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Shuya Kaneko, Yusuke Noguchi, Maho Hatano, Asami Shimbo, Hitoshi Irabu, Kenji Furuno, Naomi Iwata, Junya Fujimura, Keiji Akamine, Anna Kobayashi, Takuya Endo, Tomohiro Morio, Masaki Shimizu: Clinical usefulness of T-Cell Receptor Vβ Repertoire analysis for differentiating multisystem inflammatory syndrome in Japanese children from Toxic Shock Syndrome and Kawasaki Disease. Pediatr Infect Dis J. 2023.12; ( PubMed , DOI )

Kunihiko Moriya, Kanako Mitsui-Sekinaka, Yujin Sekinaka, Akifumi Endo, Hirokazu Kanegane, Tomohiro Morio, Kohsuke Imai, Shigeaki Nonoyama: Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan. Immunol Med. 2023.12; 46 (4): 153-157. ( PubMed , DOI )

Takuro Nishikawa, Takahiro Tomoda, Aki Nakamura, Jun Nagahama, Akihito Tanaka, Shuji Kanmura, Mari Kirishima, Akihide Tanimoto, Tsubasa Okano, Takahiro Kamiya, Kentaro Okamoto, Susumu Kirimura, Tomohiro Morio, Yasuhiro Okamoto, Hirokazu Kanegane: Case Report: The leopard sign as a potential characteristic of chronic granulomatous disease-associated colitis, unrelated to colitis severity. Front Immunol. 2023.12; 14 1208590. ( PubMed , DOI )

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

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

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

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

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

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

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

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

Toshihiro Yamaguchi, Masao Iwagami, Chieko Ishiguro, Souichirou Kitao, Masashi Tetsuhashi, Masato Izumi, Shingo Yoshihara, Hiroshi Kobatake, Yoshifumi Banzai, Natsumi Kinoshita, Toyotaka Iguchi, Akira Oka, Tomohiro Morio, Kiyohito Nakai, Shuichiro Hayashi, Ryo Takagi: Updated report of COVID-19 vaccine safety monitoring in Japan: booster doses for Omicron variants and vaccinations for infants and young children. Lancet Reg Health West Pac. 2023.09; 38 100885. ( PubMed , DOI )

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

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 )

Shuya Kaneko, Masaki Shimizu, Asami Shimbo, Hitoshi Irabu, Koji Yokoyama, Kenji Furuno, Takayuki Tanaka, Kazuyuki Ueno, Shuhei Fujita, Naomi Iwata, Junya Fujimura, Keiji Akamine, Mao Mizuta, Yasuo Nakagishi, Toshinori Minato, Kenichi Watanabe, Anna Kobayashi, Takuya Endo, Katsuhiko Tabata, Masaaki Mori, Tomohiro Morio: Clinical significance of serum cytokine profiles for differentiating between Kawasaki disease and its mimickers. Cytokine. 2023.06; 169 156280. ( PubMed , DOI )

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

Takahiro Kido, Sho Hosaka, Kazuo Imagawa, Hiroko Fukushima, Tomohiro Morio, Shigeaki Nonoyama, Hidetoshi Takada: Initial manifestations in Patients with Inborn Errors of Immunity Based on Onset Age: a Study from a Nationwide Survey in Japan. J Clin Immunol. 2023.05; 43 (4): 747-755. ( PubMed , DOI )

Yohei Yamaguchi, Susumu Hosokawa, Go Haraguchi, Yusuke Kajikawa, Makito Sakurai, Taku Ishii, Noboru Ando, Tomohiro Morio, Shozaburo Doi, Tetsushi Furukawa: The Anti-Inflammatory Effects and Clinical Potential of Dexmedetomidine in Pulmonary Arterial Hypertension. J Pharmacol Exp Ther. 2023.05; 385 (2): 88-94. ( PubMed , DOI )

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Motoi Yamashita, Tomohiro Morio: AIOLOS Variants Causing Immunodeficiency in Human and Mice Front Immunol. 2022.04; 13 866582. ( PubMed , DOI )

Yusuke Noguchi, Atsuko Taki, Izumi Honda, Manabu Sugie, Tsunanori Shidei, Kazuyuki Ito, Haruka Iwata, Akira Koyama, Kaoru Okazaki, Masatoshi Kondo, Chikako Morioka, Kenichi Kashimada, Tomohiro Morio: Transcriptome analysis of umbilical cord mesenchymal stem cells revealed fetal programming due to chorioamnionitis Sci Rep. 2022.04; 12 (1): 6537. ( PubMed , DOI )

Yuki Ichimura, Risa Konishi, Miwako Shobo, Sae Inoue, Mari Okune, Akemi Maeda, Ryota Tanaka, Noriko Kubota, Isao Matsumoto, Akiko Ishii, Akira Tamaoka, Asami Shimbo, Masaaki Mori, Tomohiro Morio, Takayuki Kishi, Takako Miyamae, Jantima Tanboon, Michio Inoue, Ichizo Nishino, Manabu Fujimoto, Toshifumi Nomura, Naoko Okiyama: Reliability of antinuclear matrix protein 2 antibody assays in idiopathic inflammatory myopathies is dependent on target protein properties J Dermatol. 2022.04; 49 (4): 441-447. ( 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 )

Yuki Ichimura, Risa Konishi, Miwako Shobo, Sae Inoue, Mari Okune, Akemi Maeda, Ryota Tanaka, Noriko Kubota, Isao Matsumoto, Akiko Ishii, Akira Tamaoka, Asami Shimbo, Masaaki Mori, Tomohiro Morio, Takayuki Kishi, Takako Miyamae, Jantima Tanboon, Michio Inoue, Ichizo Nishino, Manabu Fujimoto, Toshifumi Nomura, Naoko Okiyama: Anti-nuclear matrix protein 2 antibody-positive inflammatory myopathies represent extensive myositis without dermatomyositis-specific rash. Rheumatology (Oxford). 2022.03; 61 (3): 1222-1227. ( PubMed , DOI )

Jérémy Manry, Paul Bastard, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Shohei Eto, Marina Garcia-Prat, Lucy Bizien, Alba Parra-Martínez, Rui Yang, Liis Haljasmägi, Mélanie Migaud, Karita Särekannu, Julia Maslovskaja, Nicolas de Prost, Yacine Tandjaoui-Lambiotte, Charles-Edouard Luyt, Blanca Amador-Borrero, Alexandre Gaudet, Julien Poissy, Pascal Morel, Pascale Richard, Fabrice Cognasse, Jesús Troya, Sophie Trouillet-Assant, Alexandre Belot, Kahina Saker, Pierre Garçon, Jacques G Rivière, Jean-Christophe Lagier, Stéphanie Gentile, Lindsey B Rosen, Elana Shaw, Tomohiro Morio, et al.: The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies. Proc Natl Acad Sci U S A. 2022.03; 119 (21): e2200413119. ( PubMed , DOI )

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 )

Qian Zhang, Paul Bastard, Aurélie Cobat, Jean-Laurent Casanova: Human genetic and immunological determinants of critical COVID-19 pneumonia. Nature. 2022.03; 603 (7902): 587-598. ( PubMed , DOI )

Dan Tomomasa, Claire Booth, Jack J Bleesing, Takeshi Isoda, Chie Kobayashi, Kazutoshi Koike, Takeshi Taketani, Akihisa Sawada, Akihiro Tamura, Rebecca A Marsh, Tomohiro Morio, Andrew R Gennery, Hirokazu Kanegane: Preemptive hematopoietic cell transplantation for asymptomatic patients with X-linked lymphoproliferative syndrome type 1 Clin Immunol. 2022.03; 237 108993. ( 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 )

Dan Tomomasa, Kay Tanita, Seishi Higashi, Yuri Tasaka, Takashi Shimamura, Urara Sakurai, Tomoyo Matsubara, Satoshi Okada, Tomohiro Morio, Hirokazu Kanegane: Early diagnosis of partial interferon-γ receptor 1 deficiency prevents the development of Bacille de Calmette et Guérin osteomyelitis Clin Immunol. 2022.02; 235 108933. ( PubMed , DOI )

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

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

Yamaguchi Y, Takasawa K, Irabu H, Hiratoko K, Ichigi Y, Hirata K, Tamura Y, Murakoshi M, Yamashita M, Nakatani H, Shimoda M, Ishii T, Udagawa T, Shimizu M, Kanegane H, Morio T: Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child. Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy. 2022.01; ( PubMed , DOI )

Dan Tomomasa, Takeshi Sato, Tomonobu Hasegawa, Tomohiro Morio, Hirokazu Kanegane: Cartilage-hair hypoplasia with T-cell dysfunction. Pediatr Int. 2022.01; 64 (1): e15080. ( PubMed , DOI )

Sho Hosaka, Takahiro Kido, Kazuo Imagawa, Hiroko Fukushima, Tomohiro Morio, Shigeaki Nonoyama, Hidetoshi Takada: Vaccination for Patients with Inborn Errors of Immunity: a Nationwide Survey in Japan J Clin Immunol. 2022.01; 43 (1): 183-194. ( PubMed , DOI )

Etsushi Toyofuku, Kozue Takeshita, Hidenori Ohnishi, Yuko Kiridoshi, Hiroaki Masuoka, Tomonori Kadowaki, Ryuta Nishikomori, Kenichi Nishimura, Chie Kobayashi, Takasuke Ebato, Tomonari Shigemura, Yuzaburo Inoue, Wataru Suda, Masahira Hattori, Tomohiro Morio, Kenya Honda, Hirokazu Kanegane: Dysregulation of the Intestinal Microbiome in Patients With Haploinsufficiency of A20. Front Cell Infect Microbiol. 2022.01; 11 787667. ( 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 )

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

Ishii T, Nawa N, Morio T, Fujiwara T: Association between nationwide introduction of public-access defibrillation and sudden cardiac death in Japan: An interrupted time-series analysis. International journal of cardiology. 2021.12; ( 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 )

Hye Sun Kuehn, Jingjie Chang, Motoi Yamashita, Julie E Niemela, Chengcheng Zou, Kazuki Okuyama, Junji Harada, Jennifer L Stoddard, Cristiane J Nunes-Santos, Brigette Boast, Ryan M Baxter, Elena W Y Hsieh, Mary Garofalo, Thomas A Fleisher, Tomohiro Morio, Ichiro Taniuchi, Cullen M Dutmer, Sergio D Rosenzweig: T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients. J Exp Med. 2021.12; 218 (12): ( 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 )

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 )

Kei Takasawa, Hirokazu Kanegane, Kenichi Kashimada, Tomohiro Morio: Endocrinopathies in Inborn Errors of Immunity Front Immunol. 2021.11; 12 786241. ( PubMed , DOI )

Mitsuru Mizuno, Kentaro Endo, Hisako Katano, Naoki Amano, Masaki Nomura, Yoshinori Hasegawa, Nobutake Ozeki, Hideyuki Koga, Naoko Takasu, Osamu Ohara, Tomohiro Morio, Ichiro Sekiya: Transplantation of human autologous synovial mesenchymal stem cells with trisomy 7 into the knee joint and 5 years of follow-up. Stem Cells Transl Med. 2021.11; 10 (11): 1530-1543. ( 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 )

Motoi Yamashita, Tomohiro Morio: Another Exciting Data-HCT Successfully Cured Patients with DADA2 : A commentary on "Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients" by Hashem H et al. J Clin Immunol. 2021.10; 41 (7): 1443-1445. ( PubMed , DOI )

Yuko Ishii, Aiko Sato-Otsubo, Junko Takita, Tomohiro Morio, Masatoshi Takagi: Copy number alteration analysis for neuroblastoma using droplet digital polymerase chain reaction. Pediatr Int. 2021.10; 63 (10): 1192-1197. ( PubMed , DOI )

Keisuke Okamoto, Tomohiro Morio: Inborn errors of immunity with eosinophilia. Allergol Int. 2021.10; 70 (4): 415-420. ( PubMed , DOI )

Koji Kato, Hiromasa Yabe, Nobuyuki Shimozawa, Souichi Adachi, Mineo Kurokawa, Yoshiko Hashii, Atsushi Sato, Nao Yoshida, Makiko Kaga, Osamu Onodera, Shunichi Kato, Yoshiko Atsuta, Tomohiro Morio: Stem cell transplantation for pediatric patients with adrenoleukodystrophy: A nationwide retrospective analysis in Japan. Pediatr Transplant. 2021.10; e14125. ( PubMed , DOI )

Yoko Saito, Kei Takasawa, Maki Gau, Takeru Yamauchi, Ryuichi Nakagawa, Yuichi Miyakawa, Akito Sutani, Atsumi Hosokawa-Tsuji, Shigeru Takishima, Yohei Matsubara, Tomohiro Morio, Kenichi Kashimada: Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency. Clin Pediatr Endocrinol. 2021.10; 30 (4): 155-161. ( PubMed , DOI )

M H D Schoenaker, Sanami Takada, M van Deuren, C J Dommering, S S V Henriët, I Pico, W V Vogel, C M R Weemaes, M A A P Willemsen, M van der Burg, J H A M Kaanders: Considerations for radiotherapy in Bloom Syndrome: A case series. 2021.10; 64 (10): 104293. ( PubMed , DOI )

Masakatsu Yanagimachi, Sayaka Fukuda, Fumiko Tanaka, Mari Iwamoto, Chiho Takao, Kunihiro Oba, Natsuko Suzuki, Koji Kiyohara, Dai Kuranobu, Norimasa Tada, Ayako Nagashima, Taku Ishii, Yoko Ino, Yayoi Kimura, Nobutoshi Nawa, Takeo Fujiwara, Takuya Naruto, Tomohiro Morio, Shouzaburo Doi, Masaaki Mori: Leucine-rich alpha-2-glycoprotein 1 and angiotensinogen as diagnostic biomarkers for Kawasaki disease. PLoS One. 2021.09; 16 (9): e0257138. ( PubMed , DOI )

Hiroshi Nihira, Kazushi Izawa, Moeko Ito, Hiroaki Umebayashi, Tsubasa Okano, Shunsuke Kajikawa, Etsuro Nanishi, Dai Keino, Kosaku Murakami, Masahiko Isa-Nishitani, Takeshi Shiba, Yoshitaka Honda, Atsushi Hijikata, Tadateru Yasu, Tomohiro Kubota, Yoshinori Hasegawa, Yusuke Kawashima, Naoko Nakano, Hidetoshi Takada, Shouichi Ohga, Toshio Heike, Junko Takita, Osamu Ohara, Syuji Takei, Makio Takahashi, Hirokazu Kanegane, Tomohiro Morio, Sachiko Iwaki-Egawa, Yoji Sasahara, Ryuta Nishikomori, Takahiro Yasumi: Detailed Analysis of Japanese Patients with Adenosine Deaminase 2 Deficiency Reveals Characteristic Elevation of Type II Interferon Signature and STAT1 Hyperactivation. J Allergy Clin Immunol. 2021.08; 148 (2): 550-562. ( PubMed , DOI )

Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau YL, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari NS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Ostrowski SR, Condino-Neto A, Prando C, Bonradenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S; HGID Lab; COVID Clinicians; COVID-STORM Clinicians; NIAID Immune Response to COVID Group; NH-COVAIR Study Group; Danish CHGE; Danish Blood Donor Study; St. James's Hospital; SARS CoV2 Interest group; French COVID Cohort Study Group; Imagine COVID-Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19; Biobank Investigators; COVID Human Genetic Effort; CONSTANCES cohort; 3C-Dijon Study; Cerba Health-Care; Etablissement du Sang study group, Anderson MS, Boisson B, Béziat V, Zhang SY, Vandreakos E, Hermine O, Pujol A, Peterson P, Mogensen TH, Rowen L, Mond J, Debette S, de Lamballerie X, Duval X, Mentré F, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Cobat A, Abel L, Casanova JL.: Autoantibodies neutralizing type I IFNs are present in ~ 4% of uninfected individuals over 70 years old and account for ~ 20% of COVID-19 deaths. Sci Immunol. 2021.08; 6 (62): ( 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, Tomohiro Morio: Inborn errors of IKAROS and AIOLOS Curr Opin Immunol. 2021.07; 72 239-248. ( 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 )

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

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 )

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Tomonori Suzuki, Kuniko Kohyama, Kengo Moriyama, Mariko Ozaki, Setsuko Hasegawa, Taro Ueno, Minoru Saitoe, Tomohiro Morio, Masaharu Hayashi, Hiroshi Sakuma: Extracellular ADP augments microglial inflammasome and NF-κB activation via the P2Y12 receptor. Eur. J. Immunol. 2020.02; 50 (2): 205-219. ( PubMed , DOI )

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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 )

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

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 )

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

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 )

Takashi Okumura, Yumi Horie, Chen-Yi Lai, Huan-Ting Lin, Hirofumi Shoda, Bunki Natsumoto, Keishi Fujio, Eri Kumaki, Tsubasa Okano, Shintaro Ono, Kay Tanita, Tomohiro Morio, Hirokazu Kanegane, Hisanori Hasegawa, Fumitaka Mizoguchi, Kimito Kawahata, Hitoshi Kohsaka, Hiroshi Moritake, Hiroyuki Nunoi, Hironori Waki, Shin-Ichi Tamaru, Takayoshi Sasako, Toshimasa Yamauchi, Takashi Kadowaki, Hiroyuki Tanaka, Sachiko Kitanaka, Ken Nishimura, Manami Ohtaka, Mahito Nakanishi, Makoto Otsu: Robust and highly efficient hiPSC generation from patient non-mobilized peripheral blood-derived CD34+ cells using the auto-erasable Sendai virus vector. Stem Cell Res Ther. 2019.06; 10 (1): 185. ( 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 )

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

Zeinab A El-Sayed, Irina Abramova, Juan Carlos Aldave, Waleed Al-Herz, Liliana Bezrodnik, Rachida Boukari, Ahmed Aziz Bousfiha, Caterina Cancrini, Antonio Condino-Neto, Ghassan Dbaibo, Beata Derfalvi, Figen Dogu, J David M Edgar, Brian Eley, Rasha Hasan El-Owaidy, Sara Elva Espinosa-Padilla, Nermeen Galal, Filomeen Haerynck, Rima Hanna-Wakim, Elham Hossny, Aydan Ikinciogullari, Ebtihal Kamal, Hirokazu Kanegane, Nadia Kechout, Yu Lung Lau, Tomohiro Morio, Viviana Moschese, Joao Farela Neves, Monia Ouederni, Roberto Paganelli, Kenneth Paris, Claudio Pignata, Alessandro Plebani, Farah Naz Qamar, Sonia Qureshi, Nita Radhakrishnan, Nima Rezaei, Nelson Rosario, John Routes, Berta Sanchez, Anna Sediva, Mikko Rj Seppanen, Edith Gonzalez Serrano, Anna Shcherbina, Surjit Singh, Sangeetha Siniah, Guiseppe Spadaro, Mimi Tang, Ana Maria Vinet, Alla Volokha, Kathleen E Sullivan: X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world. World Allergy Organ J. 2019.03; 12 (3): 100018. ( 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 )

S Virachith, M Saito, Y Watanabe, K Inoue, O Hoshi, T Kubota: Anti-β#D2#DR -glycoprotein I antibody with DNA binding activity enters living monocytes via cell surface DNA and induces tissue factor expression. Clin. Exp. Immunol.. 2019.02; 195 (2): 167-178. ( PubMed , DOI )

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

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

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

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

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

Keiichi Iwanami, Tsubasa Okano, Osamu Ohara, Tomohiro Morio: Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema. Intern Med. 2019.01; 58 (2): 213-216. ( PubMed , DOI )

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

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

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

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

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 )

Chelisa Cardinez, Bahar Miraghazadeh, Kay Tanita, Elizabeth da Silva, Akihiro Hoshino, Satoshi Okada, Rochna Chand, Takaki Asano, Miyuki Tsumura, Kenichi Yoshida, Hidenori Ohnishi, Zenichiro Kato, Masahide Yamazaki, Yusuke Okuno, Satoru Miyano, Seiji Kojima, Seishi Ogawa, T Daniel Andrews, Matthew A Field, Gaetan Burgio, Tomohiro Morio, Carola G Vinuesa, Hirokazu Kanegane, Matthew C Cook: Gain-of-function IKBKB mutation causes human combined immune deficiency. J. Exp. Med.. 2018.10; 215 (11): 2715-2724. ( PubMed , DOI )

Akihiro Hoshino, Xi Yang, Kay Tanita, Kenichi Yoshida, Toshiaki Ono, Naonori Nishida, Yusuke Okuno, Takeyuki Kanzaki, Kumiko Goi, Hisanori Fujino, Koichi Ohshima, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Tomohiro Morio, Hirokazu Kanegane: Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1. J. Allergy Clin. Immunol.. 2018.10; 413 (1): 421-424. ( PubMed , DOI )

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

Nishiyama-Fujita Y, Kawana-Tachikawa AI, Ono T, Tanaka Y, Kato T, Heslop HE, Morio T, Takahashi S: Generation of multivirus-specific T cells by a single stimulation of peripheral blood mononuclear cells with a peptide mixture using serum-free medium. Tanaka Y. 2018.08; 20 (9): 1182-1190. ( 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 )

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

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 )

Yoshinori Kawabe, Takahiro Morio, Yoshimasa Tanaka, Pauline Schaap: Glycogen synthase kinase 3 promotes multicellular development over unicellular encystation in encysting Dictyostelia. Evodevo. 2018.05; 9 12. ( PubMed , DOI )

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

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

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 )

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

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 )

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

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

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

Daniel Petersheim, Michel J Massaad, Saetbyul Lee, Alessia Scarselli, Caterina Cancrini, Kunihiko Moriya, Yoji Sasahara, Arjan C Lankester, Morna Dorsey, Daniela Di Giovanni, Liliana Bezrodnik, Hidenori Ohnishi, Ryuta Nishikomori, Kay Tanita, Hirokazu Kanegane, Tomohiro Morio, Erwin W Gelfand, Ashish Jain, Elizabeth Secord, Capucine Picard, Jean-Laurent Casanova, Michael H Albert, Troy R Torgerson, Raif S Geha: Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. J. Allergy Clin. Immunol.. 2018.03; 141 (3): 1060-1073.e3. ( 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 )

Toshiaki Ono, Yuriko Fujita, Tetsuro Matano, Satoshi Takahashi, Tomohiro Morio, Ai Kawana-Tachikawa: Characterization of in vitro expanded virus-specific T cells toward adoptive immunotherapy against virus infection Jpn. J. Infect. Dis.. 2018.02; 71 (2): 122-128. ( PubMed , DOI )

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

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

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

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

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

Toshihiro Matsui, Takumi Matsumoto, Fumio Hirano, Fumika Tokunaga, Keisuke Okamoto, Shigeto Tohma, Tomohiro Morio, Hitoshi Kohsaka, Masaaki Mori: Survey of the awareness of adult rheumatologists regarding transitional care for patients with juvenile idiopathic arthritis in Japan Mod Rheumatol. 2018.01; 28 (6): 981-985. ( 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 )

Sanami Takada, Naotomo Kambe, Yuri Kawasaki, Akira Niwa, Fumiko Honda-Ozaki, Kazuki Kobayashi, Mitsujiro Osawa, Ayako Nagahashi, Katsunori Semi, Akitsu Hotta, Isao Asaka, Yasuhiro Yamada, Ryuta Nishikomori, Toshio Heike, Hiroyuki Matsue, Tatsutoshi Nakahata, Megumu K. Saito: Pluripotent stem cell models of Blau syndrome reveal an IFN-γ–dependent inflammatory response in macrophages Journal of Allergy and Clinical Immunology. 2018.01; 141 (1): 339-349.e11. ( DOI )

Kazuo Takayama, Naoki Akita, Natsumi Mimura, Rina Akahira, Yukimasa Taniguchi, Makoto Ikeda, Fuminori Sakurai, Osamu Ohara, Tomohiro Morio, Kiyotoshi Sekiguchi, Hiroyuki Mizuguchi: Generation of safe and therapeutically effective human induced pluripotent stem cell-derived hepatocyte-like cells for regenerative medicine Hepatol Commun. 2017.12; 1 (10): 1058-1069. ( PubMed , DOI )

Atsumi Tsuji-Hosokawa, Kei Takasawa, Risa Nomura, Yuichi Miyakawa, Chikahiko Numakura, Atsushi Hijikata, Tsuyoshi Shirai, Yoshihiro Ogawa, Kenichi Kashimada, Tomohiro Morio: Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases. Pediatr Diabetes. 2017.12; ( PubMed , DOI )

Aziz Bousfiha, Leïla Jeddane, Capucine Picard, Fatima Ailal, H Bobby Gaspar, Waleed Al-Herz, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L K Tang, Stuart G Tangye, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan: The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J. Clin. Immunol. 2017.12; 38 (1): 129-143. ( PubMed , DOI )

Capucine Picard, H Bobby Gaspar, Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L K Tang, Stuart G Tangye, Troy R Torgerson, Kathleen E Sullivan: International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J. Clin. Immunol. 2017.12; 38 (1): 96-128. ( 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 )

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

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.

Risa Nomura, Kentaro Miyai, Gen Nishimura, Kenichi Kashimada, Tomohiro Morio: Myhre syndrome: Age-dependent progressive phenotype Pediatr Int. 2017.11; 59 (11): 1205-1206. ( PubMed , DOI )

Tomohiro Morio: Recent advances in the study of immunodeficiency and DNA damage response. Int. J. Hematol. 2017.10; 106 (3): 357-365. ( PubMed , DOI )

Akira Endo, Miko Okamura, Shunsuke Yoshikawa, Yasuhiro Otomo, Tomohiro Morio: Multilateral Functional Alterations of Human Neutrophils in Sepsis: From the Point of Diagnosis to the Seventh Day. Shock. 2017.10; 48 (6): 629-637. ( PubMed , DOI )

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

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

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 )

Johanna Schepp, Janet Chou, Andrea Skrabl-Baumgartner, Peter D Arkwright, Karin R Engelhardt, Sophie Hambleton, Tomohiro Morio, Ekkehard Röther, Klaus Warnatz, Raif Geha, Bodo Grimbacher: 14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency. Front Immunol. 2017.08; 8 964. ( PubMed , DOI )

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

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

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

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 )

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 )

Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh: Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep. 2017.06; 7 (1): 3552. ( PubMed , DOI )

Nienke J H van Os, Anne F M Jansen, Marcel van Deuren, Asgeir Haraldsson, Nieke T M van Driel, Amos Etzioni, Michiel van der Flier, Charlotte A Haaxma, Tomohiro Morio, Amit Rawat, Michiel H D Schoenaker, Annarosa Soresina, Alexander M R Taylor, Bart P C van de Warrenburg, Corry M R Weemaes, Nel Roeleveld, Michèl A A P Willemsen: Ataxia-telangiectasia: Immunodeficiency and survival. Clin. Immunol.. 2017.05; 178 45-55. ( PubMed , DOI )

Haruna Yokoyama, Shimpei Baba, Jun Oyama, Kengo Moriyama, Tomohiro Morio: Early hypoperfusion on arterial spin labeling may be a diagnostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion. Brain Dev.. 2017.05; 39 (8): 722. ( 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 )

Shimpei Baba, Yuji Sugawara, Kengo Moriyama, Motoki Inaji, Taketoshi Maehara, Toshiyuki Yamamoto, Tomohiro Morio: Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation. Brain Dev. 2017.04; 39 (4): 341-344. ( PubMed , DOI )

Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Kenji Kurosawa, Kenichi Kashimada, Tomohiro Morio: A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty. Horm Res Paediatr. 2017.01; 87 (4): 217-216. ( PubMed , DOI )

Chikako Morioka, Motohiro Komaki, Atsuko Taki, Izumi Honda, Naoki Yokoyama, Kengo Iwasaki, Sachiko Iseki, Tomohiro Morio, Ikuo Morita: Neuroprotective effects of human umbilical cord-derived mesenchymal stem cells on periventricular leukomalacia-like brain injury in neonatal rats. Inflamm Regen. 2017.01; 37 1. ( 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 )

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

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

Katsutsugu Umeda, Souichi Adachi, Shiro Tanaka, Mizuka Miki, Keiko Okada, Yoshiko Hashii, Masami Inoue, Yuko Cho, Katsuyoshi Koh, Hiroaki Goto, Ryosuke Kajiwara, Nobuyuki Hyakuna, Koji Kato, Tomohiro Morio, Hiromasa Yabe, : Comparison of second transplantation and donor lymphocyte infusion for donor mixed chimerism after allogeneic stem cell transplantation for nonmalignant diseases. Pediatr Blood Cancer. 2016.12; 63 (12): 2221-2229. ( PubMed , DOI )

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

Shumpei Yokota, Yasuhiko Itoh, Tomohiro Morio, Hideki Origasa, Naokata Sumitomo, Minako Tomobe, Kunihiko Tanaka, Seiji Minota: Tocilizumab in systemic juvenile idiopathic arthritis in a real-world clinical setting: results from 1 year of postmarketing surveillance follow-up of 417 patients in Japan. Ann. Rheum. Dis.. 2016.10; 75 (9): 1654-1660. ( 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 )

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

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

Yumiko Nakano, Takeshi Hayashi, Kentaro Deguchi, Kota Sato, Nozomi Hishikawa, Toru Yamashita, Yasuyuki Ohta, Yoshiki Takao, Tomohiro Morio, Koji Abe: Two young stroke patients associated with regular intravenous immunoglobulin (IVIg) therapy. J. Neurol. Sci.. 2016.02; 361 9-12. ( PubMed , DOI )

T Muto, Y Takeda, S Tsukamoto, S Sakai, N Mimura, C Ohwada, M Takeuchi, E Sakaida, S Ota, T Iseki, N Shimizu, T Morio, C Nakaseko: Successful treatment of cytomegalovirus enteritis after unrelated allogeneic stem cell transplantation by the infusion of ex vivo-expanded CD4(+) lymphocytes derived from the recipient's peripheral blood donor cells. Transpl Infect Dis. 2016.02; 18 (1): 93-97. ( 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 )

A Arai, C Sakashita, C Hirose, K-I Imadome, M Yamamoto, M Jinta, S Fujiwara, M Tomita, N Shimizu, T Morio, O Miura: Hematopoietic stem cell transplantation for adults with EBV-positive T- or NK-cell lymphoproliferative disorders: efficacy and predictive markers. Bone Marrow Transplant.. 2016.02; 51 (6): 879-882. ( PubMed , DOI )

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

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

Laura Gámez-Díaz, Dietrich August, Polina Stepensky, Shoshana Revel-Vilk, Markus G Seidel, Mitsuiki Noriko, Tomohiro Morio, Austen J J Worth, Jacob Blessing, Frank Van de Veerdonk, Tobias Feuchtinger, Maria Kanariou, Annette Schmitt-Graeff, Sophie Jung, Suranjith Seneviratne, Siobhan Burns, Bernd H Belohradsky, Nima Rezaei, Shahrzad Bakhtiar, Carsten Speckmann, Michael Jordan, Bodo Grimbacher: The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J. Allergy Clin. Immunol.. 2016.01; 137 (1): 223-230. ( 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 )

Kotaro Kai, Maki Sumida, Yaeko Motoyoshi, Yuichi Ogawa, Katsuyuki Miki, Kazuhiro Iwadoh, Akihito Sannomiya, Toru Murakami, Ichiro Koyama, Kumiko Kitajima, Ichiro Nakajima, Tomohiro Morio, Shohei Fuchinoue: Successful Long-term Graft Survival of a Renal Transplantation Patient with Wiskott-Aldrich Syndrome. Intern. Med.. 2016; 55 (13): 1761-1763. ( 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 )

Tomohiro Kohmoto, Atsumi Tsuji, Kei-Ichi Morita, Takuya Naruto, Kiyoshi Masuda, Kenichi Kashimada, Keisuke Enomoto, Tomohiro Morio, Hiroyuki Harada, Issei Imoto: A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. Hum Genome Var. 2016; 3 16003. ( PubMed , DOI )

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

Atsumi Tsuji, Kaoru Konishi, Satomi Hasegawa, Akira Anazawa, Toshikazu Onishi, Makoto Ono, Tomohiro Morio, Teruo Kitagawa, Kenichi Kashimada: Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study. BMC Pediatr. 2015.12; 15 (1): 209. ( PubMed , DOI )

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

Keisuke Nakajima, Shinobu Hirai, Tomohiro Morio, Haruo Okado: Benzodiazepines induce sequelae in immature mice with inflammation-induced status epilepticus. Epilepsy Behav. 2015.10; 52 (Pt A): 180-186. ( 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 )

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

Yohei Matsubara, Tomoko Kato, Kenichi Kashimada, Hiromitsu Tanaka, Zhou Zhi, Shizuko Ichinose, Shuki Mizutani, Tomohiro Morio, Tomoki Chiba, Yoshiaki Ito, Yumiko Saga, Shuji Takada, Hirhoshi Asahara: TALEN-mediated gene disruption on Y Chromosome reveals Critical Role of EIF2S3Y in Mouse Spermatogenesis. Stem Cells Dev.. 2015.05; 24 (10): 1164-1170. ( PubMed , DOI )

Tomoya Muto, Chikako Ohwada, Atsuko Yamazaki, Yasumasa Sugita, Shokichi Tsukamoto, Shio Sakai, Yusuke Takeda, Naoya Mimura, Masahiro Takeuchi, Emiko Sakaida, Tohru Iseki, Norio Shimizu, Tomohiro Morio, Chiaki Nakaseko: Long-term complete remission by infusion of ex vivo-expanded donor-derived CD4(+) lymphocytes for treating an early relapse of Hodgkin lymphoma after cord blood transplantation. Leuk. Lymphoma. 2015.05; 1-11. ( PubMed , DOI )

Go Matsuda, Ken-Ichi Imadome, Fuyuko Kawano, Masashi Mochizuki, Nakaba Ochiai, Tomohiro Morio, Norio Shimizu, Shigeyoshi Fujiwara: Cellular immunotherapy with ex vivo expanded cord blood T cells in a humanized mouse model of EBV-associated lymphoproliferative disease. Immunotherapy. 2015.04; 7 (4): 335-341. ( PubMed , DOI )

Shumpei Yokota, Yasuhiko Itoh, Tomohiro Morio, Naokata Sumitomo, Kaori Daimaru, Seiji Minota: Macrophage Activation Syndrome in Patients with Systemic Juvenile Idiopathic Arthritis under Treatment with Tocilizumab. J. Rheumatol.. 2015.04; 42 (4): 712-722. ( 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 )

Tomohito Takimoto, Hidetoshi Takada, Masataka Ishimura, Makiko Kirino, Kenichiro Hata, Osamu Ohara, Tomohiro Morio, Toshiro Hara: Wiskott-Aldrich Syndrome in a Girl Caused by Heterozygous WASP Mutation and Extremely Skewed X-Chromosome Inactivation: A Novel Association with Maternal Uniparental Isodisomy 6. Neonatology. 2015; 107 (3): 185-190. ( PubMed , DOI )

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

Masaaki Mori, Masafumi Onodera, Akira Morimoto, Yoshiyuki Kosaka, Tomohiro Morio, Gerard F Notario, Shringi Sharma, Tsutomu Saji: Palivizumab use in Japanese infants and children with immunocompromised conditions. Pediatr. Infect. Dis. J.. 2014.11; 33 (11): 1183-1185. ( PubMed , DOI )

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

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 )

Masaaki Mori, Tomohiro Morio, Shuichi Ito, Akira Morimoto, Setsuo Ota, Koichi Mizuta, Tsutomu Iwata, Toshiro Hara, Tsutomu Saji: Risks and prevention of severe RS virus infection among children with immunodeficiency and Down's syndrome. J. Infect. Chemother.. 2014.08; 20 (8): 455-459. ( 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 )

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

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

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

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

Beatriz E Marciano, Chiung-Yu Huang, Gyan Joshi, Nima Rezaei, Beatriz Costa Carvalho, Zoe Allwood, Aydan Ikinciogullari, Shereen M Reda, Andrew Gennery, Vojtech Thon, Francisco Espinosa-Rosales, Waleed Al-Herz, Oscar Porras, Anna Shcherbina, Anna Szaflarska, Şebnem Kiliç, Jose L Franco, Andrea C Gómez Raccio, Persio Roxo, Isabel Esteves, Nermeen Galal, Anete Sevciovic Grumach, Salem Al-Tamemi, Alisan Yildiran, Julio C Orellana, Masafumi Yamada, Tomohiro Morio, Diana Liberatore, Yoshitoshi Ohtsuka, Yu-Lung Lau, Ryuta Nishikomori, Carlos Torres-Lozano, Juliana T L Mazzucchelli, Maria M S Vilela, Fabiola S Tavares, Luciana Cunha, Jorge A Pinto, Sara E Espinosa-Padilla, Leticia Hernandez-Nieto, Reem A Elfeky, Tadashi Ariga, Heike Toshio, Figen Dogu, Funda Cipe, Renata Formankova, M Enriqueta Nuñez-Nuñez, Liliana Bezrodnik, Jose Gonçalo Marques, María I Pereira, Viviana Listello, Mary A Slatter, Zohreh Nademi, Danuta Kowalczyk, Thomas A Fleisher, Graham Davies, Bénédicte Neven, Sergio D Rosenzweig: BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies. J. Allergy Clin. Immunol.. 2014.04; 133 (4): 1134-1141. ( PubMed , DOI )

Shigeyoshi Fujiwara, Hiroshi Kimura, Ken-ichi Imadome, Ayako Arai, Eiichi Kodama, Tomohiro Morio, Norio Shimizu, Hiroshi Wakiguchi: Current research on chronic active Epstein-Barr virus infection in Japan. Pediatr Int. 2014.04; 56 (2): 159-166. ( 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 )

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 )

Yohei Matsubara, Tomoki Chiba, Kenichi Kashimada, Tomohiro Morio, Shuji Takada, Shuki Mizutani, Hiroshi Asahara: Transcription activator-like effector nuclease-mediated transduction of exogenous gene into IL2RG locus. Sci Rep. 2014; 4 5043. ( PubMed , DOI )

Sanami Takada, Yaei Togawa, Seiichiro Wakabayashi, Naotomo Kambe, Hiroyuki Matsue: Dermoscopic findings in eruptive vellus hair cysts: A case report Austin Journal of Dermatology. 2014; (1): 2.

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

Satoru Kumaki, Yoji Sasahara, Yoshiro Kamachi, Hideki Muramatsu, Tomohiro Morio, Kumiko Goi, Kanji Sugita, Tomonari Urabe, Hidetoshi Takada, Seiji Kojima, Shigeru Tsuchiya, Toshirou Hara: B-cell function after unrelated umbilical cord blood transplantation using a minimal-intensity conditioning regimen in patients with X-SCID. Int. J. Hematol.. 2013.09; 98 (3): 355-360. ( PubMed , DOI )

Sunao Sugita, Manabu Ogawa, Norio Shimizu, Tomohiro Morio, Nobuyuki Ohguro, Kei Nakai, Kazuichi Maruyama, Kenji Nagata, Atsunobu Takeda, Yoshihiko Usui, Koh-Hei Sonoda, Masaru Takeuchi, Manabu Mochizuki: Use of a comprehensive polymerase chain reaction system for diagnosis of ocular infectious diseases. Ophthalmology. 2013.09; 120 (9): 1761-1768. ( PubMed , DOI )

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

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

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 )

Taizo Wada, Masahiro Muraoka, Tomoko Toma, Tsuyoshi Imai, Tomonari Shigemura, Kazunaga Agematsu, Kohei Haraguchi, Hiroyuki Moriuchi, Tsutomu Oh-Ishi, Toshiyuki Kitoh, Osamu Ohara, Tomohiro Morio, Akihiro Yachie: Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease. J. Clin. Immunol.. 2013.05; 33 (4): 857-864. ( PubMed , DOI )

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

Tae-Yoon Park, Seung-Hyung Kim, Yoon-Chul Shin, Nae-Hyun Lee, Rae-Kyung Christina Lee, Jae-Hyuck Shim, Laurie H Glimcher, Inhee Mook-Jung, Eunji Cheong, Won-Ki Kim, Fumiko Honda, Tomohiro Morio, Jong-Soon Lim, Sang-Kyou Lee: Amelioration of neurodegenerative diseases by cell death-induced cytoplasmic delivery of humanin. J Control Release. 2013.03; 166 (3): 307-315. ( PubMed , DOI )

Chie Miyabe, Yoshishige Miyabe, Noriko N Miura, Kei Takahashi, Yuya Terashima, Etsuko Toda, Fumiko Honda, Tomohiro Morio, Naoko Yamagata, Naohito Ohno, Koichi Shudo, Jun-ichi Suzuki, Mitsuaki Isobe, Kouji Matsushima, Ryoji Tsuboi, Nobuyuki Miyasaka, Toshihiro Nanki: Am80, a retinoic acid receptor agonist, ameliorates murine vasculitis through the suppression of neutrophil migration and activation. Arthritis Rheum.. 2013.02; 65 (2): 503-512. ( PubMed , DOI )

Masaki Shimizu, Hirokazu Kanegane, Taizo Wada, Yaeko Motoyoshi, Tomohiro Morio, Fabio Candotti, Akihiro Yachie: Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. J. Allergy Clin. Immunol.. 2013.02; 131 (2): 587-90.e1. ( PubMed , DOI )

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 )

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

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

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 )

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Yoichiro Tsuji, Sukeyuki Ito, Takeshi Isoda, Michiko Kajiwara, Masayuki Nagasawa, Tomohiro Morio, Shuki Mizutani: Successful nonmyeloablative cord blood transplantation for an infant with malignant infantile osteopetrosis. J. Pediatr. Hematol. Oncol.. 2005.09; 27 (9): 495-498. ( PubMed )

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

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

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

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

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

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

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

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 )

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

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

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

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

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

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

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

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

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

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

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

Jae-Hyuck Shim, Heung-Kyu Lee, Eun-Ju Chang, Wook-Jin Chae, Jin-Hwan Han, Duck-Jong Han, Tomohiro Morio, Jung-Jin Yang, Alfred Bothwell, Sang-Kyou Lee: Immunosuppressive effects of tautomycetin in vivo and in vitro via T cell-specific apoptosis induction. Proc. Natl. Acad. Sci. U.S.A.. 2002.08; 99 (16): 10617-10622. ( PubMed , DOI )

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 )

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 )

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 )

T Morio, S H Hanissian, L B Bacharier, H Teraoka, S Nonoyama, M Seki, J Kondo, H Nakano, S K Lee, R S Geha, J Yata: Ku in the cytoplasm associates with CD40 in human B cells and translocates into the nucleus following incubation with IL-4 and anti-CD40 mAb. Immunity. 1999.09; 11 (3): 339-348. ( PubMed )

K Imai, S Nonoyama, H Miki, T Morio, K Fukami, Q Zhu, A Aruffo, H D Ochs, J Yata, T Takenawa: 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. ( PubMed , DOI )

S Nonoyama, S Tsukada, T Yamadori, T Miyawaki, Y Z Jin, C Watanabe, T Morio, J Yata, H D Ochs: Functional analysis of peripheral blood B cells in patients with X-linked agammaglobulinemia. J. Immunol.. 1998.10; 161 (8): 3925-3929. ( PubMed )

T Morio, T Chatila, R S Geha: HIV glycoprotein gp120 inhibits TCR-CD3-mediated activation of fyn and lck. Int. Immunol.. 1997.01; 9 (1): 53-64. ( PubMed )

K Kawabata, M Nagasawa, T Morio, H Okawa, J Yata: Decreased alpha/beta heterodimer among CD8 molecules of peripheral blood T cells in Wiskott-Aldrich syndrome. Clin. Immunol. Immunopathol.. 1996.11; 81 (2): 129-135. ( PubMed )

T Morio, S Hanissian, R S Geha: Characterization of a 23-kDa protein associated with CD40. Proc. Natl. Acad. Sci. U.S.A.. 1995.12; 92 (25): 11633-11636. ( PubMed )

T Kondoh, K Hayashi, T Matsumoto, M Yoshimoto, T Morio, J Yata, Y Tsuji: Two sisters with clinical diagnosis of Wiskott-Aldrich syndrome: is the condition in the family autosomal recessive? Am. J. Med. Genet.. 1995.10; 60 (5): 364-369. ( PubMed , DOI )

N Ramesh, T Morio, R Fuleihan, M Worm, A Horner, E Tsitsikov, E Castigli, R S Geha: CD40-CD40 ligand (CD40L) interactions and X-linked hyperIgM syndrome (HIGMX-1). Clin. Immunol. Immunopathol.. 1995.09; 76 (3 Pt 2): S208-S213. ( PubMed )

Y Mizuno, T Morio, T Hara: Peripheral expansion of V delta 1-J delta 1/J delta 2+ gamma delta T cells and large granular lymphocytes in a patient with Wiskott-Aldrich syndrome. Acta Paediatr Jpn. 1995.06; 37 (3): 394-398. ( PubMed )

M Nagasawa, T Morio, S Takagi, J Yata: Differences of LAK-activity and IL-2 responsiveness between alpha/beta and gamma/delta T cells which developed after thymus transplantation. Acta Paediatr Jpn. 1994.08; 36 (4): 396-403. ( PubMed )

T Morio, R S Geha, T A Chatila: Engagement of MHC class II molecules by staphylococcal superantigens activates src-type protein tyrosine kinases. Eur. J. Immunol.. 1994.03; 24 (3): 651-658. ( PubMed , DOI )

N S Trede, T Morio, P R Scholl, R S Geha, T Chatila: Early activation events induced by the staphylococcal superantigen toxic shock syndrome toxin-1 in human peripheral blood monocytes. Clin. Immunol. Immunopathol.. 1994.02; 70 (2): 137-144. ( PubMed )

C L Ren, T Morio, S M Fu, R S Geha: Signal transduction via CD40 involves activation of lyn kinase and phosphatidylinositol-3-kinase, and phosphorylation of phospholipase Cγ2. J. Exp. Med.. 1994.02; 179 (2): 673-680. ( PubMed )

H Hamaguchi, Y Nakamura, K Nagata, S Shiba, H Arimura, K Muroga, S Miyake, Y Ohkawa, T Morio: Philadelphia-chromosome-positive, monosomy 7 biphenotypic acute mixed lineage leukemia in adults: a pluripotent stem cell disorder. Leukemia. 1993.11; 7 (11): 1752-1758. ( PubMed )

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T Chatila, P Scholl, N Ramesh, N Trede, R Fuleihan, T Morio, R S Geha: Cellular and molecular mechanisms of immune activation by microbial superantigens: studies using toxic shock syndrome toxin-1. Chem. Immunol.. 1992; 55 146-171. ( PubMed )

Suzuki T, Bessho M, Hirashima K, Tohda S, Nagata K, Morio T, Imai Y, Nara N: Enhancement by transforming growth factor-beta 1 (TGF-beta 1) of the proliferation of leukemic blast progenitors stimulated with IL-3. J Cell Physiol. 1991.09; 148 (3): 396-403. ( PubMed , DOI )

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

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