発生発達病態学

1,005  件  
※ 登録方法の違いにより重複して表示されている場合があります。

  1. Ayami Ohya, Dan Tomomasa, Fumiaki Sakura, Takaki Asano, Atsuko Arisaka, Takumi Akashi, Menno C van Zelm, Tomohiro Morio, Satoshi Okada, Hirokazu Kanegane: A case of primary ciliary dyskinesis with DRC1 deletion and literature review: Additional evidence on the founder effect. Pediatr Int. 2024.12; 66 (1): e15808. ( PubMed , DOI )

  2. Yuri Suzuki, Ryosei Iemura, Akito Sutani, Yuki Mizuno, Eriko Adachi, Mineko Ushiama, Teruhiko Yoshida, Makoto Hirata, Akihiro Hoshino, Kurara Yamomoto, Takumi Akashi, Yoshiko Nakano, Takeshi Isoda, Kei Takasawa, Motohiro Kato, Masatoshi Takagi, Kentaro Okamoto, Tomohiro Morio, Kenichi Kashimada: Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL. Clin Pediatr Endocrinol. 2024.10; 33 (4): 229-237. ( PubMed , DOI )

  3. Hirofumi Shibata, Daisuke Nakajima, Ryo Konno, Atsushi Hijikata, Motoko Higashiguchi, Hiroshi Nihira, Saeko Shimodera, Takayuki Miyamoto, Masahiko Nishitani-Isa, Eitaro Hiejima, Kazushi Izawa, Junko Takita, Toshio Heike, Ken Okamura, Hidenori Ohnishi, Masataka Ishimura, Satoshi Okada, Motoi Yamashita, Tomohiro Morio, Hirokazu Kanegane, Kohsuke Imai, Yasuko Nakamura, Shigeaki Nonoyama, Toru Uchiyama, Masafumi Onodera, Ryuta Nishikomori, Osamu Ohara, Yusuke Kawashima, Takahiro Yasumi: A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity. J Clin Immunol. 2024.10; 45 (1): 33. ( PubMed , DOI )

  4. Hirokazu Kanegane: Lymphoproliferative Syndrome 2 (LPFS2) SpringerLink. 2024.09;

  5. Dan Tomomasa, Tasuku Suzuki, Ichiro Takeuchi, Kimitoshi Goto, Shin-Ichiro Hagiwara, Dai Keino, Satoshi Saida, Takashi Ishige, Takahiro Kudo, Katsuhide Eguchi, Masataka Ishimura, Yusuke Matsuda, Taizo Wada, Yoshiya Ito, Motohiro Kato, Yoji Sasahara, Tomohiro Morio, Katsuhiro Arai, Holm H Uhlig, Hirokazu Kanegane: Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan. J Clin Immunol. 2024.09; 45 (1): 6. ( PubMed , DOI )

  6. Dan Tomomasa, Kay Tanita, Yuriko Hiruma, Akihiro Hoshino, Ko Kudo, Shohei Azumi, Mitsutaka Shiota, Masayoshi Yamaoka, Katsuhide Eguchi, Masataka Ishimura, Yuka Tanaka, Keiji Iwatsuki, Keisuke Okuno, Asahito Hama, Ken-Ichi Sakamoto, Takashi Taga, Kimitoshi Goto, Haruka Ota, Akihiro Ichiki, Kaori Kanda, Takako Miyamura, Saori Endo, Hidenori Ohnishi, Yoji Sasahara, Ayako Arai, Benjamin Fornier, Ken-Ichi Imadome, Tomohiro Morio, Sylvain Latour, Hirokazu Kanegane: Highly sensitive detection of Epstein-Barr virus-infected cells by EBER flow FISH. Int J Hematol. 2024.08; 120 (2): 241-251. ( PubMed , DOI )

  7. Kanegane, H., Miyamoto, S., Nishimura, A., Yoshida, N: Cord Blood Transplantation for Nonmalignant Diseases Comprehensive Hematology and Stem Cell Research. 2024.08; 4 84-93.

  8. Takanori Utsumi, Miyuki Tsumura, Masato Yashiro, Zenichiro Kato, Kosuke Noma, Fumiaki Sakura, Reiko Kagawa, Yoko Mizoguchi, Shuhei Karakawa, Hidenori Ohnishi, Charlotte Cunningham-Rundles, Peter D Arkwright, Masao Kobayashi, Hirokazu Kanegane, Dusan Bogunovic, Bertrand Boisson, Jean-Laurent Casanova, Takaki Asano, Satoshi Okada: Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency. J Clin Immunol. 2024.08; 44 (8): 178. ( PubMed , DOI )

  9. Yuzaburo Inoue, Ryoko Sakai, Eisuke Inoue, Kanako Mitsunaga, Masaki Shimizu, Takahiko Sugihara, Masakazu Matsushita, Ken Yamaji, Masaaki Mori, Naoki Shimojo, Takako Miyamae: Nationwide epidemiological survey of juvenile idiopathic arthritis during transition to young adulthood in Japan using the National Database of Designated Incurable Diseases of Japan. Mod Rheumatol. 2024.08; ( PubMed , DOI )

  10. Naoto Yokogawa, Ryoko Sakai, Masakazu Matsushita, Masaki Shimizu, Yuzaburo Inoue, Eisuke Inoue, Ken Yamaji, Masaaki Mori, Takako Miyamae: Delayed global standardization and prefectural disparities in systematic lupus erythematosus treatment in Japan: a nationwide study using the National Database of Health Insurance Claims and Specific Health Checkups of Japan. Mod Rheumatol. 2024.08; ( PubMed , DOI )

  11. Toru Kanamori, Tomohiro Udagawa, Takayuki Fujii, Hiroyoshi Matsukura, Yuka Iwaya, Motoshi Sonoda, Keisuke Sugimoto, Masahiro Takeguchi, Atsunori Yoshino, I-Feng Wang, Daw-Yang Hwang, Harry W Schroeder, Masaki Shimizu, Hans D Ochs, Tomohiro Morio, Hirokazu Kanegane: Discordant Phenotypes of Nephritis in Patients with X-linked Agammaglobulinemia. J Clin Immunol. 2024.07; 44 (7): 164. ( PubMed , DOI )

  12. Takahiro Tomoda, Akira Nishimura, Takahiro Kamiya, Kumi Inoue, Harutaka Katano, Shun Iida, Akihiro Hoshino, Takeshi Isoda, Kohsuke Imai, Michiko Kajiwara, Masatoshi Takagi, Hirokazu Kanegane, Nozomu Hanaoka, Tomohiro Morio: Immune reconstitution and cidofovir administration rescue human adenovirus hepatitis after allogeneic hematopoietic cell transplantation. Transpl Immunol. 2024.07; 102093. ( PubMed , DOI )

  13. Shuya Kaneko, Asami Shimbo, Hitoshi Irabu, Mao Mizuta, Yasuo Nakagishi, Naomi Iwata, Koji Yokoyama, Junko Yasumura, Keiji Akamine, Kazuyuki Ueno, Shuhei Fujita, Kenichi Watanabe, Shojiro Watanabe, Hiroki Nishikawa, Junya Fujimura, Masaaki Mori, Masaki Shimizu: Serum interleukin-18 levels can improve the diagnostic performance of the PRINTO and ILAR criteria for systemic juvenile idiopathic arthritis. Cytokine. 2024.07; 182 156719. ( PubMed , DOI )

  14. Takanori Utsumi, Miyuki Tsumura, Masato Yashiro, Zenichiro Kato, Kosuke Noma, Fumiaki Sakura, Reiko Kagawa, Yoko Mizoguchi, Shuhei Karakawa, Hidenori Ohnishi, Charlotte Cunningham-Rundles, Peter D Arkwright, Masao Kobayashi, Hirokazu Kanegane, Dusan Bogunovic, Bertrand Boisson, Jean-Laurent Casanova, Takaki Asano, Satoshi Okada: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency. J Clin Immunol. 2024.07; 44 (7): 167. ( PubMed , DOI )

  15. Takasawa Kei, Iemura Ryosei, Orimoto Ryuta, Yamano Haruki, Kirino Shizuka, Adachi Eriko, Saito Yoko, Yamamoto Kurara, Matsuda Nozomi, Takishima Shigeru, Shuno Kumi, Tajima Hanako, Sugie Manabu, Mizuno Yuki, Sutani Akito, Okamoto Kentaro, Masue Michiya, Morio Tomohiro, Kashimada Kenichi: Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience(タイトル和訳中) Clinical Pediatric Endocrinology. 2024.07; 33 (3): 187-194. ( 医中誌 )

  16. Shuya Kaneko, Asami Shimbo, Hitoshi Irabu, Maho Hatano, Kei Takasawa, Takahiro Kamiya, Keiji Akamine, Takayuki Tanaka, Toshinori Minato, Makoto Ono, Koji Yokoyama, Atsuko Arisaka, Takahiro Yasumi, Kazuyuki Ueno, Shuhei Fujita, Yumi Tanaka, Daisuke Hayashi, Hiroki Nishikawa, Yuji Fujita, Yuki Yuza, Masaaki Mori, Tomohiro Morio, Masaki Shimizu: Pathogenic role and diagnostic utility of interferon-α in histiocytic necrotizing lymphadenitis. Clin Immunol. 2024.07; 266 110324. ( PubMed , DOI )

  17. Francesco Baldo, Remco G A Erkens, Mao Mizuta, Greta Rogani, Federica Lucioni, Claudia Bracaglia, Dirk Foell, Marco Gattorno, Marija Jelusic, Jordi Anton, Paul Brogan, Scott Canna, Shanmuganathan Chandrakasan, Randy Q Cron, Fabrizio De Benedetti, Alexei Grom, Merav Heshin-Bekenstein, AnnaCarin Horne, Raju Khubchandani, Seza Ozen, Pierre Quartier, Angelo Ravelli, Masaki Shimizu, Grant Schulert, Christiaan Scott, Rashmi Sinha, Nicolino Ruperto, Joost F Swart, Sebastiaan Vastert, Francesca Minoia, : Current treatment in macrophage activation syndrome worldwide: a systematic literature review to inform the METAPHOR project. Rheumatology (Oxford). 2024.07; ( PubMed , DOI )

  18. Tanja C Vallée, Jannik S Glasmacher, Hannes Buchner, Peter D Arkwright, Uta Behrends, Anastasia Bondarenko, Michael J Browning, David Buchbinder, Alessandro Cattoni, Liudmyla Chernyshova, Peter Ciznar, Theresa Cole, Wojciech Czogała, Gregor Dueckers, John David M Edgar, Fatih Erbey, Anders Fasth, Francesca Ferrua, Renata Formankova, Eleonora Gambineri, Andrew R Gennery, Frederick D Goldman, Luis I Gonzalez-Granado, Carsten Heilmann, Tarja Heiskanen-Kosma, Hanna Juntti, Leena Kainulainen, Hirokazu Kanegane, Neslihan E Karaca, Sara S Kilic, Christoph Klein, Sylwia Kołtan, Irina Kondratenko, Isabelle Meyts, Gulnara M Nasrullayeva, Lucia D Notarangelo, Srdjan Pasic, Isabelle Pellier, Claudio Pignata, Siraj Misbah, Ansgar Schulz, Gesmar R Segundo, Anna Shcherbina, Mary Slatter, Robert Sokolic, Pere Soler-Palacin, Polina Stepensky, Joris M van Montfrans, Samppa Ryhänen, Beata Wolska-Kuśnierz, John B Ziegler, Xiaodong Zhao, Alessandro Aiuti, Hans D Ochs, Michael H Albert: Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival. Blood. 2024.06; 143 (24): 2504-2516. ( PubMed , DOI )

  19. Rintaro Ono, Kenichi Sakamoto, Ko Kudo, Aki Sato, Kazuko Kudo, Hisanori Fujino, Yuta Kawahara, Hiroya Hashimoto, Takehiko Doi, Ryu Yanagisawa, Toyotaka Kawamata, Osamu Miyazaki, Atsuko Nakazawa, Yasunori Ota, Hirokazu Kanegane, Yozo Nakazawa, Keizo Horibe, Akiko M Saito, Atsushi Manabe, Kensuke Usuki, Hitoshi Kiyoi, Akira Morimoto, Arinobu Tojo, Yoko Shioda: Phase II study in children and adults under 40 years with newly diagnosed Langerhans cell histiocytosis: protocol for an LCH-19-MSMFB clinical trial in Japan. BMJ Open. 2024.06; 14 (6): e084159. ( PubMed , DOI )

  20. Susumu Yamazaki, Masaki Shimizu, Ayane Yakabe, Eisuke Inage, Keisuke Jimbo, Mitsuyoshi Suzuki, Futaba Miyaoka, Shuya Kaneko, Hitoshi Irabu, Asami Shimbo, Yoshiyuki Ohtomo, Masaaki Mori, Tomohiro Morio, Toshiaki Shimizu: Successful treatment with tofacitinib for anti-melanoma differentiation-associated gene 5 antibody-positive juvenile dermatomyositis: case reports and review of the literature. Immunol Med. 2024.06; 47 (2): 110-117. ( PubMed , DOI )

  21. Noboru Uchida, Tomohiro Ishii, Gen Nishimura, Takeshi Sato, Gen Kuratsuji, Keisuke Nagasaki, Yuki Hosokawa, Eriko Adachi, Kei Takasawa, Kenichi Kashimada, Yuko Tsujioka, Tomonobu Hasegawa: RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review. Am J Med Genet A. 2024.06; 194 (6): e63562. ( PubMed , DOI )

  22. Sho Hashiguchi, Dan Tomomasa, Takuro Nishikawa, Shuji Ishikawa, Harumi Akaike, Hidehiko Kobae, Tsuyoshi Shirai, Toshikage Nagao, Kosuke Noma, Satoshi Okada, Kazuhiro Kamuro, Yasuhiro Okamoto, Hirokazu Kanegane: 18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency. J Clin Immunol. 2024.06; 44 (7): 154. ( PubMed , DOI )

  23. Dan Tomomasa, Beom Hee Lee, Yuki Hirata, Yuzaburo Inoue, Hidetaka Majima, Yusuke Imanaka, Takaki Asano, Takashi Katakami, Jina Lee, Atsushi Hijikata, Wittawin Worakitchanon, Xi Yang, Xiaowen Wang, Akira Watanabe, Katsuhiko Kamei, Yasufumi Kageyama, Go Hun Seo, Akihiro Fujimoto, Jean-Laurent Casanova, Anne Puel, Tomohiro Morio, Satoshi Okada, Hirokazu Kanegane: Inherited CARD9 Deficiency Due to a Founder Effect in East Asia. J Clin Immunol. 2024.05; 44 (5): 121. ( PubMed , DOI )

  24. Qin Zhao, Qian Zhao, Xuemei Tang, Yunfei An, Zhiyong Zhang, Dan Tomomasa, Atsushi Hijikata, Xi Yang, Hirokazu Kanegane, Xiaodong Zhao: Atypical familial hemophagocytic lymphohistiocytosis type 3 in children: A report of cases and literature review. Pediatr Allergy Immunol. 2024.05; 35 (5): e14136. ( PubMed , DOI )

  25. Miyamoto S, Niizato D, Tomomasa D, Nishimura A, Hoshino A, Kamiya T, Isoda T, Takagi M, Kajiwara M, Azumi S, Hirabayashi S, Sakamoto K, Kishimoto K, Miyamura T, Umeda K, Hirose A, Keino D, Yanagimachi M, Kanda K, Sakai Y, Ikawa Y, Watanabe K, Tanaka K, Mori T, Ichinohe T, Sakaguchi H, Morio T, Kanegane H: Allogeneic Hematopoietic cell Transplantation Using Alemtuzumab in Asian Patients with Inborn Errors of Immunity. Journal of clinical immunology. 2024.05; 44 (6): 126. ( PubMed , DOI )

  26. Manabu S, Nawa N, Noguchi Y, Taki A, Kashimada A, Honda I, Koyama A, Okazaki K, Kondo M, Miyahara H, Ito K, Yamauchi T, Kondo T, Honda-Ozaki F, Kusuda S, Morioka C, Fujiwara T, Morio T, Kashimada K: Stage III Chorioamnionitis Is Associated with Reduced Risk of Severe Retinopathy of Prematurity. The Journal of pediatrics. 2024.05; 114085. ( PubMed , DOI )

  27. Ishii T, Nawa N, Hosokawa S, Morio T, Fujiwara T: Exploring viral infections' role in Kawasaki disease onset: A study during the COVID-19 pandemic. Journal of medical virology. 2024.05; 96 (5): e29660. ( PubMed , DOI )

  28. Yuri Hayashida, Maho Hatano, Kazuyuki Ito, Manabu Sugie, Junko Kunieda, Masaki Shimizu, Tomohiro Morio, Chikako Morioka: Case Report: A neonatal case of cryopyrin-associated periodic syndrome with severe funisitis and neonatal asphyxia. Front Pediatr. 2024.05; 12 1397412. ( PubMed , DOI )

  29. Takashi Ishikawa, Kenichi Nishimura, Nami Okamoto, Keiji Akamine, Natsumi Inoue, Hitoshi Irabu, Kentaro Kato, Hiroshi Keino, Masayo Kojima, Hiroshi Kubo, Kazuichi Maruyama, Mao Mizuta, Kosuke Shabana, Masaki Shimizu, Yuko Sugita, Yukiko Takakuwa, Satoshi Takanashi, Hiroshi Takase, Hiroaki Umebayashi, Natsuka Umezawa, Shingo Yamanishi, Kazuko Yamazaki, Masato Yashiro, Takahiro Yasumi, Masaaki Mori: Efficacy and safety of tumor necrosis factor inhibitors for systemic juvenile idiopathic arthritis: a systematic review. Mod Rheumatol. 2024.05; ( PubMed , DOI )

  30. Kenichi Nishimura, Takashi Ishikawa, Nami Okamoto, Keiji Akamine, Natsumi Inoue, Hitoshi Irabu, Kentaro Kato, Hiroshi Keino, Masayo Kojima, Hiroshi Kubo, Kazuichi Maruyama, Mao Mizuta, Kosuke Shabana, Masaki Shimizu, Yuko Sugita, Yukiko Takakuwa, Satoshi Takanashi, Hiroshi Takase, Hiroaki Umebayashi, Natsuka Umezawa, Shingo Yamanishi, Kazuko Yamazaki, Masato Yashiro, Takahiro Yasumi, Masaaki Mori: Efficacy and safety of abatacept for systemic juvenile idiopathic arthritis: a systematic review. Mod Rheumatol. 2024.05; ( PubMed , DOI )

  31. Yuichi Nagamatsu, Takeshi Isoda, Motoki Inaji, Jun Oyama, Daiki Niizato, Dan Tomomasa, Noriko Mitsuiki, Motoi Yamashita, Takahiro Kamiya, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi: Intracranial residual lesions following early intensification in a patient with T-cell acute lymphoblastic leukemia: a case report. BMC Pediatr. 2024.05; 24 (1): 304. ( PubMed , DOI )

  32. Shoichiro Tateishi, Shoichi Shimizu, Kunihiko Moriya, Hirokazu Kanegane, Kohsuke Imai: A deep intronic BTK variant underlies X-linked agammaglobulinemia. J Clin Immunol. 2024.04; 44 (4): 89. ( PubMed , DOI )

  33. Wenguang Jia, Xiaoqin Chen, Jianming Luo, Vikram Sumbly, Hirokazu Kanegane, Yunyan He: Case report: emapalumab treatment for a pediatric Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) patient with cytokine storm enabling allogeneic hematopoietic cell transplantation. Transl Pediatr. 2024.04; 13 (4): 663-672. ( PubMed , DOI )

  34. 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. 2024.04; 119 (4): 383-391. ( PubMed , DOI )

  35. Hirokazu Kanegane, Akifumi Endo, Satoshi Okada, Hidenori Ohnishi, Masataka Ishimura, Ryuta Nishikomori, Kohsuke Imai, Shigeaki Nonoyama, Hideki Muramatsu, Taizo Wada, Atsushi Kuga, Ko Sakamoto, Sharon Russo-Schwarzbaum, Liang-Hui Chu, Barbara McCoy, Zhaoyang Li, Leman Yel: Pharmacokinetics, safety, and efficacy of 20% subcutaneous immunoglobulin (Ig20Gly) administered weekly or every 2 weeks in Japanese patients with primary immunodeficiency diseases: a phase 3, open-label study. Immunother Adv. 2024.03; 4 (1): ltae001. ( PubMed , DOI )

  36. 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 )

  37. 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. 2024.02; 43 (2): e71-e73. ( PubMed , DOI )

  38. 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 )

  39. Miyamoto T, Izawa K, Masui S, Yamazaki A, Yamasaki Y, Matsubayashi T, Shiraki M, Ohnishi H, Yasumura J, Tomohiro K, Miyamae T, Matsubara T, Arakawa N, Ishige T, Takizawa T, Shimbo A, Shimizu M, Kimura N, Maeda Y, Maruyama Y, Shigemura T, Furuta J, Sato S, Tanaka H, Izumikawa M, Yamamura M, Hasegawa T, Kaneko H, Nakagishi Y, Nakano N, Iida Y, Nakamura T, Wakiguchi H, Hoshina T, Kawai T, Murakami K, Akizuki S, Morinobu A, Ohmura K, Eguchi K, Sonoda M, Ishimura M, Furuno K, Kashiwado M, Mori M, Kawahata K, Hayama K, Shimoyama K, Sasaki N, Ito T, Umebayashi H, Omori T, Nakamichi S, Dohmoto T, Hasegawa Y, Kawashima H, Watanabe S, Taguchi Y, Nakaseko H, Iwata N, Kohno H, Ando T, Ito Y, Kataoka Y, Saeki T, Kaneko U, Murase A, Hattori S, Nozawa T, Nishimura K, Nakano R, Watanabe M, Yashiro M, Nakamura T, Komai T, Kato K, Honda Y, Hiejima E, Yonezawa A, Bessho K, Okada S, Ohara O, Takita J, Yasumi T, Nishikomori R, Japan CAPS working group: Clinical characteristics of cryopyrin-associated periodic syndrome and long-term real-world efficacy and tolerability of canakinumab in Japan: results of a nationwide survey. Arthritis & rheumatology (Hoboken, N.J.). 2024.01; ( PubMed , DOI )

  40. 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 )

  41. 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 )

  42. T Tsubata, N Umezawa, T Yasumi, H Kanegane, S Yasuda: Impaired development of B cells with PRF1 variants in an adult Scand J Rheumatol. 2024.01; 53 (1): 74-76. ( PubMed , DOI )

  43. 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 )

  44. Kei Takasawa, Ryosei Iemura, Ryuta Orimoto, Haruki Yamano, Shizuka Kirino, Eriko Adachi, Yoko Saito, Kurara Yamamoto, Nozomi Matsuda, Shigeru Takishima, Kumi Shuno, Hanako Tajima, Manabu Sugie, Yuki Mizuno, Akito Sutani, Kentaro Okamoto, Michiya Masue, Tomohiro Morio, Kenichi Kashimada: Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience. Clin Pediatr Endocrinol. 2024; 33 (3): 187-194. ( PubMed , DOI )

  45. Masaki Shimizu: Clinical Features of Cytokine Storm Syndrome. Adv Exp Med Biol. 2024; 1448 33-42. ( PubMed , DOI )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

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  53. 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 )

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  56. 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 )

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  59. 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 )

  60. 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 )

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

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

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  2. 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 )

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  4. 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 )

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  30. 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 )

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  33. 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 )

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

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  2. 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

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  38. 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 )

  39. 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 )

  40. 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 )

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  42. 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 )

  43. 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 )

  44. 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 )

  45. 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 )

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

  47. 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 )

  48. 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 )

  49. 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 )

  50. 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 )

  51. 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 )

  52. 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 )

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

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  1. 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 )

  2. 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.

  3. 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.

  4. 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.

  5. Tomoda, T; Nishimura, A; Ono, R; Isoda, T; Inoue, M; Kamiya, T; Yanagimachi, M; Imai, K; Kanegane, H; Hasegawa, D; Morio, T; Manabe, A; Takagi, M: Clonal Evolution of Leukemia With MLL-AF9 from Myeloid to T-Lineage PEDIATRIC BLOOD & CANCER. 2019.12; 66 S111.

  6. 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 )

  7. 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 )

  8. 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 )

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  10. 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 )

  11. 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 )

  12. 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 )

  13. 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 )

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

  15. 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 )

  16. 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 )

  17. 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 )

  18. 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 )

  19. 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 )

  20. 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 )

  21. 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 )

  22. 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 )

  23. 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 )

  24. 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 )

  25. 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 )

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  27. 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 )

  28. 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 )

  29. 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.

  30. 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 )

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  33. 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 )

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  22. 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 )

  23. 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 )

  24. 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 )

  25. 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 )

  26. 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 )

  27. 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 )

  28. 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 )

  29. 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 )

  30. 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 )

  31. 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 )

  32. 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 )

  33. 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 )

  34. 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 )

  35. 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 )

  36. 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 )

  37. 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 )

  38. 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 )

  39. 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 )

  40. 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 )

  41. 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 )

  42. 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 )

  43. 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 )

  44. 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 )

  45. 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 )

  46. 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 )

  47. 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 )

  48. 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 )

  49. 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 )

  50. 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 )

  51. 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 )

  52. 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 )

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

  54. 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 )

  55. 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 )

  56. 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;

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

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

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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 )

  17. 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 )

  18. 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 )

  19. 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 )

  20. 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 )

  21. 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 )

  22. 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 )

  23. 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 )

  24. 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 )

  25. 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.

  26. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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 )

  17. 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 )

  18. 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 )

  19. 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 )

  20. 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 )

  21. 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 )

  22. 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 )

  23. 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 )

  24. 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 )

  25. 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 )

  26. 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 )

  27. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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 )

  17. 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 )

  18. 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 )

  19. 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 )

  20. 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 )

  21. 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 )

  22. 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 )

  23. 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 )

  24. 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 )

  25. 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 )

  26. 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 )

  27. 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 )

  28. 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 )

  29. 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 )

  30. 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 )

  31. 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 )

  32. 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 )

  33. 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 )

  34. 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 )

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

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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 )

  17. 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 )

  18. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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.

  9. 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 )

  10. 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 )

  11. 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.

  12. 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 )

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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 )

  17. 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 )

  1. 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.

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

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

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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 )

  1. 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 )

  2. 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.

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  1. 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 )

  2. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  1. 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 )

  2. 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.

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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.

  1. 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 )

  1. 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 )

  2. 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 )

  1. 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 )

  2. 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 )

  1. 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 )

  1. 鹿島田健一: つながる内分泌学-古典的な内分泌学から他分野への新たな展開- 小児科診療. 2024.10; 87 (10): 3.

  2. Masatoshi Takagi, Akira Nishimura: [Molecular profiling of myeloid/natural killer (NK) cell precursor acute leukemia]. Rinsho Ketsueki. 2024.09; 65 (9): 1179-1189. ( PubMed , DOI )

  3. 金子修也, 清水正樹: 血清サイトカインプロファイルおよびT細胞受容体レパトア解析を用いた川崎病およびmimickersの鑑別バイオマーカーの確立 アレルギーの臨床. 2024.08; 44 (600): 46-49.

  4. 鹿島田健一: 特集　思春期にある人々を取り巻く現状と課題【知っておきたい知識】思春期の身体的成熟と慢性疾患;内分泌科医の視点から 小児看護. 2024.08; 47 (8): 929-934.

  5. 多田歩未, 井上健斗, 金兼弘和: 免疫疾患をもつ子ども 小児内科 6月号. 2024.06; 56 (6): 1008-1014.

  6. 緒方瑛人, 川口晃司, 丹後結衣, 福井渉, 安積昌平, 高地貴行, 小倉妙美, 児玉洋平, 中野玲二, 堀越泰雄, 金兼弘和, 渡邉健一郎: 臍帯血移植を行った重症複合免疫不全症を伴うCHARGE症候群 日本小児血液・がん学会誌. 2024.05; 61 (1): 12-16. ( DOI )

  7. 田中俊博, 荒木かほる, 岡田雅彦, 金兼弘和, 多屋馨子, 塚原宏一, 長森恒久, 羽田敦子, 宮田一平, 山田全毅, 橋本浩一, 和田泰三, 片寄雅彦, 神野俊介, 亀井聡信, 清水博之, 新庄正宜 野村直子, 森雅亮: 感染症診断のための核酸検査に関するアンケート調査 小児感染症免疫. 2024.05; 36 (2): 183-194.

  8. 村上 てるみ, 絹巻 暁子, 小林 久人, 荒木 俊介, 糸永 知代, 岩本 典子, 大田 千晴, 小泉 美紀子, 眞田 和哉, 高澤 啓, 玉井 資, 玉崎 章子, 鉄原 健一, 松島 卓哉, 井原 健二, 丸尾 良浩, 日本小児科学会将来の小児科医を考える委員会: 将来の小児科医への提言2024 日本小児科学会雑誌. 2024.05; 128 (5): 758-762. ( 医中誌 )

  9. 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.

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

  11. 酢谷明人,鹿島田健一: 【これでマスター! 最新 産婦人科ホルモン療法】(第2章)B 女性医学　性分化異常 参加と婦人科　増刊号. 2024.03; 91 190-196.

  12. 佐藤薫、鹿島田健一: 【小児内分泌を楽しく学ぼう】ガイドライン,診断・治療の手引きをどう利用するか?　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. ( 医中誌 )

  13. 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 )

  14. 西川 慶也, 田中 孝之, 石塚 潤, 三木 智貴, 中島 光司, 大塚 沙樹, 末廣 穣, 大封 智雄, 赤杉 和宏, 美馬 隆宏, 金子 修也, 清水 正樹, 樋口 嘉久: COVID-19患者との濃厚接触急性期に心原性ショックを呈した小児多系統炎症性症候群 日本小児科学会雑誌. 2024.01; 128 (1): 28-35.

  15. 木島 英美, 横山 はるな, 岡田 麻理, 山村 悠, 中谷 久恵, 今井 雅子, 鈴木 奈都子, 金子 修也, 水野 朋子, 清水 正樹, 長澤 正之, 大柴 晃洋: 脳症とICU-acquired weaknessを合併した毒素性ショック症候群の1例 脳と発達. 2024.01; 56 (1): 58-62.

  1. 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.

  2. 鹿島田健一: 【これならわかる性分化疾患】基礎知識　性分化疾患とは 小児外科. 2023.12; 55 (12): 1264-1269. ( 医中誌 )

  3. 松田希,鹿島田健一: 【エキスパートが教える　小児の薬物治療】疾患別　H.内分泌・代謝疾患　思春期早発症 小児内科. 2023.11; 55 723-726. ( 医中誌 )

  4. 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 )

  5. 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.

  6. 鹿島田健一: 【成長曲線を書こう】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): 1303-1309. ( 医中誌 )

  7. 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 )

  8. 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 )

  9. 【目的・基準値・進め方がわかる　新生児の検査A to Z】(第3章)押さえておくべき新生児の検査　その他押さえておくべき検査　新生児マススクリーニング検査 with NEO2023秋季増刊. 2023.09; 268-273. ( 医中誌 )

  10. 鹿島田健一: 【目的・基準値・進め方がわかる　新生児の検査A to Z】(第3章)押さえておくべき新生児の検査　内分泌代謝系の検査　アンモニア with NEO2023秋季増刊. 2023.09; 224-228. ( 医中誌 )

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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 )

  18. Itakura Takuji, Sasaki Hirokazu, Hosoya Tadashi, Yamaguchi Taiki, Mimori Erika, Saimon Yukino, Iwai Hideyuki, Umezawa Natsuka, Kawata Daisuke, Kimura Naoki, Kurata Morito, Shimizu Masaki, Yasuda Shinsuke: A novel gain-of-function missense variant in PLCG2 associated with autoinflammation and hypergammaglobulinaemia RHEUMATOLOGY. 2023.04; 62 (11): e319-e321. ( PubMed , DOI )

  19. 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 )

  20. 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.

  21. 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.

  22. 高澤 啓: 【小児の治療方針】内分泌　低血糖 小児科診療. 2023.04; 86 (春増刊): 605-607. ( 医中誌 )

  23. 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 )

  24. 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 )

  25. 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 )

  26. 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 )

  27. 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.

  28. 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.

  29. 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 )

  1. 橋本病を合併した混合性結合組織病の1例　hypothyroid myopathyの鑑別の重要性 小児リウマチ. 2022.12; 13 (1): 43-47. ( 医中誌 )

  2. 金子 修也, 清水 正樹, 伊良部 仁, 真保 麻実, 山崎 晋, 森 雅亮: 色素性痒疹様皮疹を呈した全身型若年性特発性関節炎の1例 小児リウマチ. 2022.12; 13 (1): 54-58.

  3. 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.

  4. 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.

  5. 田中 里奈, 清水 正樹, 真保 麻実, 山崎 晋, 高澤 啓, 鹿島田 健一, 森尾 友宏, 森 雅亮: 橋本病を合併した混合性結合組織病の1例　hypothyroid myopathyの鑑別の重要性 小児リウマチ. 2022.12; 13 (1): 43-47. ( 医中誌 )

  6. 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.

  7. 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.

  8. 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.

  9. 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 )

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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 )

  16. 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.

  17. 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 )

  18. 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 )

  19. 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 )

  20. 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 )

  21. 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 )

  22. 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.

  23. 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.

  24. 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 )

  25. 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 )

  26. 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.

  27. 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 )

  28. 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.

  29. 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 )

  30. 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.

  31. 金兼 弘和, 井上 健斗, 谷田 けい: 先天性免疫異常症における感染症治療と感染予防 日本免疫不全・自己炎症学会雑誌. 2022.01; 1 (1): 13-23.

  32. 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 )

  1. 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.

  2. 宮本 智史: 【小児疾患診療のための病態生理2　改訂第6版】免疫不全　DNA損傷応答異常症　毛細血管拡張性運動失調症 小児内科. 2021.12; 53 (増刊): 710-715. ( 医中誌 )

  3. 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 )

  4. 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 )

  5. 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

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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.

  10. 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.

  11. 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.

  12. 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 )

  13. 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.

  14. 宮本智史, 金兼弘和: RINKETSU Dictionary　TRECs/KRECs 臨床血液. 2021.07; 62 (7): 869. ( 医中誌 )

  15. 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.

  16. 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 )

  17. 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.

  18. 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 )

  19. 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 )

  20. 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.

  21. 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.

  22. 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.

  23. 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 )

  24. 太田 未咲, 岡村 直樹, 萬 和馬, 鈴木 利理, 田渕 雄大, 坂下 智博, 杉田 真太朗, 高澤 啓: 卵巣甲状腺乳頭癌の1例 市立釧路総合病院医学雑誌. 2021.03; 33 (1): 59-62. ( 医中誌 )

  25. 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.

  26. 宇都宮 朱里, 栗栖 優佳, 中川 竜一, 高澤 啓, 鹿島田 健一: CYP21A2欠失とTNXB部分欠失を認め遺伝カウンセリングを行った21-水酸化酵素欠損症の男児例 日本マス・スクリーニング学会誌. 2021.02; 31 (3): 301-307. ( 医中誌 )

  27. 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.

  28. 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.

  29. 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.

  30. 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 )

  31. 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.

  1. 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.

  2. 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.

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

  13. 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 )

  14. 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 )

  15. 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.

  16. 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.

  17. 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 )

  18. 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 )

  19. 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 )

  20. 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 )

  21. 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 )

  22. 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 )

  23. 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.

  24. 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.

  25. 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 )

  26. 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.

  27. 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 )

  28. 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 )

  29. 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 )

  30. 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.

  31. 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 )

  32. 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 )

  33. 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 )

  34. 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 )

  35. 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 )

  1. 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 )

  2. 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 )

  3. 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.

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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.

  17. 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 )

  18. 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 )

  19. 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 )

  20. 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 )

  21. 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.

  22. 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 )

  23. 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 )

  24. 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 )

  25. 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 )

  26. 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 )

  27. 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.

  28. 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 )

  29. 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 )

  30. 金兼弘和: IPEX症候群 医学のあゆみ. 2019.03; 268 (13): 1223-1228.

  31. 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 )

  32. 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 )

  33. 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 )

  34. 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 )

  35. 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 )

  36. 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 )

  37. 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 )

  38. 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 )

  39. 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.

  40. 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 )

  41. Hirokazu Kanegane, Akihiro Hoshino: [Inherited lymphoproliferative disorders]. Rinsho Ketsueki. 2019; 60 (6): 708-715. ( PubMed , DOI )

  42. 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;

  43. 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 )

  44. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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.

  6. 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 )

  7. 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 )

  8. 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.

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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.

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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 )

  17. 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 )

  18. 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 )

  19. 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 )

  20. 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 )

  21. 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 )

  22. 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 )

  23. 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 )

  24. 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 )

  25. 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 )

  26. 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 )

  27. 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 )

  28. 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.

  29. 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 )

  30. 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 )

  31. 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 )

  32. 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 )

  33. 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.

  34. 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 )

  35. 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.

  36. 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 )

  37. 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 )

  38. 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 )

  39. 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.

  40. 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 )

  41. 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.

  42. 下山 輝義, 高橋 暁子, 高澤 啓, 西岡 正人, 下平 雅之: 心肺蘇生後に、早期再分極を伴うQT短縮症候群と診断した14歳の一例 日本小児救急医学会雑誌. 2018.02; 17 (1): 116-119. ( 医中誌 )

  43. 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 )

  44. 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 )

  45. 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 )

  46. 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 )

  47. 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.

  48. 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 )

  49. 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 )

  50. 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 )

  51. 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;

  52. 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 )

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

  54. 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.

  1. 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 )

  2. 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 )

  3. 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.

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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 )

  10. 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 )

  11. 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.

  12. 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 )

  13. 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.

  14. 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 )

  15. 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 )

  16. 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 )

  17. 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 )

  18. 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 )

  19. 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 )

  20. 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.

  21. 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 )

  22. 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.

  23. 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 )

  24. 長崎 啓祐, 窪田 拓生, 小林 弘典, 澤田 浩武, 沼倉 周彦, 原田 正平, 高澤 啓, 南谷 幹史, 石井 智弘, 岡田 賢, 鎌崎 穂高, 杉原 茂孝, 安達 昌功, 田島 敏広, 日本小児内分泌学会マス・スクリーニング委員会: 先天性中枢性甲状腺機能低下症の診療状況の全国調査 日本マス・スクリーニング学会誌. 2017.05; 27 (1): 9-15. ( 医中誌 )

  25. 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 )

  26. 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 )

  27. 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 )

  28. 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 )

  29. 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 )

  30. 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 )

  31. 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 )

  32. 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 )

  33. 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 )

  34. 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 )

  35. 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.

  36. 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 )

  37. 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 )

  38. 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 )

  39. 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 )

  40. 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 )

  41. 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.

  42. 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.

  43. 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.

  44. 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 )

  1. 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 )

  2. 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.

  3. 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.

  4. 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 )

  5. 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.

  6. 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.

  7. 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 )

  8. 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 )

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

  1. 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.

  2. 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

  3. 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 )

  4. 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 )

  5. 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.

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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.

  10. 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.

  11. 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.

  1. 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.

  2. 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.

  1. 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 )

  2. 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.

  3. 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.

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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.

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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.

  6. 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.

  1. 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.

  1. 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 )

  2. 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 )

  1. 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.

  1. 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.

  1. 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 )

  2. 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 )

  1. 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 )

  2. 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 )

  3. 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.

  4. 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.

  1. 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 )

  2. 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.

  3. 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 )

  4. 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.

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