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 )

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 )

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 )

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 )

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 )

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 )

Adela Escudero, Masatoshi Takagi, Franziska Auer, Ulrike Anne Friedrich, Satoshi Miyamoto, Atsushi Ogawa, Kohsuke Imai, Barbara Pascual, María Vela, Polina Stepensky, Layal Yasin, Sarah Elitzur, Arndt Borkhardt, Antonio Pérez-Martínez, Julia Hauer: Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants. Leukemia. 2022.09; 36 (9): 2338-2342. ( PubMed , DOI )

Qian Zhang, Daniela Matuozzo, Jérémie Le Pen, Danyel Lee, Leen Moens, Takaki Asano, Jonathan Bohlen, Zhiyong Liu, Marcela Moncada-Velez, Yasemin Kendir-Demirkol, Huie Jing, Lucy Bizien, Astrid Marchal, Hassan Abolhassani, Selket Delafontaine, Giorgia Bucciol, , Gulsum Ical Bayhan, Sevgi Keles, Ayca Kiykim, Selda Hancerli, Filomeen Haerynck, Benoit Florkin, Nevin Hatipoglu, Tayfun Ozcelik, Guillaume Morelle, Mayana Zatz, Lisa F P Ng, David Chien Lye, Barnaby Edward Young, Yee-Sin Leo, Clifton L Dalgard, Richard P Lifton, Laurent Renia, Isabelle Meyts, Emmanuelle Jouanguy, Lennart Hammarström, Qiang Pan-Hammarström, Bertrand Boisson, Paul Bastard, Helen C Su, Stéphanie Boisson-Dupuis, Laurent Abel, Charles M Rice, Shen-Ying Zhang, Aurélie Cobat, Jean-Laurent Casanova: Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. J Exp Med. 2022.08; 219 (8): ( PubMed , DOI )

Akira Nishimura, Satoshi Miyamoto, Kohsuke Imai, Tomohiro Morio: Conditioning regimens for inborn errors of immunity: current perspectives and future strategies. Int J Hematol. 2022.07; 116 (1): 7-15. ( PubMed , DOI )

Tessa Mollie Campbell, Zhiyong Liu, Qian Zhang, Marcela Moncada-Velez, Laura E Covill, Peng Zhang, Ilad Alavi Darazam, Paul Bastard, Lucy Bizien, Giorgia Bucciol, Sara Lind Enoksson, Emmanuelle Jouanguy, Şemsi Nur Karabela, Taushif Khan, Yasemin Kendir-Demirkol, Andres Augusto Arias, Davood Mansouri, Per Marits, Nico Marr, Isabelle Migeotte, Leen Moens, Tayfun Ozcelik, Isabelle Pellier, Anton Sendel, Mohammad Shahrooei, C I Edvard Smith, Isabelle Vandernoot, Karen Willekens, , Peter Bergman, Laurent Abel, Aurélie Cobat, Jean-Laurent Casanova, Isabelle Meyts, Yenan T Bryceson: Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency. J Exp Med. 2022.07; 219 (7): ( PubMed , DOI )

Eto S, Nukui Y, Tsumura M, Nakagama Y, Kashimada K, Mizoguchi Y, Utsumi T, Taniguchi M, Sakura F, Noma K, Yoshida Y, Ohshimo S, Nagashima S, Okamoto K, Endo A, Imai K, Kanegane H, Ohnishi H, Hirata S, Sugiyama E, Shime N, Ito M, Ohge H, Kido Y, Bastard P, Casanova JL, Ohara O, Tanaka J, Morio T, Okada S: Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19. Journal of clinical immunology. 2022.06; 42 (7): 1360-1370. ( PubMed , DOI )

Miyamoto S, Umeda K, Kurata M, Yanagimachi M, Iguchi A, Sasahara Y, Okada K, Koike T, Tanoshima R, Ishimura M, Yamada M, Sato M, Takahashi Y, Kajiwara M, Kawaguchi H, Inoue M, Hashii Y, Yabe H, Kato K, Atsuta Y, Imai K, Morio T.: Hematopoietic Cell Transplantation for Inborn Errors of Immunity Other than Severe Combined Immunodeficiency in Japan: Retrospective Analysis for 1985-2016 J Clin Immunol. 2022.04; 42 (3): 529-545. ( PubMed )

Shohei Eto, Yoko Nukui, Miyuki Tsumura, Yu Nakagama, Kenichi Kashimada, Yoko Mizoguchi, Takanori Utsumi, Maki Taniguchi, Fumiaki Sakura, Kosuke Noma, Yusuke Yoshida, Shinichiro Ohshimo, Shintaro Nagashima, Keisuke Okamoto, Akifumi Endo, Kohsuke Imai, Hirokazu Kanegane, Hidenori Ohnishi, Shintaro Hirata, Eiji Sugiyama, Nobuaki Shime, Masanori Ito, Hiroki Ohge, Yasutoshi Kido, Paul Bastard, Jean-Laurent Casanova, Junko Tanaka, Tomohiro Morio, Satoshi Okada: Neutralizing Type I Interferon Autoantibodies in Japanese Patients With Severe COVID-19 Res Sq. 2022.03; ( PubMed , DOI )

David Egg, Ina Caroline Rump, Noriko Mitsuiki, Jessica Rojas-Restrepo, Maria-Elena Maccari, Charlotte Schwab, Annemarie Gabrysch, Klaus Warnatz, Sigune Goldacker, Virginia Patiño, Daniel Wolff, Satoshi Okada, Seiichi Hayakawa, Yoshiaki Shikama, Kenji Kanda, Kohsuke Imai, Manabu Sotomatsu, Makoto Kuwashima, Takahiro Kamiya, Tomohiro Morio, Kazuaki Matsumoto, Takeshi Mori, Yuri Yoshimoto, Ingunn Dybedal, Maria Kanariou, Zeynep Yesim Kucuk, Hugo Chapdelaine, Lenka Petruzelkova, Hanns-Martin Lorenz, Kathleen E Sullivan, Jennifer Heimall, Michel Moutschen, Jiri Litzman, Mike Recher, Michael H Albert, Fabian Hauck, Suranjith Seneviratne, Jana Pachlopnik Schmid, Antonios Kolios, Gary Unglik, Christian Klemann, Scott Snapper, Lisa Giulino-Roth, Michael Svaton, Craig D Platt, Sophie Hambleton, Olaf Neth, Geraldine Gosse, Steffen Reinsch, Dirk Holzinger, Yae-Jean Kim, Shahrzad Bakhtiar, Faranaz Atschekzei, Reinhold Schmidt, Georgios Sogkas, Shanmuganathan Chandrakasan, William Rae, Beata Derfalvi, Hanne Vibeke Marquart, Ahmet Ozen, Ayca Kiykim, Elif Karakoc-Aydiner, Pavlína Králíčková, Godelieve de Bree, Dimitra Kiritsi, Markus G Seidel, Robin Kobbe, Jennifer Dantzer, Laia Alsina, Thais Armangue, Vassilios Lougaris, Philipp Agyeman, Sofia Nyström, David Buchbinder, Peter D Arkwright, Bodo Grimbacher: Therapeutic options for CTLA-4 Insufficiency J Allergy Clin Immunol. 2022.02; 149 (2): 736-746. ( PubMed , DOI )

Kay Tanita, Yoshiki Kawamura, Hiroki Miura, Noriko Mitsuiki, Takahiro Tomoda, Kento Inoue, Akihiro Iguchi, Masafumi Yamada, Taro Yoshida, Hideki Muramatsu, Norimasa Tada, Toshihiro Matsui, Motohiro Kato, Katsuhide Eguchi, Masataka Ishimura, Shouichi Ohga, Kohsuke Imai, Tomohiro Morio, Tetsushi Yoshikawa, Hirokazu Kanegane: Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan. Front Immunol. 2022.02; 13 786375. ( PubMed , DOI )

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 )

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 )

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 )

Isshiki K, Kamiya T, Endo A, Okamoto K, Osumi T, Kawai T, Arai K, Tomizawa D, Ohtsuka K, Nagahori M, Imai K, Kato M, Kanegane H: Vedolizumab therapy for pediatric steroid-refractory gastrointestinal acute graft-versus-host disease. Int J Hematol. 2021.11; ( PubMed , DOI )

Miwako Toyohara, Yuko Kajiho, Etsushi Toyofuku, Chie Takahashi, Keiho Owada, Shoichiro Kanda, Yutaka Harita, Hidenori Ohnishi, Taizo Wada, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Akira Oka: An infant with X-linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report Clin Case Rep. 2021.11; 9 (11): e05093. ( PubMed , DOI )

Satoshi Miyamoto, Katsutsugu Umeda, Mio Kurata, Akira Nishimura, Masakatsu Yanagimachi, Masataka Ishimura, Maho Sato, Tomonari Shigemura, Motohiro Kato, Yoji Sasahara, Akihiro Iguchi, Takashi Koike, Yoshiyuki Takahashi, Michiko Kajiwara, Masami Inoue, Yoshiko Hashii, Hiromasa Yabe, Koji Kato, Yoshiko Atsuta, Kohsuke Imai, Tomohiro Morio: Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study. J Clin Immunol. 2021.11; 41 (8): 1865-1877. ( PubMed , DOI )

Shintaro Ono, Kozue Takeshita, Yuko Kiridoshi, Motohiro Kato, Takahiro Kamiya, Akihiro Hoshino, Masakatsu Yanagimachi, Katsuhiro Arai, Ichiro Takeuchi, Nariaki Toita, Toshihiko Imamura, Yoji Sasahara, Junichi Sugita, Kazuko Hamamoto, Masanobu Takeuchi, Shoji Saito, Masaei Onuma, Hiroshi Tsujimoto, Masahiro Yasui, Takashi Taga, Yuki Arakawa, Yuichi Mitani, Nobuyuki Yamamoto, Kohsuke Imai, Wataru Suda, Masahira Hattori, Osamu Ohara, Tomohiro Morio, Kenya Honda, Hirokazu Kanegane: Hematopoietic cell transplantation rescues inflammatory bowel disease and dysbiosis of gut microbiota in XIAP deficiency. J Allergy Clin Immunol Pract. 2021.10; 9 (10): 3767-3780. ( PubMed , DOI )

Pitale PM, Saltykova IV, Adu-Agyeiwaah Y, Calzi SL, Satoh T, Akira S, Gorbatyuk O, Boulton ME, Pardue MT, Garvey WT, Athar M, Grant MB, Gorbatyuk MS: Tribbles Homolog 3 Mediates the Development and Progression of Diabetic Retinopathy. Diabetes. 2021.08; 70 (8): 1738-1753. ( PubMed , DOI )

Takaki Asano, Bertrand Boisson, Fanny Onodi, Daniela Matuozzo, Marcela Moncada-Velez, Majistor Raj Luxman Maglorius Renkilaraj, Peng Zhang, Laurent Meertens, Alexandre Bolze, Marie Materna, Sarantis Korniotis, Adrian Gervais, Estelle Talouarn, Benedetta Bigio, Yoann Seeleuthner, Kaya Bilguvar, Yu Zhang, Anna-Lena Neehus, Masato Ogishi, Simon J Pelham, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Pere Soler-Palacín, Roger Colobran, Andrea Martin-Nalda, Jacques G Rivière, Yacine Tandjaoui-Lambiotte, Khalil Chaïbi, Mohammad Shahrooei, Ilad Alavi Darazam, Nasrin Alipour Olyaei, Davood Mansouri, Nevin Hatipoğlu, Figen Palabiyik, Tayfun Ozcelik, Giuseppe Novelli, Antonio Novelli, Giorgio Casari, Alessandro Aiuti, Paola Carrera, Simone Bondesan, Federica Barzaghi, Patrizia Rovere-Querini, Cristina Tresoldi, Jose Luis Franco, Julian Rojas, Luis Felipe Reyes, Ingrid G Bustos, Andres Augusto Arias, Guillaume Morelle, Kyheng Christèle, Jesús Troya, Laura Planas-Serra, Agatha Schlüter, Marta Gut, Aurora Pujol, Luis M Allende, Carlos Rodriguez-Gallego, Carlos Flores, Oscar Cabrera-Marante, Daniel E Pleguezuelo, Rebeca Pérez de Diego, Sevgi Keles, Gokhan Aytekin, Ozge Metin Akcan, Yenan T Bryceson, Peter Bergman, Petter Brodin, Daniel Smole, C I Edvard Smith, Anna-Carin Norlin, Tessa M Campbell, Laura E Covill, Lennart Hammarström, Qiang Pan-Hammarström, Hassan Abolhassani, Shrikant Mane, Nico Marr, Manar Ata, Fatima Al Ali, Taushif Khan, András N Spaan, Clifton L Dalgard, Paolo Bonfanti, Andrea Biondi, Sarah Tubiana, Charles Burdet, Robert Nussbaum, Amanda Kahn-Kirby, Andrew L Snow, , , , , , , , , , Jacinta Bustamante, Anne Puel, Stéphanie Boisson-Dupuis, Shen-Ying Zhang, Vivien Béziat, Richard P Lifton, Paul Bastard, Luigi D Notarangelo, Laurent Abel, Helen C Su, Emmanuelle Jouanguy, Ali Amara, Vassili Soumelis, Aurélie Cobat, Qian Zhang, Jean-Laurent Casanova: X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 Sci Immunol. 2021.08; 6 (62): ( PubMed , DOI )

Akira Nishimura, Yuki Aoki, Yasuyoshi Ishiwata, Takuya Ichimura, Junichi Ueyama, Yuta Kawahara, Takahiro Tomoda, Maiko Inoue, Kazuaki Matsumoto, Kento Inoue, Haruka Hiroki, Shintaro Ono, Motoi Yamashita, Tsubasa Okano, Mari Tanaka-Kubota, Miho Ashiarai, Satoshi Miyamoto, Reiji Miyawaki, Chika Yamagishi, Mari Tezuka, Teppei Okawa, Akihiro Hoshino, Akifumi Endo, Masato Yasuhara, Takahiro Kamiya, Noriko Mitsuiki, Toshiaki Ono, Takeshi Isoda, Masakatsu Yanagimachi, Daisuke Tomizawa, Masayuki Nagasawa, Shuki Mizutani, Michiko Kajiwara, Masatoshi Takagi, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio: Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases. J Clin Immunol. 2021.07; 41 (5): 944-957. ( PubMed , DOI )

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 )

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 )

Sancho-Shimizu V, Brodin P, Cobat A, Biggs CM, Toubiana J, Lucas CL, Henrickson SE, Belot A, MIS-C@CHGE, Tangye SG, Milner JD, Levin M, Abel L, Bogunovic D, Casanova JL, Zhang SY.: SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease? J Exp Med. 2021.06; 218 (6): ( PubMed , DOI )

Shibuya Takumi, Kamiyama Asami, Sawada Hirotaka, Kikuchi Kenta, Maruyama Mayu, Sawado Rie, Ikeda Naoki, Asano Kenichi, Kurotaki Daisuke, Tamura Tomohiko, Yoneda Atsuko, Imada Keisuke, Satoh Takashi, Akira Shizuo, Tanaka Masato, Yotsumoto Satoshi: Immunoregulatory Monocyte Subset Promotes Metastasis Associated With Therapeutic Intervention for Primary Tumor FRONTIERS IN IMMUNOLOGY. 2021.06; 12 663115. ( PubMed , DOI )

Kawasaki Takahiro, Sugihara Fuminori, Fukushima Kiyoharu, Matsuki Takanori, Nabeshima Hiroshi, Machida Tomohisa, Mitsui Yuichi, Fujimura Saki, Sagawa Rio, Gaheun Lee, Kuniyoshi Kanako, Tanaka Hiroki, Narazaki Masashi, Kumanogoh Atsushi, Akira Shizuo, Satoh Takashi: Loss of FCHSD1 leads to amelioration of chronic obstructive pulmonary disease PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2021.06; 118 (26): ( PubMed , DOI )

Tamaki Kato, Yoshiteru Tamura, Hiroshi Matsumoto, Osamu Kobayashi, Hideaki Ishiguro, Masaya Ogawa, Koyo Tsujikawa, Yasuhiro Hasegawa, Mitsuhiro Sakamoto, Masaaki Konagaya, Hideki Houzen, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Akio Yokoseki, Osamu Onodera, Shigeaki Nonoyama: Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia. Clin Immunol. 2021.06; 108776. ( PubMed , DOI )

Mushino T, Hiroi T, Yamashita Y, Suzaki N, Mishima H, Ueno M, Kinoshita A, Minami K, Imai K, Yoshiura KI, Sonoki T, Tamura S.: Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura. Intern Med. 2021.06; 60 (12): 1927-1933. ( PubMed , DOI )

Morichika D, Taniguchi A, Oda N, Fujii U, Senoo S, Itano J, Kanehiro A, Kitaguchi Y, Yasuo M, Hanaoka M, Satoh T, Akira S, Kiura K, Maeda Y, Miyahara N: Loss of IL-33 enhances elastase-induced and cigarette smoke extract-induced emphysema in mice. Respiratory research. 2021.05; 22 (1): 150. ( PubMed , DOI )

Dimitrova D, Nademi Z, Maccari ME, Ehl S, Uzel G, Tomoda T, Okano T, Imai K, Carpenter B, Ip W, Rao K, Worth AJJ, Laberko A, Mukhina A, Néven B, Moshous D, Speckmann C, Warnatz K, Wehr C, Abolhassani H, Aghamohammadi A, Bleesing JJ, Dara J, Dvorak CC, Ghosh S, Kang HJ, Markelj G, Modi A, Bayer DK, Notarangelo LD, Schulz A, Garcia-Prat M, Soler-Palacín P, Karakükcü M, Yilmaz E, Gambineri E, Menconi M, Masmas TN, Holm M, Bonfim C, Prando C, Hughes S, Jolles S, Morris EC, Kapoor N, Koltan S, Paneesha S, Steward C, Wynn R, Duffner U, Gennery AR, Lankester AC, Slatter M, Kanakry JA.: International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome. J Allergy Clin Immunol. 2021.05; ( PubMed , DOI )

Tanita K, Sakura F, Nambu R, Tsumura M, Imanaka Y, Ohnishi H, Kato Z, Pan J, Hoshino A, Suzuki K, Yasutomi M, Umetsu S, Okada C, Takagi M, Imai K, Ohara O, Muise AM, Okada S, Morio T, Kanegane H.: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3 J Clin Immunol.. 2021.05; 41 (4): 780-790. ( PubMed )

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 )

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 )

Kadowaki S, Hashimoto K, Nishimura T, Kashimada K, Kadowaki T, Kawamoto N, Imai K, Okada S, Kanegane H, Ohnishi H.: Functional analysis of novel A20 variants in patients with atypical inflammatory diseases. Arthritis Res Ther. 2021.02; 23 (1): 52. ( PubMed , DOI )

Vignesh P, Rawat A, Kumrah R, Singh A, Gummadi A, Sharma M, Kaur A, Nameirakpam J, Jindal A, Suri D, Gupta A, Khadwal A, Saikia B, Minz RW, Sharma K, Desai M, Taur P, Gowri V, Pandrowala A, Dalvi A, Jodhawat N, Kambli P, Madkaikar MR, Bhattad S, Ramprakash S, Cp R, Jayaram A, Sivasankaran M, Munirathnam D, Balaji S, Rajendran A, Aggarwal A, Singh K, Na F, George B, Mehta A, Lashkari HP, Uppuluri R, Raj R, Bartakke S, Gupta K, Sreedharanunni S, Ogura Y, Kato T, Imai K, Chan KW, Leung D, Ohara O, Nonoyama S, Hershfield M, Lau YL, Singh S.: Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India. Front Immunol. 2021.02; 11 619146. ( PubMed , DOI )

Rawat A, Vignesh P, Sudhakar M, Sharma M, Suri D, Jindal A, Gupta A, Shandilya JK, Loganathan SK, Kaur G, Chawla S, Patra PK, Khadwal A, Saikia B, Minz RW, Aggarwal V, Taur P, Pandrowala A, Gowri V, Desai M, Kulkarni M, Hule G, Bargir U, Kambli P, Madkaikar M, Bhattad S, Ginigeri C, Kumar H, Jayaram A, Munirathnam D, Sivasankaran M, Raj R, Uppuluri R, Na F, George B, Lashkari HP, Kalra M, Sachdeva A, Seth S, Sabui T, Gupta A, van Leeuwen K, de Boer M, Chan KW, Imai K, Ohara O, Nonoyama S, Lau YL, Singh S.: Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India. Front Immunol. 2021.02; 12 625320. ( PubMed , DOI )

Vignesh P, Loganathan SK, Sudhakar M, Chaudhary H, Rawat A, Sharma M, Shekar A, Vaiphei K, Kumar N, Singh Sachdeva MU, Jindal AK, Suri D, Gupta A, Ray P, Imai K, Ohara O, Nonoyama S, Lau YL, Singh S.: Hemophagocytic Lymphohistiocytosis in Children with Chronic Granulomatous Disease-Single-Center Experience from North India. J Allergy Clin Immunol Pract. 2021.02; 9 (2): 771-782. ( PubMed , DOI )

Sieverding K, Ulmer J, Bruno C, Satoh T, Tsao W, Freischmidt A, Akira S, Wong PC, Ludolph AC, Danzer KM, Lobsiger CS, Brenner D, Weishaupt JH: Hemizygous deletion of Tbk1 worsens neuromuscular junction pathology in TDP-43^G298S transgenic mice. Experimental neurology. 2021.01; 335 113496. ( 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 )

Rawat A, Jindal AK, Suri D, Vignesh P, Gupta A, Saikia B, Minz RW, Banday AZ, Tyagi R, Arora K, Joshi V, Mondal S, Shandilya JK, Sharma M, Desai M, Taur P, Pandrowala A, Gowri V, Sawant-Desai S, Gupta M, Dalvi AD, Madkaikar M, Aggarwal A, Raj R, Uppuluri R, Bhattad S, Jayaram A, Lashkari HP, Rajasekhar L, Munirathnam D, Kalra M, Shukla A, Saka R, Sharma R, Garg R, Imai K, Nonoyama S, Ohara O, Lee PP, Chan KW, Lau YL, Singh S.: Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India. Front Immunol. 2021.01; 11 612323. ( PubMed , DOI )

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 )

Okamura T, Hashimoto Y, Mori J, Yamaguchi M, Majima S, Senmaru T, Ushigome E, Nakanishi N, Asano M, Yamazaki M, Takakuwa H, Satoh T, Akira S, Hamaguchi M, Fukui M: ILC2s Improve Glucose Metabolism Through the Control of Saturated Fatty Acid Absorption Within Visceral Fat. Frontiers in immunology. 2021; 12 669629. ( PubMed , DOI )

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 )

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 )

Matsuda T, Kambe N, Ueki Y, Kanazawa N, Izawa K, Honda Y, Kawakami A, Takei S, Tonomura K, Inoue M, Kobayashi H, Okafuji I, Sakurai Y, Kato N, Maruyama Y, Inoue Y, Otsubo Y, Makino T, Okada S, Kobayashi I, Yashiro M, Ito S, Fujii H, Kondo Y, Okamoto N, Ito S, Iwata N, Kaneko U, Doi M, Hosokawa J, Ohara O, Saito MK, Nishikomori R; PIDJ members in the JSIAD; PIDJ (Primary Immunodeficiency and Autoinflammatory Diseases Database Project) members in the JSIAD (Japanese Society for Immunodeficiency and Autoinflammatory Diseases): Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation Ann Rheum Dis. 2020.11; 79 (11): 1492-1499. ( PubMed , DOI )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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. ( 医中誌 )

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 )

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 )

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 )

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 )

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 )

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 )

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

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

森下あおい, 磯田健志, 山下基, 高瀬千尋, 山野春樹, 友田昴宏, 岡野翼, 神谷尚宏, 柳町昌克, 遠藤明史, 徳本淳奈, 渡邉友博 渡部誠一, 高木正稔, 金兼弘和, 今井耕輔, 森尾友宏: マルチプレックスPCRによる呼吸器病原体の観測が有用であった重症複合免疫不全症 日本小児科学会雑誌. 2021.10; 125 (10): 1458-1464.

澤田明久, 井上雅美, 野崎昌俊, 和田和子, 藤田宏, 光田信明, 今井耕輔, 位田忍 : 母体アザチオプリンによる二次性Bリンパ球減少症：新生児マススクリーニングで発見された1例 大阪母子医療センター雑誌. 2021.10; 37 (1): 45-48.

佐藤 荘: 【マクロファージ研究の新展開】病気ごとに異なるマクロファージサブタイプと非免疫系とのクロストーク 血液内科. 2021.07; 83 (1): 8-13. ( 医中誌 )

佐藤 荘: 糖尿病の病態-immunometabolism(免疫代謝学)からのアプローチ　疾患特異的マクロファージの機能的多様性　線維化に関わる免疫系-非免疫系のクロストーク 糖尿病. 2021.05; 64 (Suppl.1): S17-4. ( 医中誌 )

福島 清春, 佐藤 荘, 熊ノ郷 淳, 審良 静男: 新規線維症関連遺伝子RBM7によるnon-coding RNA分解を介する線維化制御 日本呼吸器学会誌. 2021.04; 10 (増刊): 182. ( 医中誌 )

佐藤 荘: 疾患特異的マクロファージの機能的多様性 臨床免疫・アレルギー科. 2021.03; 75 (3): 311-316. ( 医中誌 )

佐藤 荘: 【血液疾患と血球分化】疾患特異的マクロファージの機能的多様性 血液内科. 2021.01; 82 (1): 43-48. ( 医中誌 )

江口詩織, 磯田健志, 金田明也, 井上健斗, 星野顕宏, 森下あおい, 山下基, 滝島茂, 柳町昌克, 高木正稔, 金兼弘和, 今井耕輔, 森尾友宏: 原発性線毛機能不全症同胞例に対する高張食塩水吸入療法 日本小児科学会雑誌. 2021.01; 125 (1): 52-58.

金兼弘和,木村菜美子, 小林弘美, 今井耕輔: 皮下注射免疫グロブリン製剤在宅自己注射治療導入の実際 小児科. 2020.12; 61 (13): 1774-1783.

原田瑞生, 久保暢大, 高地貴行, 岩渕晴子, 今村勝, 齋藤昭彦, 梅津哉, 山中崇之, 今井耕輔, 岡田賢, 今井千速 : ランゲルハンス細胞組織球症との鑑別を要した播種性BCG感染症を合併したIFN-γR1部分欠損症 2020.11; 57 (3): 309-313.

今井耕輔: 【抗菌薬の「なぜ?」に答える】抗菌薬を開始する前に!患者さんに免疫不全はありませんか? 小児内科. 2020.10; 52 (10): 1313-1318. ( 医中誌 )

今井耕輔: 遺伝情報と遺伝カウンセリング　小児科領域別のポイント　免疫不全・自己炎症性疾患 小児内科. 2020.08; 52 (8): 1081-1086. ( 医中誌 )

大原智子, 宮井健太郎, 谷田けい, 平石知佳, 福山希央, 田村英一郎, 河合利尚, 今井耕輔, 金兼弘和, 清原鋼二: リファンピシン投与に関連してマクロファージ活性化症候群を合併した慢性肉芽腫症 日本小児科学会雑誌. 2020.05; 124 (5): 838-844.

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 )

今井耕輔: 変わりつつある免疫不全症　免疫不全症の診断　免疫不全症に対する新生児マススクリーニング 小児科診療. 2020.03; 83 (3): 321-327. ( 医中誌 )

今井耕輔: 日常診療に活かせるアレルギーの知識　獲得免疫 JOHNS. 2020.03; 36 (3): 285-288. ( 医中誌 )

伊藤 佳史, 岡本 健太郎, 荻野 恵, 友田 昴, 井上 真依子, 磯田 健志, 今井 耕輔: 原発性免疫不全症の治療経過中に腸管気腫症をきたし保存的加療で軽快した2例 日本小児外科学会雑誌. 2019.12; 55 (7): 1220. ( 医中誌 )

花井 潤師, 田中 稔泰, 山田 雅文, 今井 耕輔: 自動核酸抽出機・TREC/KREC同時測定キットによるPIDスクリーニングの基礎検討 日本マス・スクリーニング学会誌. 2019.10; 29 (2): 219. ( 医中誌 )

今井 耕輔: 新規対象疾患のパイロット研究の現状と課題　TRECとKRECを用いた重症原発性免疫不全症に対する新生児スクリーニングの実現に向けて 日本マス・スクリーニング学会誌. 2019.10; 29 (2): 152. ( 医中誌 )

金兼弘和,今井耕輔: 原発性免疫不全症候群-最近の話題5　原発性免疫不全症候群の診断と遺伝子解析ネットワーク 小児科. 2019.08; 60 (9): 1249-1256.

今井 耕輔: 原発性免疫不全症候群-最近の話題　原発性免疫不全症候群患者の移行期医療 小児科. 2019.08; 60 (9): 1273-1277. ( DOI , 医中誌 )

末永祐太,吉本優里,大熊喜彰,兼重昌夫,田中瑞恵,瓜生英子,山中純子,水上愛弓,五石圭司,佐藤典子,今井耕輔,金兼弘和,七野浩之: 血便を初発症状とし、若年性骨髄単球性白血病様所見を呈したWiskott-Aldrich 症候群 小児科. 2019.04; 60 (4): 417-421.

伊藤佳史,岡本健太郎, 水野裕貴, 荻野恵, 廣木遥, 今井耕輔, 森尾友宏: 【小児外科診療における合併症、偶発症-とっさの処置、その後の対応】中心静脈カテーテルによるフィブリンシース・血栓形成 小児外科. 2019.03; 51 (3): 225-229. ( 医中誌 )

西村聡, 星野顕宏, 松本和明, 小野真太郎, 田中真理, 石渡泰芳, 安原眞人, 足洗美穂, 満生紀子, 樋口紘平, 井上雅美, 宮村能子, 橋井佳子, 柳町昌克, 磯田健志, 梶原道子, 高木正稔, 水谷修紀, 金兼弘和, 今井耕輔, 森尾友宏: X連鎖高IgM症候群に対するフルダラビン・ブスルファンを用いた強度減弱前処置による造血細胞移植 日本造血細胞移植学会雑誌 . 2019.01; 8 (1): 43-49. ( 医中誌 )

毛利万里子,金森透,岡本圭祐,田中絵里子,今井耕輔,森尾友宏,岡本健太郎,森雅亮: MSH6遺伝子変異を伴い難治性腸管Behcet病を疑う超早期発症炎症性腸疾患(VEO-IBD)の1例 小児リウマチ. 2018.11; 9 (1): 65-69.

春谷勇平, 田村志宣, 小畑裕史, 大岩健洋, 山下友佑, 蒸野寿紀, 細井裕樹, 村田祥吾, 西川彰則, 今井耕輔, 森尾友宏, 園木孝志: 臍帯血移植が奏効した成人型分類不能型免疫不全症 臨床血液. 2018.04; 59 (3): 293-299.

金兼弘和, 今井耕輔, 森尾友宏: 重症複合免役不全症～その発見から今後の展望～ 日本臨床免役学会会誌. 2017.06; 40 (3): 145-154.

金兼 弘和, 今井 耕輔, 森尾 友宏: 重症複合免疫不全症　その発見から今後の展望 日本臨床免疫学会会誌. 2017.06; 40 (3): 145-154.

高木 正稔, 緒方 昌平, 上野 浩生, 吉田 健一, 葉 姿ぶん, 朴 今花, 星野 顕宏, 山下 基, 南谷 真衣, 岡野 翼, 村松 秀樹, 奥野 友介, 白石 友一, 千葉 健一, 田中 洋子, 坂東 由紀, 林 泰秀, 宮野 悟, 今井 耕輔, 金兼 弘和, 小川 誠司, 小島 勢二, 森尾 友宏: ALPS責任分子TNFAIP3の同定 日本小児血液・がん学会雑誌. 2017.06; 54 (2): 169. ( 医中誌 )

廣木遥, 岡野翼, 山下基, 足洗美穂, 宮本智史, 小林千佳, 青木由貴, 高木正稔, 今井耕輔, 金兼弘和, 森尾友宏: Epstein-Barrウイルス関連血球貪食性リンパ組織球症にリツキシマブが奏功したX連鎖リンパ増殖症候群1型の一例 日本小児血液・がん学会雑誌. 2017.04; 54 (1): 25-29. ( 医中誌 )

山口(藤巻)明日香, 大坂渓, 田中(久保田)真理, 宮本智史, 満生紀子, 高木正稔, 今井耕輔, 窪田満, 金兼弘和, 森尾友宏: 無形成発作を契機に診断されたグルコース-6－リン酸脱水素酵素欠損症の日本男児 日本小児科学会雑誌. 2017.04; 121 (4): 724-728.

足洗美穂, 金兼弘和, 今井耕輔, 木村菜美子, 陳菜穂, 岡野翼, 小野真太郎, 田中（久保田）真理, 宮本智史, 小林千佳, 満生紀子, 青木由貴, 田中絵里子, 高木正稔, 森尾友宏: 低または無ガンマグロブリン血症50例に対する皮下注用免疫グロブリン製剤導入. 日本小児科学会雑誌. 2016.12; 120 (12): 1772-1781. ( 医中誌 )

今井耕輔: B細胞シグナル伝達異常と原発性免疫不全症 炎症と免疫. 2016.10; 24 (6): 67-75.

岡本圭祐, 今井耕輔: 【血球の増加と減少】白血球　リンパ球減少症 小児内科. 2016.07; 48 (7): 974-978. ( 医中誌 )

木脇祐子,手束真理,小林大輔,阿部志保,森尾友宏,今井耕輔,北川昌伸: パラインフルエンザウイルス3型(PIV3)感染を契機として肺胞蛋白症を発症した完全型DiGeorge症候群の1剖検例 病理と臨床. 2016.06; 34 (6): 631-636.

金兼弘和,高島健浩,今井耕輔: 原発性免疫不全症における診断のすすめ方 モダンメディア別冊. 2016.04; 62 (4): 130-137.

平本梨花,大曽根眞也,今村俊彦,石田宏之,高島健浩,今井耕輔,森尾友宏,細井創: 臍帯血移植にて救命し得た、サイトメガトウイルス感染症合併重症複合型免疫不全症の一例 日本小児血液・がん学会雑誌. 2016.02; 52 (5): 449-453.

今井耕輔: 免疫グロブリンクラススイッチ異常症（高IgM症候群） 小児内科. 2015.11; 47 713-717.

辻田 由喜,今井耕輔,野々山 恵章: PI3K異常症および類縁疾患 小児内科. 2015.11; 47 776-778.

高島 健浩,今井耕輔,森尾友宏: DiGeorge症候群 小児内科. 2015.11; 47 702-704.

今井耕輔: 免疫グロブリンクラススイッチ症候群（高ＩｇＡ症候群 小児疾患診療のための病態生理2　改訂第5版. 2015.11; 47 (増刊): 713-717.

今井耕輔: 原発性免疫不全症　原因探索法・診断法の進歩 2015.08; 22 (9): 1196-1207.

今井耕輔: ips細胞を用いた難病研究ー臨床病態解明と創薬に向けた研究の最新知見（第4章）血液・免疫疾患　原発性免疫不全症 遺伝子医学　MOOK. 2015.02; (27): 152-157.

森尾友宏,高島健浩,今井耕輔: 多パラメータ解析による免疫担当細胞亜群同定と機能解析 医学のあゆみ. 2015.01; 252 (1): 48-54. ( 医中誌 )

今井　耕輔: 見逃しやすい免疫不全　ピンポイント小児医療　免疫系overview　免疫不全症との対応を含めて 小児内科. 2014.10; 46 (10): 1454-1458.

本間 健一,今井 耕輔, 野々山 恵章: 見逃しやすい免疫不全 ピンポイント小児医療　これからの原発性免疫不全症の新生児マススクリーニングについて 小児内科. 2014.10; 46 (10): 1535-1538.

高島 健浩. 今井 耕輔,: 見逃しやすい免疫不全 ピンポイント小児医療 ヒト免疫担当細胞サブセット解析の標準化 小児内科. 2014.10; 46 (10): 1539-1544 .

本間 健一, 今井 耕輔, 金兼 弘和, 野々山 恵章: MonoMAC症候群(GATA2異常症) 臨床免疫・アレルギー科. 2013.10; 60 (4): 439-446.

今井 耕輔: 原発性免疫不全症の最新国際分類(2011) 小児科. 2013.10; 54 (11): 1491-1515.

今井 耕輔: 原発性免疫不全症における遺伝学的検査の取り扱いと諸問題について 日本小児血液・がん学会雑誌 . 2013.10; 50 (3): 415-417.

今井 耕輔: 【子どもの免疫Update】自然免疫について チャイルド ヘルス. 2013.09; 16 (9): 608-613.

今井 耕輔: 【原発性免疫不全症の診断と治療Update】新生児スクリーニングによる原発性免疫不全症の診断 小児科臨床. 2013.06; 66 (6): 1025-1032.

今井 耕輔: 【クローズアップ　新しい子どもの病気】免疫不全　新しい診断技術　TREC、KRECによる原発性免疫不全症のスクリーニング 小児内科. 2013.06; 45 (6): 1148-1151.

高木正稔, 今井耕輔, 森尾友宏, 水谷修紀: The Research Front Line of Immune Thrombocytopenia　原発性免疫不全症候群関連の免疫性血小板減少症 臨床血液. 2013.04; 54 (4): 357-364.

Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro, Mizutani Shuki: 原発性免疫不全症候群関連の免疫性血小板減少症 臨床血液. 2013.04; 54 (4): 357-364. ( PubMed )

今井 耕輔: 【知っておきたい最新の免疫不全症分類-診断から治療まで】疫学　PIDJと原発性免疫不全症の新生児スクリーニング 小児科診療. 2013.03; 76 (3): 367-375.

今井 耕輔: 原発性免疫不全症の遺伝子診断・治療 臨床血液. 2012.10; 53 (10): 1865-1873.

今井 耕輔: 原発性免疫不全症の最新国際分類 臨床免疫・アレルギー科 . 2012.10; 58 (4): 446-466.

今井 耕輔: 【知っておきたい内科症候群】膠原病・免疫・アレルギー《免疫不全症》　ウィスコット・アルドリッチ症候群 内科. 2012.06; 109 (6): 1501-1503.

今井 耕輔: 臨床検査の意義と限界　T細胞・B細胞サブセット 小児内科. 2012.04; 44 (4): 645-648.

今井 耕輔, 中川 紀子, 森西 洋一, 野々山 恵章: 【原発性免疫不全症の新展開】原発性免疫不全症のマススクリーニング 炎症と免疫1. 2011.04; 19 (3): 203-209.

吉田 裕輔, 西山 光則, 加藤 環, 石渡 隆寛, 山田 謙太郎, 今井 耕輔, 若松 太, 川名 明彦, 野々山 恵章: 【新型インフルエンザ　重症化からの脱却】小児におけるパンデミックインフルエンザA(H1N1)2009　気道感染の特徴と人工呼吸器管理例を含む治療経験 日本胸部臨床. 2010.12; 69 (12): 1103-1117.

吉田裕輔, 西山光則, 石渡隆寛, 今井耕輔, 若松太, 川名明彦, 野々山恵章: 人工呼吸管理例を含むパンデミックインフルエンザA(H1N1)2009肺炎3例の治療経験 日本小児科学会雑誌. 2010.01; 114 (1): 85-87.

今井 耕輔: 【小児科医のための思春期医学・医療】思春期へキャリーオーバーした疾患をもつ患者への対応　先天性免疫不全症 小児科. 2009.10; 50 (11): 1899-1909.

今井 耕輔: わが国の小児科医・研究者によって新たに提唱・発見された疾患、疾患概念、原因の究明された疾患　高IgM症候群(Uracil DNA glycosylase異常による) 小児内科. 2009.06; 41 (6): 942-949.

森西 洋一, 今井 耕輔: 【免疫不全症候群と遺伝子異常】免疫不全症の臨床検査　TRECs測定による重症複合免疫不全症のマススクリーニング 臨床検査. 2009.05; 53 (5): 553-559.

今井 耕輔, スジャータ・モハン , 小原 收: 免疫不全症候群と遺伝子異常】免疫不全症候群の遺伝子診断の中央化とデータベース 臨床検査. 2009.05; 53 (5): 533-540.

富澤 大輔, 今井 耕輔 : 【免疫不全症候群と遺伝子異常】各疾患の遺伝子異常,診断と治療　伴性高IgM症候群(CD40 ligand欠損症) 臨床検査. 2009.05; 53 (5): 575-579.

本間健一, 辻陽一郎, 今井耕輔, 子川和宏, , 野々山恵章: 骨髄非破壊的前処置にて血縁者間臍帯血移植を施行し、生着が得られた重症再生不良性貧血の1例 日本小児血液学会雑誌. 2009.02; 23 (1): 43-46.

今井 耕輔: 【ここまで分かっている免疫不全症候群】PIDJ(日本原発性免疫不全症データベース)プロジェクトについて 小児科臨床. 2008.09; 61 (9): 1811-1816.

野々山 恵章, 今井 耕輔: 【原発性免疫不全症候群】原発性免疫不全症候群の病因(遺伝子異常) アレルギー・免疫. 2008.09; 15 (10): 1304-1311.

今井 耕輔: 【原発性免疫不全症候群】いわゆる高IgM症候群(クラススイッチ障害) アレルギー・免疫. 2008.09; 15 (10): 1338-1349.

今井 耕輔, 黒崎 知博, 野々山 恵章: 【分子メカニズムから解き明かす疾患のサイエンス】免疫(アレルギー)疾患　B細胞の終末分化とその障害による原発性免疫不全症 実験医学. 2006.06; 24 (10): 1515-1524.

今井 耕輔: 【先天性免疫不全症の最近の話題】高IgM症候群と免疫グロブリンクラススイッチ障害 血液フロンティア. 2006.03; 16 (4): 541-557.

今井 耕輔: 【免疫2005】獲得免疫　UNG欠損による免疫グロブリンクラススイッチ障害 Molecular Medicine. 2004.12; 41 295-304.

今井 耕輔: 【免疫不全症　そこが知りたい】高IgM血症を伴う免疫不全症 小児内科. 2004.11; 36 (11): 1755-1761.

今井 耕輔: 【新しく知られた分子異常による免疫不全症】UNG遺伝子異常による高IgM症候群5型 臨床免疫. 2004.07; 42 (1): 1-10.

今井 耕輔: 【原発性免疫不全症とゲノム】原発性免疫不全症のゲノム医学　高IgM症候群とゲノム ゲノム医学. 2003.06; 3 (3): 299-304.

小松博史, 光藤伸人, 辻井久, 垣田静代, 生田治康, 川井伸, 今井耕輔, 野々山恵章: 脊髄髄膜瘤を合併したX連鎖血小板減少症の1例 日本小児科学会雑誌. 2002.12; 106 (12): 1905-1908.

今井 耕輔: 【ここまでできるようになっている!新しい小児医療】自己免疫疾患に対する造血幹細胞移植療法の現状 小児科. 2002.10; 43 (11): 1671-1675.

石橋洋則, 下山武彦, 赤松秀樹, 砂盛誠, 大谷俊樹, 今井耕輔: 縦隔原発の巨大悪性胚細胞性腫瘍の1例 胸部外科. 2002.08; 55 (9): 815-818.

浅野貴子, 今井耕輔, 河本博, 元吉八重子, 亀井宏一, 小林克樹, 瀧本浩幸, 水沢慵一, 下田益弘, 水谷修紀: 早期の診断確定・治療開始によりRPGNを呈することなく緩解したP-ANCA陽性壊死性半月体形成性腎炎の1例 日本小児腎不全学会雑誌. 2001.08; 21 152-155.

板倉敬乃, 小川雄之亮, 今井耕輔, 野々山恵章: サイトメガロウイルス感染症を伴ったX連鎖血小板減少症の1例 小児感染免疫. 2000.12; 12 (4): 389-392.

今井 耕輔: WASPの異常と免疫不全症 免疫Immunology Frontier. 2000.10; 10 (5): 335-341.

瀧本浩幸, 今井耕輔, 浅野貴子, 亀井宏一, 小林克樹, 水沢慵一, 下田益弘, 竹田篤, 大川洋二, 矢田純一, 新村文男: 重症全身性エリテマトーデスに対する自己末梢血幹細胞移植時に急性腎不全を合併した1例 日本小児腎不全学会雑誌. 2000.08; 20 187-190.

今井 耕輔: 【期待される開発途上の診断法・治療法】自己免疫疾患に対する造血幹細胞移植療法 小児科. 1999.09; 40 (10): 1327-1331.

今井 耕輔: 【先天性免疫不全症の分子機構】WASP(Wiskott-Aldrich syndrome protein)の分子機構 医学のあゆみ. 1997.09; 182 (10): 731-735.

今井耕輔, 山本 貴子, 伊東 祐之, 吉田 邦枝, 前田 浩利, 梶原 道子, 高木 秀二, 大川 洋二, 平井 莞二, 矢田 純一: 骨髄移植後にEpstein-Barr virusに関連したlymphoproliferative disorderを発症したWiskott-Aldrich症候群の1例 日本小児血液学会雑誌. 1996.06; 10 (3): 210-215.

Kracker S, Imai K, Gardes P, Ochs HD, Fischer A, Durandy A: Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair Proc Natl Acad Sci U S A. 2010.12; 107 (51): 22225-22230. ( PubMed , DOI )

Morinishi Y, Imai K, Nakagawa N, Sato H, Horiuchi K, Ohtsuka Y, Kaneda Y, Taga T, Hisakawa H, Miyaji R, Endo M, Oh-Ishi T, Kamachi Y, Akahane K, Kobayashi C, Tsuchida M, Morio T, Sasahara Y, Kumaki S, Ishigaki K, Yoshida M, Urabe T, Kobayashi N, Okimoto Y, Reichenbach J, Hashii Y, Tsuji Y, Kogawa K, Yamaguchi S, Kanegane H, Miyawaki T, Yamada M, Ariga T, Nonoyama S: Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards J Pediatr. 2009.12; 155 (6): 829.

Imai K, Shimadzu M, Kubota T, Morio T, Matsunaga T, Park YD, Yoshioka A, Nonoyama S.: Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG Biochim Biophys Acta. 2006.03; 1762 (3): 335-340.

Imai K, Zhu Y, Revy P, Morio T, Mizutani S, Fischer A, Nonoyama S, Durandy A: Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2 Clin Immunol. 2005.06; 115 (3): 277-285.

Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, Yata J, Mizutani S, Ochs HD, Nonoyama S: Clinical course of patients with WASP gene mutations Blood. 2004.01; 103 (2): 456-464.

Imai K, Nonoyama S, Ochs HD.: WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype Curr Opin Allergy Clin Immunol.. 2003.12; 3 (6): 427-436.

Imai K, Slupphaug G, Lee WI, Revy P, Nonoyama S, Catalan N, Yel L, Forveille M, Kavli B, Krokan HE, Ochs HD, Fischer A, Durandy A. : Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination Nature Immunology. 2003.10; 4 (10): 1023-1028. ( PubMed , DOI )

Imai K, Catalan N, Plebani A, Marodi L, Sanal O, Kumaki S, Nagendran V, Wood P, Glastre C, Sarrot-Reynauld F, Hermine O, Forveille M, Revy P, Fischer A, Durandy A.: Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination J Clin Invest. 2003.07; 112 (1): 136-42.

Nadia Catalan, Kohsuke Imai, Patrick Revy, Alain Fischer, Anne Durandy: [Two years after, activation-induced cytidine deaminase has not revealed all of its secrets]. Med Sci (Paris). 2003.02; 19 (2): 139-141. ( PubMed , DOI )

Imai K, Nonoyama S, Miki H, Morio T, Fukami K, Zhu Q, Aruffo A, Ochs HD, Yata J, Takenawa T.: The pleckstrin homology domain of the Wiskott-Aldrich syndrome protein is involved in the organization of actin cytoskeleton. Clin Immunol. 1999.08; 92 (2): 128-137.