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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 )

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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 )

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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 )

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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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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.

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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