Dan Tomomasa, Madoka Nishimura, Ayami Ohya, Kay Tanita, Ryosuke Wakatsuki, Ryohei Watanabe, Satoshi Miyamoto, Akihiro Hoshino, Takahiro Kamiya, Takeshi Isoda, Shuya Kaneko, Masaki Shimizu, Atsushi Hijikata, Katsuhide Eguchi, Masataka Ishimura, Yukako Maeda, Kazushi Izawa, Takaaki Meguro, Kosuke Fujimoto, Etsuko Ishikita-Murayama, Kyogo Suzuki, Eri Okura, Tomoko Uehara, Tomotada Takayama, Satoshi Okada, Masatoshi Takagi, Tomohiro Morio, Rebecca A Marsh, Hirokazu Kanegane: Comprehensive flow cytometry-based diagnosis of XIAP deficiency Clin Exp Immunol. 2025.03; ( PubMed , DOI )

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

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

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

Inoue K, Tomomasa D, Nakagama Y, Takeuchi H, Tanaka Y, Tanimoto K, Kamiya T, Isoda T, Takagi M, Tanaka K, Yoshifuji K, Miwa Y, Ohnishi H, Okada S, Mori T, Yasuda S, Kido Y, Morio T, Kanegane H: Real-world experience of tixagevimab/cilgavimab prophylaxis in Japanese patients with immunodeficiency. Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy. 2024.12; 31 (2): 102577. ( PubMed , DOI )

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

Shunsuke Kimura, Chun Shik Park, Lindsey E Montefiori, Ilaria Iacobucci, Petri Polonen, Qingsong Gao, Elizabeth D Arnold, Andishe Attarbaschi, Anthony Brown, Barbara Buldini, Kenneth J Caldwell, Yunchao Chang, Chelsey Chen, Cheng Cheng, Zhongshan Cheng, John Choi, Valentino Conter, Kristine R Crews, Hester A de Groot-Kruseman, Takao Deguchi, Mariko Eguchi, Hannah Elisa Muhle, Sarah Elitzur, Gabriele Escherich, Burgess B Freeman, Zhaohui Gu, Katie Han, Keizo Horibe, Toshihiko Imamura, Sima Jeha, Motohiro Kato, Kean Hui Chiew, Tanya Khan, Michal Kicinski, Stefan Kohrer, Steven M Kornblau, Rishi S Kotecha, Chi-Kong Li, Yen-Chun Liu, Franco Locatelli, Selina M Luger, Elisabeth M Paietta, Atsushi Manabe, Hanne Vibeke Marquart, Riccardo Masetti, Mellissa Maybury, Pauline Mazilier, Jules P P Meijerink, Sharnise Mitchell, Takako Miyamura, Andrew S Moore, Koichi Oshima, Katarzyna Pawinska-Wasikowska, Rob Pieters, Mollie S Prater, Shondra M Pruett-Miller, Ching-Hon Pui, Chunxu Qu, Michaela Reiterova, Noemi Reyes, Kathryn G Roberts, Jacob M Rowe, Atsushi Sato, Kjeld Schmiegelow, Martin Schrappe, Shuhong Shen, Szymon Skoczen, Orietta Spinelli, Jan Stary, Michael Svaton, Masatoshi Takagi, Junko Takita, Yanjing Tang, David T Teachey, Paul G Thomas, Daisuke Tomizawa, Jan Trka, Elena Varotto, Tiffaney L Vincent, Jun J Yang, Allen Ej Yeoh, Yinmei Zhou, Martin Zimmermann, Hiroto Inaba, Charles G Mullighan: Biologic and clinical analysis of childhood gamma delta T-ALL identifies LMO2/STAG2 rearrangements as extremely high-risk. Cancer Discov. 2024.10; 14 (10): 1838-1859. ( PubMed , DOI )

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

Catherine Metayer, Logan G Spector, Michael E Scheurer, Soyoung Jeon, Rodney J Scott, Masatoshi Takagi, Jacqueline Clavel, Atsushi Manabe, Xiaomei Ma, Elleni M Hailu, Philip J Lupo, Kevin Y Urayama, Audrey Bonaventure, Motohiro Kato, Aline Meirhaeghe, Charleston W K Chiang, Libby M Morimoto, Joseph L Wiemels: Folate metabolism and risk of childhood acute lymphoblastic leukemia: a genetic pathway analysis from the Childhood Cancer and Leukemia International Consortium. Cancer Epidemiol Biomarkers Prev. 2024.09; 33 (9): 1248-1252. ( PubMed , DOI )

Sarah Elitzur, Ruth Shiloh, Jan L C Loeffen, Agata Pastorczak, Masatoshi Takagi, Simon Bomken, Andre Baruchel, Thomas Lehrnbecher, Sarah K Tasian, Oussama Abla, Nira Arad-Cohen, Itziar Astigarraga, Miriam Ben-Harosh, Nicole Bodmer, Triantafyllia Brozou, Francesco Ceppi, Liliia Chugaeva, Luciano Dalla Pozza, Stephane Ducassou, Gabriele Escherich, Roula Farah, Amber Gibson, Henrik Hasle, Julieta Hoveyan, Elad Jacoby, Janez Jazbec, Stefanie Junk, Alexandra Kolenova, Jelena Lazic, Luca Lo Nigro, Nizar Mahlaoui, Lane Miller, Vassilios Papadakis, Lucie Pecheux, Marta Pillon, Ifat Sarouk, Jan Stary, Eftichia Stiakaki, Marion Strullu, Thai Hoa Tran, Marek Ussowicz, Jaime Verdu-Amoros, Anna Wakulinska, Joanna Zawitkowska, Dominique Stoppa-Lyonnet, A Malcolm Taylor, Yosef Shiloh, Shai Izraeli, Veronique Minard-Colin, Kjeld Schmiegelow, Ronit Nirel, Andishe Attarbaschi, Arndt Borkhardt: ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies. Blood. 2024.09; 144 (11): 1193-1205. ( PubMed , DOI )

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

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

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

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

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

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

Huan-Ting Lin, Masatoshi Takagi, Kenji Kubara, Kazuto Yamazaki, Fumiko Michikawa, Takashi Okumura, Takuya Naruto, Tomohiro Morio, Koji Miyazaki, Hideki Taniguchi, Makoto Otsu: Monoallelic KRAS (G13C) mutation triggers dysregulated expansion in induced pluripotent stem cell-derived hematopoietic progenitor cells. Stem Cell Res Ther. 2024.04; 15 (1): 106. ( PubMed , DOI )

Kae Takagi, Yui Namikawa, Masayuki Nagasawa, Masahiro Mae, Yoshihiko Watanabe, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi: Somatic variant profiling of a thymoma in Good Syndrome. Clinical Immunology Communications. 2024.02; (5): 12-19. ( DOI )

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

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

Takagi Masatoshi, Tomoyasu Chihiro, Yamanaka Junko, Hamabata Takayuki, Isoda Takeshi, Miyamura Takako, Imai Kohsuke: 小児急性リンパ芽球性白血病の患児で行った免疫学的評価(Immunological assessment of a patient with infant acute lymphoblastic leukemia) Pediatrics International. 2024; 66 (1): ped.15738. ( ichushi )

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

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

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 )

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Miyamoto, S; Koizumi, M; Hiroki, H; Nishimura, A; Ota, S; Imai, K; Kanegane, H; Morio, T; Honda, H; Takagi, M: A PAX5 GERMLINE VARIANT IN A PATIENT WITH COMMON VARIABLE IMMUNODEFICIENCY COMPLICATED WITH B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA PEDIATRIC BLOOD & CANCER. 2022.11; 69

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

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

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

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

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

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

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Niizato D, Isoda T, Mitsuiki N, Kaneko S, Tomomasa D, Kamiya T, Takagi M, Imai K, Kajiwara M, Shimizu M, Morio T, Kanegane H: Case report: Optimized ruxolitinib-based therapy in an infant with familial hemophagocytic lymphohistiocytosis type 3. Frontiers in immunology. 2022; 13 977463. ( PubMed , DOI )

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

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

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

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

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

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

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

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

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

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

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

Pilania RK, Rawat A, Vignesh P, Guleria S, Jindal AK, Das G, Suri D, Gupta A, Gupta K, Chan KW, Lau YL, Imai K, Singh S.: Liver Abscess in Chronic Granulomatous Disease-Two Decades of Experience from a Tertiary Care Centre in North-West India. J Clin Immunol. 2021.04; 41 (3): 552-564. ( PubMed , DOI )

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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. ( ichushi )

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Shimbo Asami, Takasawa Kei, Nishioka Masato, Morio Tomohiro, Shimohira Masayuki: 免疫正常小児2例に生じたリステリア髄膜炎(Complications of Listeria meningitis in two immunocompetent children) Pediatrics International. 2018.05; 60 (5): 491-492. ( ichushi )

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

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. 2018.05; ( PubMed , DOI )

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Oshima K, Saiki N, Tanaka M, Imamura H, Niwa A, Tanimura A, Nagahashi A, Hirayama A, Okita K, Hotta A, Kitayama S, Osawa M, Kaneko S, Watanabe A, Asaka I, Fujibuchi W, Imai K, Yabe H, Kamachi Y, Hara J, Kojima S, Tomita M, Soga T, Noma T, Nonoyama S, Nakahata T, Saito MK.: Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors. Biochem. Biophys. Res. Commun.. 2018.03; 497 (2): 719-725. ( PubMed , DOI )

Jennifer W Leiding, Satoshi Okada, David Haginn E Sullivan, Nancy Bunin, Sara Sebnem Kilic, Fikret Arpaci, Oscar , Mario Abinun, Anna Shcherbina, Dmitry N Balashov, Vy H D Kim, Adi Ovadia, Stephen L Guthery, Michael Pulsipher, Desa Lilic, Lisa A Devlin, Sharon Christie, Mark Depner, Sebastian Fuchs, Annet van Royen-Kerkhof, Caroline Lindemans, Aleksandra Petrovic, Kathleede la Calle-Martin, Laura Martinez-Martinez, Juan Carlos Aldave, Masao Kobayashi, Teppei Ohkawa, Kohsuke Imai, Akihiro Iguchi, Chaim M Roifman, Andrew R Gennery, Mary Slatter, Hans D Ochs, Tomohiro Morio, Troy R Torgerson, : Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations. J. Allergy Clin. Immunol.. 2018.02; 141 (2): 704-717.e5. ( PubMed , DOI )

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

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 )

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 )

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Wehr C, Gennery AR, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, Meyer D, Grigoleit G, Einsele H, Baumann U, Witte T, Sykora KW, Goldacker S, Regairaz L, Aksoylar S, Ardeniz Ö, Zecca M, Zdziarski P, Meyts , Matthes-Martin S, Imai K, Kamae C, Fielding A, Seneviratne S, Mahlaoui N, Slatter MA, Güngör T, Arkwright PD28, van Montfrans J, Sullivan KE, Grimbacher B, Cant A, Peter HH, Finke J, Gaspar HB, Warnatz K, Rizzi M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiency.: Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency. J. Allergy Clin. Immunol.. 2015.04; 135 (4): 988-97.e6. ( PubMed , DOI )

Rintaro Ono, Daisuke Hasegawa, Shinsuke Hirabayashi, Takahiro Kamiya, Kenichi Yoshida, Satoko Yonekawa, Chitose Ogawa, Ryota Hosoya, Tsutomu Toki, Kiminori Terui, Etsuro Ito, Atsushi Manabe: Acute megakaryoblastic leukemia with acquired trisomy 21 and GATA1 mutations in phenotypically normal children. Eur. J. Pediatr.. 2015.04; 174 (4): 525-531. ( PubMed , DOI )

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

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

Tojo Nakayama, Yuko Sato, Mitsugu Uematsu, Masatoshi Takagi, Setsuko Hasegawa, Satoko Kumada, Atsuo Kikuchi, Naomi Hino-Fukuyo, Yoji Sasahara, Kazuhiro Haginoya, Shigeo Kure: Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia. Brain Dev.. 2015.03; 37 (3): 362-365. ( PubMed , DOI )

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

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

Aoki Yuki, Watanabe Takashi, Saito Yoriko, Kuroki Yoko, Hijikata Atsushi, Takagi Masatoshi, Tomizawa Daisuke, Eguchi Mariko, Eguchi-Ishimae Minenori, Kaneko Akiko, Ono Rintaro, Sato Kaori, Suzuki Nahoko, Fujiki Saera, Koh Katsuyoshi, Ishii Eiichi, Shultz Leonard D, Ohara Osamu, Mizutani Shuki, Ishikawa Fumihiko: Identification of CD34+ and CD34- leukemia-initiating cells in MLL-rearranged human acute lymphoblastic leukemia. Blood. 2015.02; 125 (6): 967-980. ( PubMed , DOI )

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

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

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

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

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

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

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

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 )

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 )

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 )

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

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

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

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

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

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

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

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

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

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 )

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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 )

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Shigeta T, Takagi M, Delia D, Chessa L, Iwata S, Kanke Y, Asada M, Eguchi M, Mizutani S.: Defective control of apoptosis, radiosensitivity, and spindle checkpoint in ataxia telangiectasia. Cancer Res. 1998.11; 58 (21): 4923-4929. ( PubMed )

Takagi M, Takahiashi K, Maruyama T, Kaneko K, Obinata K, Tadokoro R, Kastumata K, Miura Y, Fujita H, Tokita A, Ishimoto K, Yabuta K: Acute lymphoblastic leukemia accompanied by severe hypercalcemia: successful treatment including aminohydroxypropylidene bisphosphonate (pamidronate disodium) Pediatr Hematol Oncol. 1998.05; 15 (3): 283-286. ( PubMed )

Kaneko K, Takahashi K, Unno A, Takagi M, Maruyama T, Obinata K, Tsuchihashi N, Kawashiro N, Sakai H: Lingual cyst in infancy: importance of palpation for diagnosis. Acta Paediatr Jpn. 1997.08; 39 (4): 475-477. ( PubMed )

Goi K, Takagi M, Iwata S, Delia D, Asada M, Donghi R, Tsunematsu Y, Nakazawa S, Yamamoto H, Yokota J, Tamura K, Saeki Y, Utsunomiya J, Takahashi T, Ueda R, Ishioka C, Eguchi M, Kamata N, Mizutani S: DNA damage-associated dysregulation of the cell cycle and apoptosis control in cells with germ-line p53 mutation. Cancer Res. 1997.05; 57 (10): 1895-1902. ( PubMed )

Takagi M, Unno A, Maruyama T, Kaneko K, Obinata K: Human herpesvirus-6 (HHV-6)-associated hemophagocytic syndrome. Pediatr Hematol Oncol. 1996.09; 13 (5): 451-456. ( PubMed )

Kaneko K, Unno A, Takagi M, Maruyama T, Obinata K: Kawasaki disease in dizygotic twins. Eur J Pediatr. 1995.10; 154 (10): 868. ( PubMed )

Kusumoto Yasuka, Imai Kohsuke, Ohyama Yoshio, Fukayama Haruhisa, Shinozuka Osamu: Oral management of a patient with down syndrome and agammaglobulinemia: a case report BMC ORAL HEALTH. 2020.03; 20 (1): ( DOI )

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 )

Masatoshi Takagi, Kevin Urayama: Inherited genetic variants associated with childhood lymphoblastic leukemia risk. The Japanese Journal of Clinical Hematology. 2016.07; 57 (7): 891-899. ( DOI , ichushi )

Diseases Caused by Dysregulation of DNA Damage Response (Including Ataxia Telangiectasia) Diagnosis and Treatment Based on Pathophysiology of Pediatric Disease 5th Edition, 2015 Separate volume 2. 2015.11; 47 691-696.

Masatoshi Takagi: Genetics of hereditary hematological malignancies. 2015.10; 56 (10): 1969-1977. ( PubMed , DOI , ichushi )

Secondary immune thrombocytopenia associated with primary immunodeficiency Rinshoketsueki. 2013.04; 54 (4): 357-364. ( PubMed )