東京医科歯科大学小児科

東京医科歯科大学小児科は、日常的な小児医療から難病の治療まで、
患者様の立場に立った優しい医療を行っています。

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業績

2020年 業績集

東京医科歯科大学大学院医歯学総合研究科年報 2020年

研究業績(原著論文)
  1. Nishimura A, Hirabayashi S, Hasegawa D, Yoshida K, Shiraishi Y, Ashiarai M, Hosoya Y, Fujiwara T, Harigae H, Miyano S, Ogawa S, Manabe A. Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome Pediatric Blood and Cancer. 2020;
  2. Pandiarajan Vignesh, Amit Rawat, Rajni Kumrah, Ankita Singh, Anjani Gummadi, Madhubala Sharma, Anit Kaur, Johnson Nameirakpam, Ankur Jindal, Deepti Suri, Anju Gupta, Alka Khadwal, Biman Saikia, Ranjana Walker Minz, Kaushal Sharma, Mukesh Desai, Prasad Taur, Vijaya Gowri, Ambreen Pandrowala, Aparna Dalvi, Neha Jodhawat, Priyanka Kambli, Manisha Rajan Madkaikar, Sagar Bhattad, Stalin Ramprakash, Raghuram Cp, Ananthvikas Jayaram, Meena Sivasankaran, Deenadayalan Munirathnam, Sarath Balaji, Aruna Rajendran, Amita Aggarwal, Komal Singh, Fouzia Na, Biju George, Ankit Mehta, Harsha Prasada Lashkari, Ramya Uppuluri, Revathi Raj, Sandip Bartakke, Kirti Gupta, Sreejesh Sreedharanunni, Yumi Ogura, Tamaki Kato, Kohsuke Imai, Koon Wing Chan, Daniel Leung, Osamu Ohara, Shigeaki Nonoyama, Michael Hershfield, Yu-Lung Lau, Surjit Singh. Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India. Front Immunol. 2020; 11; 619146
  3. Amit Rawat, Ankur Kumar Jindal, Deepti Suri, Pandiarajan Vignesh, Anju Gupta, Biman Saikia, Ranjana W Minz, Aaqib Zaffar Banday, Rahul Tyagi, Kanika Arora, Vibhu Joshi, Sanjib Mondal, Jitendra Kumar Shandilya, Madhubala Sharma, Mukesh Desai, Prasad Taur, Ambreen Pandrowala, Vijaya Gowri, Sneha Sawant-Desai, Maya Gupta, Aparna Dhondi Dalvi, Manisha Madkaikar, Amita Aggarwal, Revathi Raj, Ramya Uppuluri, Sagar Bhattad, Ananthvikas Jayaram, Harsha Prasad Lashkari, Liza Rajasekhar, Deenadayalan Munirathnam, Manas Kalra, Anuj Shukla, Ruchi Saka, Rajni Sharma, Ravinder Garg, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Pamela P Lee, Koon Wing Chan, Yu-Lung Lau, Surjit Singh. Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India. Front Immunol. 2020; 11; 612323
  4. Akito Sutani, Hirohito Shima, Atsushi Hijikata, Susumu Hosokawa, Yuko Fukui, Kei Takasawa, Erina Suzuki, Shozaburou Doi, Tsuyoshi Shirai, Tomohiro Morio, Maki Fukami, Kenichi Kashimada. WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome. Eur J Med Genet. 2020.01; 63(1); 103626
  5. Nadia Y Edelsztein, Kenichi Kashimada, Helena F Schteingart, Rodolfo A Rey. CYP26B1 declines postnatally in Sertoli cells independently of androgen action in the mouse testis. Mol. Reprod. Dev. 2020.01; 87(1); 66-77
  6. Stuart G Tangye, Waleed Al-Herz, Aziz Bousfiha, Talal Chatila, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Capucine Picard, Jennifer Puck, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020.01; 40(1); 24-64
  7. Aziz Bousfiha, Leila Jeddane, Capucine Picard, Waleed Al-Herz, Fatima Ailal, Talal Chatila, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan, Stuart G Tangye. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. J Clin Immunol. 2020.01; 40(1); 66-81
  8. Stuart G Tangye, Waleed Al-Herz, Aziz Bousfiha, Talal Chatila, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Capucine Picard, Jennifer Puck, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan. Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020.01; 40(1); 65
  9. Tomonori Suzuki, Kuniko Kohyama, Kengo Moriyama, Mariko Ozaki, Setsuko Hasegawa, Taro Ueno, Minoru Saitoe, Tomohiro Morio, Masaharu Hayashi, Hiroshi Sakuma. Extracellular ADP augments microglial inflammasome and NF-κ B activation via the P2Y12 receptor. Eur. J. Immunol. 2020.02; 50(2); 205-219
  10. Takahiro Fukaishi, Isao Minami, Seizaburo Masuda, Yasutaka Miyachi, Kazutaka Tsujimoto, Hajime Izumiyama, Koshi Hashimoto, Masayuki Yoshida, Sayako Takahashi, Kenichi Kashimada, Tomohiro Morio, Kenjiro Kosaki, Yoshiro Maezawa, Koutaro Yokote, Takanobu Yoshimoto, Tetsuya Yamada. A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles. Endocr. J. 2020.02; 67(2); 211-218
  11. 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
  12. Takuro Nishikawa, Ken Okamura, Mizuki Moriyama, Kenji Watanabe, Atsuko Ibusuki, Seiji Sameshima, Izumi Masamoto, Ieharu Yamazaki, Kay Tanita, Takuro Kanekura, Hirokazu Kanegane, Tamio Suzuki, Yoshifumi Kawano. Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2. J. Dermatol. 2020.02; 47(2); 185-189
  13. 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
  14. 鈴木智典, 神谷尚宏, 山内泰輔, 井上健斗, 鹿島田彩子, 東賢良, 瀬川裕子, 水野朋子, 高木正稔, 森尾友宏. 低ガンマグロブリン血症を認めたInfantile systemic hyalinosis の一例 日本小児科学会雑誌. 2020.02; 124(2); 406
  15. Sato Yuki, Ochiai Ryota, Ishizaki Yuko, Nishida Toshihiko, Miura Kenichiro, Taki Atsuko, Tani Yumi, Naito Mariko, Takahashi Yoshimitsu, Yaguchi-Saito Akiko, Hattori Motoshi, Nakayama Takeo. Validation of the Japanese Transition Readiness Assessment Questionnaire PEDIATRICS INTERNATIONAL. 2020.02; 62(2); 221-228
  16. 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
  17. Susumu Yamazaki, Asami Shimbo, Yuko Akutsu, Hiroshi Takase, Tomohiro Morio, Masaaki Mori. Importance of pediatric rheumatologists and transitional care for juvenile idiopathic arthritis-associated uveitis: a retrospective series of 9 cases Pediatr Rheumatol Online J. 2020.03; 18(1); 26
  18. 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
  19. 大原智子, 岩田はる香, 四手井綱則, 勝碕静香, 滝敦子, 岡本健太郎, 森尾友宏. 胎児エコーで十二指腸閉鎖症が疑われた新生児肝嚢胞の 1 例 日本小児科学会雑誌. 2020.03; 124(3); 585-586
  20. Minako Mori, Asuka Hira, Kenichi Yoshida, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Michiko Anmae, Jun Yasuda, Shu Tadaka, Kengo Kinoshita, Tomoo Osumi, Yasushi Noguchi, Souichi Adachi, Ryoji Kobayashi, Hiroshi Kawabata, Kohsuke Imai, Tomohiro Morio, Kazuo Tamura, Akifumi Takaori-Kondo, Masayuki Yamamoto, Satoru Miyano, Seiji Kojima, Etsuro Ito, Seishi Ogawa, Keitaro Matsuo, Hiromasa Yabe, Miharu Yabe, Minoru Takata. Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients Haematologica. 2020.04; 105(4); 1166-1167
  21. Tzu-Wen Yeh, Tsubasa Okano, Takuya Naruto, Motoi Yamashita, Miko Okamura, Kay Tanita, Likun Du, Qiang Pan-Hammarstr¨om, Noriko Mitsuiki, Satoshi Okada, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio. APRIL-dependent life-long plasmacyte maintenance and immunoglobulin production in humans J. Allergy Clin. Immunol. 2020.04; S0091-6749(20); 30432-2
  22. 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
  23. 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
  24. 亀井宏一, 佐藤舞, 村越未希, 鈴木竜太郎, 釜江智佳子, 金森透, 西健太朗, 小椋雅夫. リツキシマブ単回投与後B 細胞枯渇中に再発した難治性ネフローゼ症候群の臨床的特徴 日本小児腎臓病学会雑誌. 2020.04; 33(1); 23-28
  25. 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
  26. Hiroshi Yoshino, Yohei Nishiyama, Hiroshi Kamma, Tomohiro Chiba, Masachika Fujiwara, Takehiro Karaho, Yasunao Kogashiwa, Tomohiro Morio, Kunimasa Yan, Fumio Bessho, Masatoshi Takagi. Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood. Int J Hematol. 2020.05; 112(2); 217-222
  27. 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
  28. Inoue K, Miura H, Hoshino A, Kamiya T, Tanita K, Ohye T, Park MJ, Yanagimachi M, Takagi M, Imai K, Morio T, Yoshikawa T, Kanegane H. Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency. Transpl Infect Dis. 2020.05; e13331
  29. 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
  30. 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
  31. Hiroshi Ureshino, Shuichi Koarada, Kazuharu Kamachi, Mariko Yoshimura, Masako Yokoo, Yasushi Kubota, Toshihiko Ando, Tatsuo Ichinohe, Tomohiro Morio, Shinya Kimura. Immune dysregulation syndrome with de novo CTLA4 germline mutation responsive to abatacept therapy. Int J Hematol. 2020.06; 111(6); 897-902
  32. Katsutsugu Umeda, Kohsuke Imai, Masakatsu Yanagimachi, Hiromasa Yabe, Masao Kobayashi, Yoshiyuki Takahashi, Michiko Kajiwara, Nao Yoshida, Yuko Cho, Masami Inoue, Yoshiko Hashii, Yoshiko Atsuta, Tomohiro Morio. Impact of graft-versus-host disease on the clinical outcome of allogeneic hematopoietic stem cell transplantation for non-malignant diseases. Int J Hematol. 2020.06; 111(6); 869-876
  33. 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;
  34. Jean-Laurent Casanova, Helen C Su. A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection. Cell. 2020.06; 181(6); 1194-1199
  35. Miho Maeda, Akira Morimoto, Yoko Shioda, Takeshi Asano, Yuhki Koga, Yozo Nakazawa, Hirokazu Kanegane, Kazuko Kudo, Shouichi Ohga, Eiichi Ishii. Long-term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan. Pediatr Blood Cancer. 2020.07; 67(7); e28381
  36. Tsubasa Okano, Kohsuke Imai, Takuya Naruto, Satoshi Okada, Motoi Yamashita, Tzu-Wen Yeh, Shintaro Ono, Keisuke Tanaka, Keisuke Okamoto, Kay Tanita, Kazuaki Matsumoto, Etsushi Toyofuku, Eri Kumaki-Matsumoto, Miko Okamura, Hiroo Ueno, Seishi Ogawa, Osamu Ohara, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity. The Journal of Clinical Immunology. 2020.07; 40(5); 729-740
  37. Kensaku Kohrogi, Masahiro Migita, Tadashi Anan, Takeshi Sugahara, Kazuhiko Yoshimoto, Hirokazu Kanegane, Kimitoshi Nakamura. Successful Artery Embolization in a Patient with Autoimmune Lymphoproliferative Syndrome Associated with Splenic Rupture. J. Clin. Immunol. 2020.07; 40(5); 780-782
  38. Nakano Y, Komiya C, Shimizu H, Mishima H, Shiba K, Tsujimoto K, Ikeda K, Kashimada K, Dateki S, Yoshiura KI, Ogawa Y, Yamada T. A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5. Endocrine journal. 2020.07;
  39. Masakatsu Yanagimachi, Koji Kato, Akihiro Iguchi, Koji Sasaki, Chikako Kiyotani, Katsuyoshi Koh, Takashi Koike, Hideki Sano, Tomonari Shigemura, Hideki Muramatsu, Keiko Okada, Masami Inoue, Ken Tabuchi, Toyoki Nishimura, Tomoyuki Mizukami, Hiroyuki Nunoi, Kohsuke Imai, Masao Kobayashi, Tomohiro Morio. Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan Front Immunol. 2020.07; 11; 1617
  40. 亀井宏一, 野津寛大, 長野智那, 釜江智佳子, 村越未希, 鈴木竜太郎, 金森透, 西健太朗, 佐藤舞, 小椋雅夫, 飯島一誠. INF2 の遺伝子変異が判明した 2 名 日本小児腎不全学会雑誌. 2020.07; 40; 222-225
  41. Hisashi Ishida, Yuji Miyajima, Nobuyuki Hyakuna, Satoru Hamada, Takeo Sarashina, Risa Matsumura, Katsutsugu Umeda, Tetsuo Mitsui, Naoto Fujita, Daisuke Tomizawa, Kevin Y Urayama, Yasushi Ishida, Takashi Taga, Masatoshi Takagi, Souichi Adachi, Atsushi Manabe, Toshihiko Imamura, Katsuyoshi Koh, Akira Shimada, Leukemia/Lymphoma Committee of the Japanese Society of Pediatric Hematology Oncology (JSPHO). Clinical features of children with polycythemia vera, essential thrombocythemia, and primary myelofibrosis in Japan: A retrospective nationwide survey. eHaem. 2020.07; 1(1); 86-93
  42. 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
  43. 宇田川智宏, 奥津美夏, 岡田麻理, 多田憲正, 田中絵里子, 元吉八重子. 初期治療中に一過性寛解を経たステロイド抵抗性ネフローゼ症候群の 10 例 日本腎臓学会誌. 2020.07; 62(4); 267
  44. Moriya K, Suzuki T, Uchida N, Nakano T, Katayama S, Irie M, Rikiishi T, Niizuma H, Okada S, Imai K, Sasahara Y, Kure S. Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation. The International Journal of Hematology. 2020.08; 112(2); 258-262
  45. Yoshida M, Tanase-Nakao K, Shima H, Shirai R, Yoshida K, Osumi T, Deguchi T, Mori M, Arakawa Y, Takagi M, Miyamura T, Sakaguchi K, Toyoda H, Ishida H, Sakata N, Imamura T, Kawahara Y, Morimoto A, Koike T, Yagasaki H, Ito S, Tomizawa D, Kiyokawa N, Narumi S, Kato M. Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7. British journal of haematology. 2020.08;
  46. Mitsuru Mizuno, Kentaro Endo, Hisako Katano, Ayako Tsuji, Naomi Kojima, Ken Watanabe, Norio Shimizu, Tomohiro Morio, Ichiro Sekiya. The environmental risk assessment of cell-processing facilities for cell therapy in a Japanese academic institution. PLoS ONE. 2020.08; 15(8); e0236600
  47. Tomoo Osumi, Satoshi Yoshimura, Mayumi Sako, Toru Uchiyama, Takashi Ishikawa, Toshinao Kawai, Eisuke Inoue, Tetsuya Takimoto, Ichiro Takeuchi, Masaki Yamada, Kenichi Sakamoto, Kaoru Yoshida, Yui Kimura, Yukihiro Matsukawa, Kana Matsumoto, Ken-Ichi Imadome, Katsuhiro Arai, Takao Deguchi, Kohsuke Imai, Yuki Yuza, Kimikazu Matsumoto, Masafumi Onodera, Hirokazu Kanegane, Daisuke Tomizawa, Motohiro Kato. A prospective study of allogeneic hematopoietic stem cell transplantation with post-transplantation cyclophosphamide and anti-thymoglobulin from HLA-mismatched related donors for non-malignant diseases. Biol. Blood Marrow Transplant. 2020.08;
  48. Futaba Miyaoka, Etsushi Toyofuku, Takeshi Isoda, Tomohiro Moiro, Hirokazu Kanegane. Influenza-induced hemolytic crisis in glucose-6-phosphate dehydrogenase deficiency. Pediatr Int. 2020.08; 62(8); 1003-1004
  49. Daniel Leung, Gilbert T Chua, Alric V Mondragon, Youjia Zhong, Le Nguyen-Ngoc-Quynh, Kohsuke Imai, Pandiarajan Vignesh, Narissara Suratannon, Huawei Mao, Wen-I Lee, Yae-Jean Kim, Godfrey C F Chan, Woei Kang Liew, Le Thi Minh Huong, Hirokazu Kanegane, Dina Muktiarti, Xiaodong Zhao, Fatima Johanna Santos-Ocampo, Amir Hamzah Abdul Latiff, Reinhard Seger, Hans D Ochs, Surjit Singh, Pamela P Lee, Yu Lung Lau. Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific. Front Immunol. 2020.08; 11; 1605
  50. Yatsuga Shuichi, Amano Naoko, Nakamura-Utsunomiya Akari, Kobayashi Hironori, Takasawa Kei, Nagasaki Keisuke, Nakamura Akie, Nishigaki Satsuki, Numakura Chikahiko, Fujiwara Ikuma, Minamitani Kanshi, Hasegawa Tomonobu, Tajima Toshihiro. Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan. ENDOCRINE JOURNAL. 2020.08; 67(8); 853-857
  51. Nishi K, Sato M, Ogura M, Okutsu M, Ishikura K, Kamei K. Two cases of idiopathic steroid-resistant nephrotic syndrome complicated with thrombotic microangiopathy BMC Nephrol. 2020.08; 21(1); 323
  52. Tomoya Kaneda, Eriko Tanaka, Yuko Akutsu, Toru Kanamori, Mariko Mouri, Tomohiro Morio, Masaaki Mori. Refractory secondary thrombotic microangiopathy with kidney injury associated with systemic lupus erythematosus in a pediatric patient CEN Case Rep. 2020.09; 9(4); 301-307
  53. Sonoko Sakata, Miyuki Tsumura, Tadashi Matsubayashi, Shuhei Karakawa, Shunsuke Kimura, Moe Tamaura, Tsubasa Okano, Takuya Naruto, Yoko Mizoguchi, Reiko Kagawa, Shiho Nishimura, Kohsuke Imai, Tom Le Voyer, Jean-Laurent Casanova, Jacinta Bustamante, Tomohiro Morio, Osamu Ohara, Masao Kobayashi, Satoshi Okada. Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations Int Immunol. 2020.09; 32(10); 663-671
  54. Takashi Uchida, Tasuku Suzuki, Atsuo Kikuchi, Fumihiko Kakuta, Takashi Ishige, Yoshiko Nakayama, Hirokazu Kanegane, Yuri Etani, Tatsuki Mizuochi, Shin-Ichi Fujiwara, Ryusuke Nambu, Kazuhide Suyama, Masanori Tanaka, Atsushi Yoden, Daiki Abukawa, Yoji Sasahara, Shigeo Kure. Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea. J Pediatr Gastroenterol Nutr. 2020.09; 71(3); 333-339
  55. Yasushi Kasahara, Masaru Imamura, Chansu Shin, Hiroshi Shimizu, Jirou Utsumi, Ryosuke Hosokai, Haruko Iwabuchi, Takayuki Takachi, Akiyoshi Kakita, Hirokazu Kanegane, Akihiko Saitoh, Chihaya Imai. Fatal Progressive Meningoencephalitis Diagnosed in Two Members of a Family With X-Linked Agammaglobulinemia. Front Pediatr. 2020.09; 8; 579
  56. Kazuki Nemoto, Toshinori Kawanami, Takayuki Hoshina, Masataka Ishimura, Kei Yamasaki, Satoshi Okada, Hirokazu Kanegane, Kazuhiro Yatera, Koichi Kusuhara. Impaired B-Cell Differentiation in a Patient With STAT1 Front Immunol. 2020.09; 11; 557521
  57. Ida H, Maruyama D, Maeshima AM, Kamiya T, Morio T, Izutsu K. Duodenal nodular lymphoid hyperplasia in a patient with IgA deficiency Clin Case Rep. 2020.09; 8(12); 3594-3595
  58. Okutsu Mika, Kamei Koichi, Sato Mai, Kanamori Toru, Nishi Kentaro, Ishiwa Sho, Ogura Masao, Sako Mayumi, Ito Shuichi, Ishikura Kenji. Prophylactic rituximab administration in children with complicated nephrotic syndrome PEDIATRIC NEPHROLOGY. 2020.09;
  59. Satoshi Sato, Takuma Ohnishi, Yoji Uejima, Mihoko Furuichi, Shuichiro Fujinaga, Kohsuke Imai, Kimitoshi Nakamura, Yutaka Kawano, Eisuke Suganuma. Induction therapy with rituximab for lupus nephritis due to prolidase deficiency. Rheumatology (Oxford). 2020.10; 59(10); e57-e59
  60. Takeru Yamauchi, Masatoshi Imamura, Kei Takasawa, Keisuke Nakajima, Ryuichi Nakagawa, Maki Gau, Manabu Sugie, Atsuko Taki, Masahiko Kawai, Kenichi Kashimada, Tomohiro Morio. Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants Endocrine. 2020.10; 70(1); 71-77
  61. Qian Zhang, Paul Bastard, Zhiyong Liu, J´er´emie Le Pen, Marcela Moncada-Velez, Jie Chen, Masato Ogishi, Ira K D Sabli, Stephanie Hodeib, Cecilia Korol, J´er´emie Rosain, Kaya Bilguvar, Junqiang Ye, Alexandre Bolze, Benedetta Bigio, Rui Yang, Andr´es Augusto Arias, Qinhua Zhou, Yu Zhang, Fanny Onodi, Sarantis Korniotis, L´ea Karpf, Quentin Philippot, Marwa Chbihi, Lucie Bonnet-Madin, Karim Dorgham, Nika¨ıa Smith, William M Schneider, Brandon S Razooky, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Leen Moens, Ji Eun Han, Lazaro Lorenzo, Lucy Bizien, Philip Meade, Anna-Lena Neehus, Aileen Camille Ugurbil, Aur´elien Corneau, Gaspard Kerner, Peng Zhang, Franck Rapaport, Yoann Seeleuthner, Jeremy Manry, Cecile Masson, Yohann Schmitt, Agatha Schlu¨ter, Tom Le Voyer, Taushif Khan, Juan Li, Jacques Fellay, Lucie Roussel, Mohammad Shahrooei, Mohammed F Alosaimi, Davood Mansouri, Haya Al-Saud, Fahd Al-Mulla, Feras Almourfi, Saleh Zaid Al-Muhsen, Fahad Alsohime, Saeed Al Turki, Rana Hasanato, Diederik van de Beek, Andrea Biondi, Laura Rachele Bettini, Mariella D’Angio’, Paolo Bonfanti, Luisa Imberti, Alessandra Sottini, Simone Paghera, Eugenia Quiros-Roldan, Camillo Rossi, Andrew J Oler, Miranda F Tompkins, Camille Alba, Isabelle Vandernoot, Jean-Christophe Goffard, Guillaume Smits, Isabelle Migeotte, Filomeen Haerynck, Pere Soler-Palacin, Andrea Martin-Nalda, Roger Colobran, Pierre-Emmanuel Morange, Sevgi Keles, Fatma C¸ ¨olkesen, Tayfun Ozcelik, Kadriye Kart Yasar, Sevtap Senoglu, S¸emsi Nur Karabela, Carlos Rodr´ıguez-Gallego, Giuseppe Novelli, Sami Hraiech, Yacine Tandjaoui-Lambiotte, Xavier Duval, C´edric Laou´enan, Andrew L Snow, Clifton L Dalgard, Joshua D Milner, Donald C Vinh, Trine H Mogensen, Nico Marr, Andr´as N Spaan, Bertrand Boisson, St´ephanie Boisson-Dupuis, Jacinta Bustamante, Anne Puel, Michael J Ciancanelli, Isabelle Meyts, Tom Maniatis, Vassili Soumelis, Ali Amara, Michel Nussenzweig, Adolfo Garc´ıa-Sastre, Florian Krammer, Aurora Pujol, Darragh Duffy, Richard P Lifton, Shen-Ying Zhang, Guy Gorochov, Vivien B´eziat, Emmanuelle Jouanguy, Vanessa Sancho-Shimizu, Charles M Rice, Laurent Abel, Luigi D Notarangelo, Aur´elie Cobat, Helen C Su, Jean-Laurent Casanova. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Science. 2020.10; 370(6515);
  62. Paul Bastard, Lindsey B Rosen, Qian Zhang, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Yu Zhang, Karim Dorgham, Quentin Philippot, J´er´emie Rosain, Vivien B´eziat, J´er´emy Manry, Elana Shaw, Liis Haljasm¨agi, P¨art Peterson, Lazaro Lorenzo, Lucy Bizien, Sophie Trouillet-Assant, Kerry Dobbs, Adriana Almeida de Jesus, Alexandre Belot, Anne Kallaste, Emilie Catherinot, Yacine Tandjaoui-Lambiotte, Jeremie Le Pen, Gaspard Kerner, Benedetta Bigio, Yoann Seeleuthner, Rui Yang, Alexandre Bolze, Andr´as N Spaan, Ottavia M Delmonte, Michael S Abers, Alessandro Aiuti, Giorgio Casari, Vito Lampasona, Lorenzo Piemonti, Fabio Ciceri, Kaya Bilguvar, Richard P Lifton, Marc Vasse, David M Smadja, M´elanie Migaud, J´erome Hadjadj, Benjamin Terrier, Darragh Duffy, Lluis Quintana-Murci, Diederik van de Beek, Lucie Roussel, Donald C Vinh, Stuart G Tangye, Filomeen Haerynck, David Dalmau, Javier Martinez-Picado, Petter Brodin, Michel C Nussenzweig, St´ephanie Boisson-Dupuis, Carlos Rodr´ıguez-Gallego, Guillaume Vogt, Trine H Mogensen, Andrew J Oler, Jingwen Gu, Peter D Burbelo, Jeffrey I Cohen, Andrea Biondi, Laura Rachele Bettini, Mariella D’Angio, Paolo Bonfanti, Patrick Rossignol, Julien Mayaux, Fr´ed´eric Rieux-Laucat, Eystein S Husebye, Francesca Fusco, Matilde Valeria Ursini, Luisa Imberti, Alessandra Sottini, Simone Paghera, Eugenia Quiros-Roldan, Camillo Rossi, Riccardo Castagnoli, Daniela Montagna, Amelia Licari, Gian Luigi Marseglia, Xavier Duval, Jade Ghosn, John S Tsang, Raphaela Goldbach-Mansky, Kai Kisand, Michail S Lionakis, Anne Puel, Shen-Ying Zhang, Steven M Holland, Guy Gorochov, Emmanuelle Jouanguy, Charles M Rice, Aur´elie Cobat, Luigi D Notarangelo, Laurent Abel, Helen C Su, Jean-Laurent Casanova. Autoantibodies against type I IFNs in patients with life-threatening COVID-19 Science. 2020.10; 370(6515);
  63. Keisuke Okamoto, Tomohiro Morio, Yoshikazu Nakamura, Hiroshi Hataya, Koichi Mizuta, Masaaki Mori. Hospitalisations due to respiratory syncytial virus infection in children with Down syndrome before and after palivizumab recommendation in Japan. Acta Paediatr. 2020.10;
  64. Jose Carlo Miguel M Villanueva, Koon-Wing Chan, Remedios C Ong, Agnes G Andaya, Yu-Lung Lau, Menno C van Zelm, Hirokazu Kanegane. Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines. Front Pediatr. 2020.10; 8; 604725
  65. 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
  66. 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
  67. Tomoko Matsuda, Naotomo Kambe, Yoko Ueki, Nobuo Kanazawa, Kazushi Izawa, Yoshitaka Honda, Atsushi Kawakami, Syuji Takei, Kyoko Tonomura, Masami Inoue, Hiroko Kobayashi, Ikuo Okafuji, Yoshihiko Sakurai, Naoki Kato, Yuta Maruyama, Yuzaburo Inoue, Yoshikazu Otsubo, Teruhiko Makino, Satoshi Okada, Ichiro Kobayashi, Masato Yashiro, Shusaku Ito, Hiroshi Fujii, Yasuhiro Kondo, Nami Okamoto, Shuichi Ito, Naomi Iwata, Utako Kaneko, Mototsugu Doi, Junichi Hosokawa, Osamu Ohara, Megumu K Saito, Ryuta Nishikomori; PIDJ members in the JSIAD; PIDJ (Primary Immunodeficiency and Autoinflammatory Diseases Database Project) members in the JSIAD (Japanese Society for Immunodeficiency and Autoinflammatory Diseases). Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation Ann Rheum Dis. 2020.11; 79(11); 1492-1499
  68. Tomohiro Ishii, Toshihiro Tajima, Kenichi Kashimada, Tokuo Mukai, Yusuke Tanahashi, Noriyuki Katsumata, Junko Kanno, Takashi Hamajima, Kenichi Miyako, Shinobu Ida, Tomonobu Hasegawa. Clinical features of 57 patients with lipoid congenital adrenal hyperplasia: criteria for nonclassic form revisited. J Clin Endocrinol Metab. 2020.11; 105(11); dgaa557
  69. Hoshino A, Xi Y, Nakao T, Kato K, Fujiyama S, Koh K, Imamura T, Kanegane H. A Cry for the Development of Newborn Screening for Familial Hemophagocytic Lymphohistiocytosis. J Clin Immunol. 2020.11; 40(8); 1196-1198
  70. Kazuaki Matsumoto, Akihiro Hoshino, Akira Nishimura, Tamaki Kato, Yoshio Mori, Masaki Shimomura, Chie Naito, Kenichiro Watanabe, Minoru Hamazaki, Noriko Mitsuiki, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Hirokazu Kanegane, Tomohiro Morio. DNA Ligase IV Deficiency Identified by Chance Following Vaccine-Derived Rubella Virus Infection. J Clin Immunol. 2020.11; 40(8); 1187-1190
  71. Inoue K, Sasaki S, Yasumi T, Imai K, Kusunoki T, Morio T, Kanegane H. Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia. J Clin Immunol. 2020.11; 40(8); 1132-1137
  72. Pandiarajan Vignesh, Sathish Kumar Loganathan, Murugan Sudhakar, Himanshi Chaudhary, Amit Rawat, Megha Sharma, Aravind Shekar, Kim Vaiphei, Narender Kumar, Man-Updesh Singh Sachdeva, Ankur Kumar Jindal, Deepti Suri, Anju Gupta, Pallab Ray, Kohsuke Imai, Osamu Ohara, Shigeaki Nonoyama, Yu Lung Lau, Surjit Singh. Hemophagocytic Lymphohistiocytosis in Children with Chronic Granulomatous Disease-Single-Center Experience from North India. J Allergy Clin Immunol Pract. 2020.11;
  73. Xiaoyuan Jia, Tomohiko Yamamura, Rasheed Gbadegesin, Michelle T McNulty, Kyuyong Song, China Nagano, Yuki Hitomi, Dongwon Lee, Yoshihiro Aiba, Seik-Soon Khor, Kazuko Ueno, Yosuke Kawai, Masao Nagasaki, Eisei Noiri, Tomoko Horinouchi, Hiroshi Kaito, Riku Hamada, Takayuki Okamoto, Koichi Kamei, Yoshitsugu Kaku, Rika Fujimaru, Ryojiro Tanaka, Yuko Shima, Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan; Udagawa T et al, Jiwon Baek, Hee Gyung Kang, Il-Soo Ha, Kyoung Hee Han, Eun Mi Yang, Asiri Abeyagunawardena, Brandon Lane, Megan Chryst-Stangl, Christopher Esezobor, Adaobi Solarin, Claire Dossier, Georges Deschˆenes, Marina Vivarelli, Hanna Debiec, Kenji Ishikura, Masafumi Matsuo, Kandai Nozu, Pierre Ronco, Hae Il Cheong, Matthew G Sampson, Katsushi Tokunaga, Kazumoto Iijima. Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. Kidney Internatonal. 2020.11; 98(5); 1308-1322
  74. Nozomi Matsuda, Kei Takasawa, Yasuhisa Ohata, Shigeru Takishima, Takuo Kubota, Yasuki Ishihara, Makoto Fujiwara, Erika Ogawa, Tomohiro Morio, Kenichi Kashimada, Keiichi Ozono. Potential pathological role of single nucleotide polymorphism (c.787T> C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia Endocr. J. 2020.12; 67(12); 1227-1232
  75. Chiaki Hosoda, Takashi Ishiguro, Yoshihiko Shimizu, Hirokazu Kanegane, Noboru Takayanagi. Infection Presenting as an Endobronchial Polyp and Upper Lobe Atelectasis. Am J Respir Crit Care Med. 2020.12; 202(11); e144-e145
  76. 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
  77. Sugawara Y, Mizuno T, Moriyama K, Ishiwata H, Kato M, Nakashima M, Mizuguchi T, Matsumoto N. Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a < i> de novo CDK19< /i> variant. Neurology. Genetics. 2020.12; 6(6); e527
  78. Tomoda Takahiro, Kamiya Takahiro, Okano Tsubasa, Ashiarai Miho, Yoshihara Hiroki, Imai Kohsuke, Kanegane Hirokazu, Takagi Masatoshi, Hasegawa Daisuke, Morio Tomohiro. A Case of Relapsed Infant ALL with MLL Rearrangement Who Underwent CAR-T Cell Therapy PEDIATRIC BLOOD & CANCER. 2020.12; 67;
  79. Endo A, Yamashita M, Kamiya T, Mitsuiki N, Isoda T, Imai K, Takagi M, Kajiwara M, Kanegane H, Morio T. A Retrospective Study of Six Cases of HLA Haplo-Identical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide PEDIATRIC BLOOD & CANCER. 2020.12; 67;
  80. 森尾友宏. 【原発性免疫不全症候群-最新の疾患分類と新規疾患を中心に-】原発性免疫不全症候群総論 原発性免疫不全症候群 総論 日本臨床. 2020.12; 78(7); 11-18
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