2017 PUBLICATIONS

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
Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Kenji Kurosawa, Kenichi Kashimada, Tomohiro Morio. A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty. Horm Res Paediatr. 2017.01; 87(4); 217-216
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
Tasuku Suzuki, Yoji Sasahara, Atsuo Kikuchi, Humihiko Kakuta, Toshihiko Kashiwabara, Takashi Ishige, Yoshiko Nakayama, Masanori Tanaka, Akihiro Hoshino, Hirokazu Kanegane, Daiki Abukawa, Shigeo Kure. Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunod-eﬁciency Genes in Pediatric IBD: a Japanese Multicenter Study. J. Clin. Immunol. 2017.01; 37(1);
Chikako Morioka, Motohiro Komaki, Atsuko Taki, Izumi Honda, Naoki Yokoyama, Kengo Iwasaki, Sachiko Iseki, Tomohiro Morio, Ikuo Morita. Neuroprotective eﬀects of human umbilical cord-derived mesenchymal stem cells on periventricular leukomalacia-like brain injury in neonatal rats. Inﬂamm Regen. 2017.01; 37; 1
Miki Murakoshi, Kei Takasawa, Masato Nishioka, Masahiro Asakawa, Kenichi Kashimada, Takanobu Yoshimoto, Toshiyuki Yamamoto, Kazuhiro Takekoshi, Yoshihiro Ogawa, Masayuki Shimohira. Abdom-inal paraganglioma in a young woman with 1p36 deletion syndrome. Am. J. Med. Genet. A. 2017.02; 173(2); 495-500
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. 2017.02;
Kaori Hisa, Masakatsu D Yanagimachi, Takuya Naruto, Takako Miyamae, Masako Kikuchi, Rhoki Hara, Tomoyuki Imagawa, Shumpei Yokota, Masaaki Mori. PADI4 and the HLA-DRB1 shared epitope in juvenile idiopathic arthritis. PLoS ONE. 2017.02; 12(2); e0171961
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 Bax-endale, 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, Cate-rina 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
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
Yu Sasaki, Teruo Hidaka, Takashi Ueno, Miyuki Akiba-Takagi, Juan Alejandro Oliva Trejo, Takuto Seki, Yoshiko Nagai-Hosoe, Eriko Tanaka, Satoshi Horikoshi, Yasuhiko Tomino, Yusuke Suzuki, Katsuhiko Asanuma. Sorting Nexin 9 facilitates podocin endocytosis in the injured podocyte. Sci Rep. 2017.03; 7; 43921
Yayoi Kimura, Masakatsu Yanagimachi, Yoko Ino, Mao Aketagawa, Michie Matsuo, Akiko Okayama, Hiroyuki Shimizu, Kunihiro Oba, Ichiro Morioka, Tomoyuki Imagawa, Tetsuji Kaneko, Shumpei Yokota, Hisashi Hirano, Masaaki Mori. Identiﬁcation of candidate diagnostic serum biomarkers for Kawasaki disease using proteomic analysis. Sci Rep. 2017.03; 7; 43732
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
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;
Shimpei Baba, Yuji Sugawara, Kengo Moriyama, Motoki Inaji, Taketoshi Maehara, Toshiyuki Yamamoto, Tomohiro Morio. Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation. Brain Dev. 2017.04; 39(4); 341-344
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. Im-munol. 2017.04; 37(3); 319-328
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;
Nienke J H van Os, Anne F M Jansen, Marcel van Deuren, Asgeir Haraldsson, Nieke T M van Driel, Amos Etzioni, Michiel van der Flier, Charlotte A Haaxma, Tomohiro Morio, Amit Rawat, Michiel H D Schoenaker, Annarosa Soresina, Alexander M R Taylor, Bart P C van de Warrenburg, Corry M R Weemaes, Nel Roeleveld, Michèl A A P Willemsen. Ataxia-telangiectasia: Immunodeﬁciency and survival. Clin. Immunol.. 2017.05; 178; 45-55
Haruna Yokoyama, Shimpei Baba, Jun Oyama, Kengo Moriyama, Tomohiro Morio. Early hypoperfusion on arterial spin labeling may be a diagnostic marker for acute encephalopathy with biphasic seizures and late reduced diﬀusion. Brain Dev.. 2017.05; 39(8); 722
Masatoshi Takagi, Yasuyoshi Ishiwata, Yuki Aoki, Satoshi Miyamoto, Akihiro Hoshino, Kazuaki Mat-sumoto, Akira Nishimura, Mari Tanaka, Masakatsu Yanagimachi, Noriko Mitsuiki, Kohsuke Imai, Hi-rokazu Kanegane, Michiko Kajiwara, Kanako Takikawa, Tsukasa Mae, Osamu Tomita, Junya Fujimura, Masato Yasuhara, Daisuke Tomizawa, Shuki Mizutani, Tomohiro Morio. HLA haploidentical hematopoi-etic cell transplantation using clofarabine and busulfan for refractory pediatric hematological malignancy. Int J Hematol. 2017.05; 105(5); 686-691
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 dysgen-esis: international survey on clinical presentation, transplantation, and outcome Blood. 2017.05; 129(21); 2928-2938
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
Shirai Y, Goya M,Ohno S, Horie M, Doi S, Isobe M, Hirao K. Elimination of Ventricular Arrhythmia in Catecholaminergic Polymorphic Ventricular Tachycardia by Targeting "Catecholamine-Sensitive Area": A Dominant-Subordinate Relationship between Origin Sites of Bidirectional Ventricular Premature Con-tractions Pacing and Clinical Electrophysiology . 2017.05; 40; 600-604
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
Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep. 2017.06; 7(1); 3552
Yoshiko Hosoe-Nagai, Teruo Hidaka, Ayano Sonoda, Yu Sasaki, Kanae Yamamoto-Nonaka, Takuto Seki, Rin Asao, Eriko Tanaka, Juan Alejandro Oliva Trejo, Fumiko Kodama, Miyuki Takagi, Nobuhiro Tada, Takashi Ueno, Ryuichi Nishinakamura, Yasuhiko Tomino, Katsuhiko Asanuma. Re-expression of Sall1 in podocytes protects against adriamycin-induced nephrosis. Lab. Invest.. 2017.07;
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
Masayuki Nagasawa, Teppei Ohkawa, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio. A Stable Mixed Chimera After SCT with RIC in an Infant with I κ B α Hypermorphic Mutation. J. Clin. Immunol.. 2017.07; 37(5); 413-414
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
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
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);
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
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
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. 2017.07;
Nishioka M,Takahashi A,Komiya E,Yamaguchi Y,Maeda Y,Doi S. A Case of Anomalous Left Anterior Descending Coronary Artery from the Pulmonary Artery Combined with Anomalous Right Coronary Artery from the Left Coronary Sinus Pediatric Cardiology and Cardiac Surgery. 2017.07; 4(33); 341-342
Johanna Schepp, Janet Chou, Andrea Skrabl-Baumgartner, Peter D Arkwright, Karin R Engelhardt, Sophie Hambleton, Tomohiro Morio, Ekkehard Röther, Klaus Warnatz, Raif Geha, Bodo Grimbacher. 14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deﬁciency. Front Immunol. 2017.08; 8; 964
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
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, Masa-haru Akiyama, Ryoji Kobayashi, Takao Deguchi, Yoshiko Hashii, Toshihiko Imamura, Atsushi Sato, Nobu-taka 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
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 accompa-nied by congenital central hypothyroidism in Japan. Clin Pediatr Endocrinol. 2017.09; 26(4); 207-213
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
Komaki M, Numata Y, Morioka C, Honda I, Tooi M, Yokoyama N, Ayame H, Iwasaki K, Taki A, Oshima N, Morita I. Exosomes of human placenta-derived mesenchymal stem cells stimulate angiogenesis. Stem Cell Res Ther. 2017.10; 8(1); 219
Akira Endo, Miko Okamura, Shunsuke Yoshikawa, Yasuhiro Otomo, Tomohiro Morio. Multilateral Func-tional Alterations of Human Neutrophils in Sepsis: From the Point of Diagnosis to the Seventh Day. Shock. 2017.10;
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;
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;
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 virolog-ical detection system and diﬀerences in their clinical presentations. Brain Dev. 2017.10;
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. 2017.10;
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
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. 2017.11;
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;
Masatoshi Takagi, Misa Yoshida, Yoshino Nemoto, Hiroyuki Tamaichi, Rika Tsuchida, Masafumi Seki, Kumiko Uryu, Rina Nishii, Satoshi Miyamoto, Masahiro Saito, Ryoji Hanada, Hideo Kaneko, Satoru Miyano, Keisuke Kataoka, Kenichi Yoshida, 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);
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. 2017.11;
Tomoko Mizuno, Satoko Kumada, Rie Naito. Sleep-Related Laryngeal Stridor in Opsoclonus Myoclonus Syndrome. Pediatr. Neurol.. 2017.12; 77; 91
Takashi Ohya, Masakatsu Yanagimachi, Kentaro Iwasawa, Shuichiro Umetsu, Tsuyoshi Sogo, Ayano Inui, Tomoo Fujisawa, Shuichi Ito. Childhood-onset inﬂammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene. World J. Gastroenterol.. 2017.12; 23(48); 8544-8552
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 disor-ders. J. Allergy Clin. Immunol.. 2017.12;
Federica Barzaghi, Laura Cristina Amaya Hernandez, Benedicte Neven, Silvia Ricci, Zeynep Yesim Ku-cuk, Jack Bleesing, Zohreh Nademi, Mary Anne Slatter, Erlinda Rose Ulloa, Anna Shcherbina, Anna Roppelt, Austen Worth, Juliana Silva, Alessandro Aiuti, Luis Murguia-Favela, Carsten Speckmann, Magda Carneiro-Sampaio, Juliana Folloni Fernandes, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner, Ayca Kiykim, Ansgar Schulz, Sandra Steinmann, Lucia Dora Notarangelo, Eleonora Gambineri, Paolo Lionetti, William Thomas Shearer, Lisa Forbes, Caridad Martinez, Despina Moshous, Stephane Blanche, Alain Fisher, Frank M Ruemmele, Come Tissandier, M Ouachee-Chardin, Frédéric Rieux-Laucat, Ma-rina Cavazzana, Waseem Qasim, Barbarella Lucarelli, Michael H Albert, Ichiro Kobayashi, Laura Alonso, Cristina Diaz De Heredia, Hirokazu Kanegane, Anita Lawitschka, Jong Jin Seo, Marta Gonzalez-Vicent, Miguel Angel Diaz, Rakesh Kumar Goyal, Martin G Sauer, Akif Yesilipek, Minsoo Kim, Yesim Yilmaz-Demirdag, Monica Bhatia, Julie Khlevner, Erick J Richmond Padilla, Silvana Martino, Davide Montin, Olaf Neth, Agueda Molinos-Quintana, Justo Valverde-Fernandez, Arnon Broides, Vered Pinsk, Antje Ballauf, Filomeen Haerynck, Victoria Bordon, Catharina Dhooge, Maria Laura Garcia-Lloret, Robbert G Bredius, Krzysztof Kal′wak, Elie Haddad, Markus Gerhard Seidel, Gregor Duckers, Sung-Yun Pai, Christopher C Dvorak, Stephan Ehl, Franco Locatelli, Frederick Goldman, Andrew Richard Gennery, Mort J Cowan, Maria Grazia Roncarolo, Rosa Bacchetta, . Long-term follow up of IPEX syndrome pa-tients after diﬀerent therapeutic strategies: an international multicenter retrospective study. J. Allergy Clin. Immunol. 2017.12;
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. 2017.12;
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