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  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  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 )

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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  18. 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 )

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  20. 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 )

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  24. Masakatsu Yanagimachi, Takashi Ohya, Tomoko Yokosuka, Ryosuke Kajiwara, Fumiko Tanaka, Hiroaki Goto, Takehiro Takashima, Tomohiro Morio, Shumpei Yokota: The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome. J. Clin. Immunol.. 2016.04; 36 (5): 511-516. ( PubMed , DOI )

  25. Julie Toubiana, Satoshi Okada, Julia Hiller, Matias Oleastro, Macarena Lagos Gomez, Juan Carlos Aldave Becerra, Marie Ouachée-Chardin, Fanny Fouyssac, Katta Mohan Girisha, Amos Etzioni, Joris Van Montfrans, Yildiz Camcioglu, Leigh Ann Kerns, Bernd Belohradsky, Stéphane Blanche, Aziz Bousfiha, Carlos Rodriguez-Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen D Renner, Sergio Rosenzweig, Bodo Grimbacher, Frank L van de Veerdonk, Claudia Traidl-Hoffmann, Capucine Picard, Laszlo Marodi, Tomohiro Morio, Masao Kobayashi, Desa Lilic, Joshua D Milner, Steven Holland, Jean-Laurent Casanova, Anne Puel: Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype: an international survey of 274 patients from 167 kindreds. Blood. 2016.04; 127 (25): 3154-3164. ( PubMed , DOI )

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

  3. 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 )

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  5. 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 )

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  8. 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 )

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  13. 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 )

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

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

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

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  8. 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 )

  9. 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 )

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  13. 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 )

  14. 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 )

  15. 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 )

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  24. 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 )

  25. 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 )

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

  27. 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 )

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

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

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  3. 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. ( ichushi )

  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 )

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  23. 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 )

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

  25. 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 )

  26. 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 )

  27. 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 )

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

  29. 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 )

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

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

  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. 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 )

  8. 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 )

  9. 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.

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

  11. 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 )

  12. 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.

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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 )

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

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

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

  20. 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 )

  21. 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 )

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

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

  24. 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 )

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

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

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

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

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

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

  3. 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.

  4. 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 )

  5. 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 )

  6. 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 )

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

  8. 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 )

  9. 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 )

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

  11. 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 )

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

  13. 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 )

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

  15. 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 )

  16. 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 )

  17. 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 )

  18. 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 )

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

  6. 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 )

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

  8. 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 )

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

  10. 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 )

  11. 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 )

  12. 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 )

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

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

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

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

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

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

  3. 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 )

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

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

  6. 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.

  7. 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 )

  8. 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 )

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

  10. 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 )

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

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

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

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

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

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

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

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

  5. 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 )

  6. 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 )

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

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

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

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

  11. 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 )

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

  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 )

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

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

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

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

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

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

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

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

  3. Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, Kaneko H, Kondo N, Tsuge I, Yachie A, Sakiyama Y, Iwata T, Bessho F, Ohishi T, Joh K, Imai K, Kogawa K, Shinohara M, Fujieda M, Wakiguchi H, Pasic S, Abinun M, Ochs HD, Renner ED, Jansson A, Belohradsky BH, Metin A, Shimizu N, Mizutani S, Miyawaki T, Nonoyama S, Karasuyama H: Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006.11; 25 (5): 745-755. ( PubMed , DOI )

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

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

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

  7. 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 )

  8. 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 )

  9. 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 )

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

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

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

  2. 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 )

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

  4. 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 )

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

  6. 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.

  7. Kohsuke Imai, Yi Zhu, Patrick Revy, Tomohiro Morio, Shuki Mizutani, Alain Fischer, Shigeaki Nonoyama, Anne Durandy: Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. Clin. Immunol.. 2005.06; 115 (3): 277-285. ( PubMed , DOI )

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

  9. 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 )

  10. 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.

  11. 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 )

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

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

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

  4. 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 )

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

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

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

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

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

  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 )

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

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

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

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

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

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

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

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  2. Kento Inoue, Hirokazu Kanegane: Defects in innate immunity : vulnerability to virus and bacterial infections 2021.02; (53): 777-82.

  3. Viral infections after hematopoietic cell transplantation and treatment with virus-specific T-cell therapies. 2021; 62 (8): 1334-1342.

  1. Kanegane H, Hoshino A, Takagi M: Primary immunodeficiencies and hematological malignancies Rinsho Ketsueki (The Japanese journal of clinical hematology). 2018.12; 59 (11): 2459-2467. ( DOI )

  2. Konishi K, Hashimoto A, Mashita M, Sera Y, Kashimada K: The Revised Criteria for Newborn Mass Screening of Congenital Adrenal Hyperplasia in Tokyo 2018.07; 501 38-40.

  3. Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age 2018.01; 27 (1): 31-38. ( ichushi )

  4. Akira Nishimura, Shinsuke Hirabayashi, Shunsuke Yamamoto, Saori Aiga, Misa Nishitani, Yosuke Hosoya, Shinichiro Mori, Daisuke Hasegawa, Atsushi Manabe: Bone marrow transplantation with reduced intensity conditioning for Diamond-Blackfan anemia The Japanese Journal of Pediatric Hematology/ Oncology. 2018;

  1. Taku Ishii, Tadahiro Yoshikawa, Satoshi Yazaki, Mika Saito, Akio Inage, Yuji Hamamichi, Naoki Wada, Makoto Ando, Yukihiro Takahashi, In-Sam Park: Midterm Surgical Outcomes and Effectiveness of Conversion Operations in Total Cavopulmonary Connection Pediatric Cardiology and Cardiac Surgery. 2016.07; 32 (4): 307-313.

  1. Taku Ishii, Akihito Sasaki, Yusuke Kajikawa, Koji Kiyohara, Kiyohiro Takigiku, Satoshi Yasukouchi, Shozaburo Doi: A case of One-Year-Old Boy with Severe Idiopathic Dilated Cardiomyopathy, Followed by Normalization of Left Ventricular Function after Cardiac Resynchronization Therapy Pediatric Cardiology and Cardiac Surgery. 2013.11; 29 (６): 345-351.

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