , DOI )

野田 政樹, 鹿島田 健一, 高本 真弥, 湯本 健司, 前田 由紀子, 臼井 通彦, 石島 旨章: 【リンの代謝とその制御】　骨形成におけるリンの意義 Clinical Calcium. 2001.09; 11 (10): 1315-1320.

森尾友宏: 活性化T細胞輸注療法 日本小児科医会報. 2001.07; 20 (1): 22-25. ( 医中誌 )

M Noda, K Nomura, Y Asou, H Nemoto, M Ishijima, M Takamoto, M Usui, K Kashimada: [Bone metabolism and angiogenesis]. Clin Calcium. 2001.04; 11 (4): 404-410. ( PubMed , DOI )

森尾友宏: Kuの細胞内局在変化によるIgクラススイッチ制御 実験医学. 2001.03; 19 (5): 22-26. ( 医中誌 )

野田 政樹, 野村 和弘, 麻生 義則, 根本 啓行, 石島 旨章, 高本 真弥, 臼井 通彦, 鹿島田 健一: 【遺伝子とカルシウム　血管と骨を制御する遺伝子とその異常】　骨代謝と血管新生 Clinical Calcium . 2001.03; 11 (4): 404-410.

森尾友宏: 活性化T細胞を用いた治療 小児内科. 2000.11; 32 (11): 2054-2057. ( 医中誌 )

森尾友宏: CD40シグナル伝達におけるKuタンパクの役割 臨床免疫. 2000.11; 34 (5): 677-681. ( 医中誌 )

森尾友宏: 原発性免疫不全症候群の診断基準・病型分類・重症度 内科. 2000.06; 85 (6): 1492-1497. ( 医中誌 )

森尾友宏: 活性化T細胞輸注療法 小児科. 2000.05; 41 (6): 1141-1147. ( 医中誌 )

森尾友宏: 免疫グロブリンクラススイッチ誘導シグナルにおけるKuの役割に関する研究 臨床薬理の進歩. 2000.05; 21 134-139. ( 医中誌 )

今井雅子, 田川由美, 森尾友宏, 大川洋二, 矢田純一, 神田隆, 結城伸泰: 多彩な臨床像を示した骨髄移植後Guillain-Barre症候群の1例 小児科. 2000.03; 41 (3): 501-505. ( 医中誌 )

森尾友宏: 慢性活動性Epstein-Barrウイルス感染症に対するex vivo活性化自己T細胞輸注療法 医学のあゆみ. 1999.09; 190 (11): 1008-1009. ( 医中誌 )

森尾友宏: コンプロマイズドホストの難治ウイルス感染症に対するex vivo増殖T細胞移入療法 小児科. 1999.09; 40 (10): 1188-1192. ( 医中誌 )

森尾友宏: 先天性免疫不全症の病態の解明と治療への展望 臨床病理. 1999.06; 47 (6): 519-524. ( 医中誌 )

今井 雅子(東京医科歯科大学 医 小児科), 森尾 友宏, 矢田 純一: 先天性(原発性)免疫不全症候群に合併する感染症 臨床と微生物. 1999.01; 26 (1): 23-29. ( 医中誌 )

森尾友宏: ヒトB-SCIDにおけるRAG遺伝子変異 臨床免疫. 1997.12; 29 (12): 1550-1554. ( 医中誌 )

森尾友宏: サイトメガロウイルスの疑似MHC class I生成による免疫監視機構からのエスケープ 医学のあゆみ. 1997.11; 183 (8): 506-507. ( 医中誌 )

森尾友宏: MHC class I欠損症の分子機構(TAP分子異常症) 医学のあゆみ. 1997.09; 182 (10): 746-748. ( 医中誌 )

森尾友宏: MHC class II欠損症の分子機構(C II TA,RFX分子異常症) 医学のあゆみ. 1997.09; 182 (10): 741-745. ( 医中誌 )

森尾友宏: CD43のT細胞活性化における役割 臨床免疫. 1997.04; 29 (4): 496-499. ( 医中誌 )

森尾友宏: CD40と会合する新しい分子 免疫Immunology Frontier. 1997.04; 7 (2): 31-34. ( 医中誌 )

森尾友宏: MHC class II遺伝子の発現を調節する分子群(class IItransactivator: CIITA) 医学のあゆみ. 1997.04; 181 (2): 139-142. ( 医中誌 )

森尾友宏: Jak-2インヒビターを用いた急性リンパ性白血病の抑制 臨床免疫. 1997.02; 29 (2): 223-226. ( 医中誌 )

森尾友宏: ヒトリンパ増殖性疾患におけるFas抗原変異 臨床免疫. 1996.12; 28 (12): 1576-1579. ( 医中誌 )

森尾友宏: JAK3キナーゼ異常による免疫不全症 医学のあゆみ. 1996.09; 178 (11): 824-825. ( 医中誌 )

森尾友宏: CD40の機能とシグナル伝達機構 臨床免疫. 1996.02; 28 (2): 214-220. ( 医中誌 )

森尾友宏: B細胞におけるCD40からのシグナル伝達経路 臨床免疫. 1995.05; 27 (5): 613-618. ( 医中誌 )

森尾友宏: Tリンパ球の役割 Tリンパ球の分化と機能 Medicina. 1992.11; 29 (12): 1986-1990. ( 医中誌 )

森尾友宏: クラス1MHCによる抗原の処理と呈示 臨床免疫. 1992.10; 24 (10): 1483-1488. ( 医中誌 )

森尾友宏: Wiskott-Aldrich症候群 その病態生理と治療(骨髄移植) 小児内科. 1992.07; 24 (7): 1079-1084. ( 医中誌 )

森尾友宏: γδT細胞の分化における胸腺の役割 臨床免疫. 1992.07; 24 (7): 992-995. ( 医中誌 )

森尾友宏: 特異抗原を認識するNK細胞 臨床免疫. 1992.04; 24 (4): 568-572. ( 医中誌 )

森尾友宏: 表面分子とリンパ球の活性化 CD43 臨床免疫. 1992.01; 24 (1): 45-51. ( 医中誌 )

森尾友宏: Wiskott-Aldrich症候群におけるsialophorin(CD43)の意義 医学のあゆみ. 1992; 161 (13): 973.

森尾友宏: T細胞レセプターの正と負の選択 臨床医. 1991.07; 17 (7): 1598-1601. ( 医中誌 )

森尾友宏: T細胞レセプターVβのアロタイプとその意義 臨床免疫. 1991.05; 23 (5): 738-742. ( 医中誌 )

森尾友宏: T細胞レセプターζ 臨床免疫. 1991.01; 23 (1): 165-170. ( 医中誌 )

林雅晴, 森尾友宏, 岩川善英: 白血病児にみられたprimary position upbeat nystagmus 臨床脳波. 1990.08; 32 (8): 546-548. ( 医中誌 )

森尾友宏: ヒトγδ T細胞の検出 臨床免疫. 1990.07; 22 (suppl.15): 102-108. ( 医中誌 )

森尾友宏: CD2やCD4/CD8を欠くαβT細胞 臨床免疫. 1990.06; 22 (6): 921-926. ( 医中誌 )

森尾友宏: Wiskott-Aldrich症候群 臨床免疫. 1990.06; 22 (6): 801-808. ( 医中誌 )

森尾友宏: γδ型T細胞が主役を演ずる病変 臨床免疫. 1990.02; 22 (2): 286-290. ( 医中誌 )

森尾友宏: Tcell受容体とその他の分子(CD2. CD4. CD8) Immunohaematology. 1990; 12 341-347.

森尾友宏: γδT細胞抗原レセプター 検査と技術. 1990; 18 1079-1080.

森尾友宏: CD3-抗原特異的リンパ球 臨床免疫. 1989.12; 21 (12): 1951-1955. ( 医中誌 )

森尾友宏: NK細胞の免疫調節作用 臨床免疫. 1989.11; 21 (11): 1750-1758. ( 医中誌 )

森尾友宏: 発症の免疫学的機序に関する最近の考え方 15 WISKOTT-ALDRICH症候群 臨床医. 1989.10; 15 (10): 1716-1718.

森尾友宏: 原発性免疫不全症で増加するユニークな細胞集団の解析 臨床免疫. 1989.03; 21 (3): 366-372. ( 医中誌 )

森尾友宏: γδT細胞レセプタ－をもつ細胞の機能 臨床免疫. 1989; 21 34-44.

森尾友宏: γδT細胞レセプタ－は何種類か存在する 臨床免疫. 1989; 21 958-962.

森尾友宏: Large granular lymphocyte(LGL)の機能的多様性 臨床免疫. 1988.12; 20 (12): 1107-1114.

小宮山淳, 土田昌宏, 森尾友宏, 大川洋二, 他: 小児慢性好中球減少症におけるP-100(CSF-HU)の臨床効果に関する検討 臨床血液. 1988.09; 29 (9): 1365-1370. ( 医中誌 )

森尾友宏: CD4-CD8-T細胞 Immunohaematology：免疫と血液. 1988; 10 283-287.

加藤卓朗, 佐野隆夫, 岡恵子, 香川三郎, 森尾友宏: ＡＬＬに合併した原発性皮膚クリプトコックス症 西日本皮膚科. 1988; 50 862-866.

森尾友宏, 野々山恵章, 水口淳一, 他: Cisplatinumを中心とする化学療法により治療した胎児性卵黄嚢癌の3例 小児がん. 1987.01; 22 195-197. ( 医中誌 )