Yuri Hayashida, Maho Hatano, Kazuyuki Ito, Manabu Sugie, Junko Kunieda, Masaki Shimizu, Tomohiro Morio, Chikako Morioka. Case Report: A neonatal case of cryopyrin-associated periodic syndrome with severe funisitis and neonatal asphyxia. Front Pediatr. 2024.05; 12 1397412. ( PubMed, DOI )

Ishii T, Nawa N, Hosokawa S, Morio T, Fujiwara T. Exploring viral infections' role in Kawasaki disease onset: A study during the COVID-19 pandemic. Journal of medical virology. 2024.05; 96 (5): e29660. ( PubMed, DOI )

Dan Tomomasa, Beom Hee Lee, Yuki Hirata, Yuzaburo Inoue, Hidetaka Majima, Yusuke Imanaka, Takaki Asano, Takashi Katakami, Jina Lee, Atsushi Hijikata, Wittawin Worakitchanon, Xi Yang, Xiaowen Wang, Akira Watanabe, Katsuhiko Kamei, Yasufumi Kageyama, Go Hun Seo, Akihiro Fujimoto, Jean-Laurent Casanova, Anne Puel, Tomohiro Morio, Satoshi Okada, Hirokazu Kanegane. Inherited CARD9 Deficiency Due to a Founder Effect in East Asia. J Clin Immunol. 2024.05; 44 (5): 121. ( PubMed, DOI )

Dan Tomomasa, Kay Tanita, Yuriko Hiruma, Akihiro Hoshino, Ko Kudo, Shohei Azumi, Mitsutaka Shiota, Masayoshi Yamaoka, Katsuhide Eguchi, Masataka Ishimura, Yuka Tanaka, Keiji Iwatsuki, Keisuke Okuno, Asahito Hama, Ken-Ichi Sakamoto, Takashi Taga, Kimitoshi Goto, Haruka Ota, Akihiro Ichiki, Kaori Kanda, Takako Miyamura, Saori Endo, Hidenori Ohnishi, Yoji Sasahara, Ayako Arai, Benjamin Fornier, Ken-Ichi Imadome, Tomohiro Morio, Sylvain Latour, Hirokazu Kanegane. Highly sensitive detection of Epstein-Barr virus-infected cells by EBER flow FISH. Int J Hematol. 2024.05; ( PubMed, DOI )

Naotaka Tamai, Masayoshi Shinjoh, Hiroyuki Oikawa, Riku Hamada, Tomohiro Morio, Goro Koinuma, Takao Takahashi. serotype 24B in an immunocompetent child. Radiol Case Rep. 2024.04; 19 (4): 1642-1645. ( PubMed, DOI )

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

Motoi Yamashita, Takahiro Tomoda, Ami Mizuo, Takeshi Isoda, Makiko Egawa, Masayuki Yoshida, Tsutomu Toki, Ko Kudo, Kiminori Terui, Etsuro Ito, Tomohiro Morio, Masatoshi Takagi. Transient erythroblastopenia due to a GATA1 variant in an infant female. Pediatr Blood Cancer. 2024.03; 71 (3): e30834. ( PubMed, DOI )

Marie Materna, Ottavia M Delmonte, Marita Bosticardo, Mana Momenilandi, Peyton E Conrey, Bénédicte Charmeteau-De Muylder, Clotilde Bravetti, Rebecca Bellworthy, Axel Cederholm, Frederik Staels, Christian A Ganoza, Samuel Darko, Samir Sayed, Corentin Le Floc'h, Masato Ogishi, Darawan Rinchai, Andrea Guenoun, Alexandre Bolze, Taushif Khan, Adrian Gervais, Renate Krüger, Mirjam Völler, Boaz Palterer, Mahnaz Sadeghi-Shabestari, Anne Langlois de Septenville, Chaim A Schramm, Sanjana Shah, John J Tello-Cajiao, Francesca Pala, Kayla Amini, Jose S Campos, Noemia Santana Lima, Daniel Eriksson, Romain Lévy, Yoann Seeleuthner, Soma Jyonouchi, Manar Ata, Fatima Al Ali, Caroline Deswarte, Anaïs Pereira, Jérôme Mégret, Tom Le Voyer, Paul Bastard, Laureline Berteloot, Michaël Dussiot, Natasha Vladikine, Paula P Cardenas, Emmanuelle Jouanguy, Mashael Alqahtani, Amal Hasan, Thangavel Alphonse Thanaraj, Jérémie Rosain, Fahd Al Qureshah, Vito Sabato, Marie Alexandra Alyanakian, Marianne Leruez-Ville, Flore Rozenberg, Elie Haddad, Jose R Regueiro, Maria L Toribio, Judith R Kelsen, Mansoor Salehi, Shahram Nasiri, Mehdi Torabizadeh, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Nasimeh Vatandoost, Hossein Moravej, Seyed Mohammad Akrami, Mohsen Mazloomrezaei, Aurélie Cobat, Isabelle Meyts, Etsushi Toyofuku, Madoka Nishimura, Kunihiko Moriya, Tomoyuki Mizukami, Kohsuke Imai, Laurent Abel, Bernard Malissen, Fahd Al-Mulla, Fowzan Sami Alkuraya, Nima Parvaneh, Horst von Bernuth, Christian Beetz, Frédéric Davi, Daniel C Douek, Rémi Cheynier, David Langlais, Nils Landegren, Nico Marr, Tomohiro Morio, Mohammad Shahrooei, Rik Schrijvers, Sarah E Henrickson, Hervé Luche, Luigi D Notarangelo, Jean-Laurent Casanova, Vivien Béziat. The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants. Science. 2024.03; 383 (6686): eadh4059. ( PubMed, DOI )

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

Paul Bastard, Adrian Gervais, Maki Taniguchi, Liisa Saare, Karita Särekannu, Tom Le Voyer, Quentin Philippot, Jérémie Rosain, Lucy Bizien, Takaki Asano, Marina Garcia-Prat, Alba Parra-Martínez, Mélanie Migaud, Miyuki Tsumura, Francesca Conti, Alexandre Belot, Jacques G Rivière, Tomohiro Morio, Junko Tanaka, Etienne Javouhey, Filomeen Haerynck, Sotirija Duvlis, Tayfun Ozcelik, Sevgi Keles, Yacine Tandjaoui-Lambiotte, Simon Escoda, Maya Husain, Qiang Pan-Hammarström, Lennart Hammarström, Gloria Ahlijah, Anthony Abi Haidar, Camille Soudee, Vincent Arseguel, Hassan Abolhassani, Sabina Sahanic, Ivan Tancevski, Yoko Nukui, Seiichi Hayakawa, George P Chrousos, Athanasios Michos, Elizabeth-Barbara Tatsi, Filippos Filippatos, Agusti Rodriguez-Palmero, Jesus Troya, Imran Tipu, Isabelle Meyts, Lucie Roussel, Sisse Rye Ostrowski, Laire Schidlowski, Carolina Prando, Antonio Condino-Neto, Nathalie Cheikh, Ahmed A Bousfiha, Jalila El Bakkouri, , , , Pärt Peterson, Aurora Pujol, Romain Lévy, Pierre Quartier, Donald C Vinh, Bertrand Boisson, Vivien Béziat, Shen-Ying Zhang, Alessandro Borghesi, Andrea Pession, Evangelos Andreakos, Nico Marr, Alexios-Fotios A Mentis, Trine H Mogensen, Carlos Rodríguez-Gallego, Pere Soler-Palacin, Roger Colobran, Vallo Tillmann, Bénédicte Neven, Sophie Trouillet-Assant, Petter Brodin, Laurent Abel, Emmanuelle Jouanguy, Qian Zhang, Federico Martinón-Torres, Antonio Salas, Alberto Gómez-Carballa, Luis I Gonzalez-Granado, Kai Kisand, Satoshi Okada, Anne Puel, Aurélie Cobat, Jean-Laurent Casanova. Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children. J Exp Med. 2024.02; 221 (2): e20231353. ( PubMed, DOI )

Öner Özdemir, Ümmügülsüm Dikici, Murat Hakkı Yarar, Motoi Yamashita, Tomohiro Morio. A Rare AIOLOS N160S Variant Causing IEI in Human. J Clin Immunol. 2024.02; 44 (2): 57. ( PubMed, DOI )

Risa Konishi, Yuki Ichimura, Ryota Tanaka, Hanako Miyahara, Mari Okune, Masahide Miyamoto, Monami Hara, Atsushi Iwabuchi, Hidetoshi Takada, Yasuo Nakagishi, Mao Mizuta, Shuya Kaneko, Masaki Shimizu, Tomohiro Morio, Ichizo Nishino, Toshifumi Nomura, Naoko Okiyama. Possible correlation between serum interleukin-8 levels and the activity of myositis in anti-NXP2 antibody-positive dermatomyositis. Immunol Med. 2024.01; 1-6. ( PubMed, DOI )

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T Bryceson, Ingrid G Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E Covill, Ottavia M Delmonte, Loubna El Zein, Carlos Flores, Peter K Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M Alsohime, Hagit Baris-Feldman, Manish J Butte, Stefan N Constantinescu, Megan A Cooper, Clifton L Dalgard, Jacques Fellay, James R Heath, Yu-Lung Lau, Richard P Lifton, Tom Maniatis, Trine H Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, , , , , , , , , Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D Notarangelo, Stephanie Boisson-Dupuis, Helen C Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat. Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome Med. 2024.01; 16 (1): 6. ( PubMed, DOI )

Satoshi Miyamoto, Kevin Y Urayama, Yuki Arakawa, Katsuyoshi Koh, Yuki Yuza, Daisuke Hasegawa, Yuichi Taneyama, Yasushi Noguchi, Masakatsu Yanagimachi, Takeshi Inukai, Setsuo Ota, Hiroyuki Takahashi, Dai Keino, Daisuke Toyama, Junko Takita, Daisuke Tomizawa, Tomohiro Morio, Kazutoshi Koike, Koichi Moriwaki, Yuya Sato, Junya Fujimura, Daisuke Morita, Yujin Sekinaka, Kozue Nakamura, Kazuo Sakashita, Hiroaki Goto, Atsushi Manabe, Masatoshi Takagi. variants associated with pediatric B cell acute lymphoblastic leukemia. Pediatr Hematol Oncol. 2024; 41 (1): 81-87. ( PubMed, DOI )

Kazuaki Matsumoto, Kazuki Okuyama, Tom Sidwell, Motoi Yamashita, Takaho Endo, Naoko Satoh-Takayama, Hiroshi Ohno, Tomohiro Morio, Ellen V Rothenberg, Ichiro Taniuchi. A Bcl11b N797K variant isolated from an immunodeficient patient inhibits early thymocyte development in mice. Front Immunol. 2024; 15 1363704. ( PubMed, DOI )

Kei Takasawa, Ryosei Iemura, Ryuta Orimoto, Haruki Yamano, Shizuka Kirino, Eriko Adachi, Yoko Saito, Kurara Yamamoto, Nozomi Matsuda, Shigeru Takishima, Kumi Shuno, Hanako Tajima, Manabu Sugie, Yuki Mizuno, Akito Sutani, Kentaro Okamoto, Michiya Masue, Tomohiro Morio, Kenichi Kashimada. Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience. Clin Pediatr Endocrinol. 2024; 33 (3): 187-194. ( 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 )

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 )

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

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 )

Yohei Nishiyama, Kazuyoshi Mizuki, Akihiro Hoshino, Shinsuke Hirabayashi, Tatsuya Magara, Miho Ashiarai, Satoshi Miyamoto, Rintaro Ono, Shuhei Takahashi, Yosuke Hosoya, Daiki Niizato, Hiroki Yoshihara, Akira Nishimura, Noriko Mitsuiki, Takahiro Kamiya, Kei Takasawa, Michiko Kajiwara, Hirokazu Kanegane, Tomohiro Morio, Atsushi Manabe, Takeshi Isoda, Daisuke Hasegawa, Masatoshi Takagi. Hematopoietic cell transplantation for hematological malignancies in Bloom syndrome. Pediatr Blood Cancer. 2023.11; 70 (11): e30655. ( PubMed, DOI )

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

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 )

Analia Yogi, Ryosei Iemura, Hisae Nakatani, Kei Takasawa, Maki Gau, Takeru Yamauchi, Masayuki Yoshida, Keiji Moriyama, Taku Ishii, Susumu Hosokawa, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Kenichi Kashimada, Tomohiro Morio. BMP2 is a potential causative gene for isolated dextrocardia situs solitus. Eur J Med Genet. 2023.09; 66 (9): 104820. ( 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 )

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 )

Masafumi Onodera, Toru Uchiyama, Tadashi Ariga, Masafumi Yamada, Takako Miyamura, Hironori Arizono, Tomohiro Morio. Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open-label, single-arm, phase 3, and postmarketing clinical study. Immun Inflamm Dis. 2023.07; 11 (7): e917. ( PubMed, DOI )

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 )

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 )

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 )

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

Motoi Yamashita, Tomohiro Morio. Germline STAT6 gain-of-function variants cause severe allergy. J Allergy Clin Immunol. 2023.05; 151 (5): 1252-1254. ( PubMed, DOI )

Ana García-García, Rebeca Pérez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, José M Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M Marco, Claudio Pignata, Aziz Bousfiha, Stuart E Turvey, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendinez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Claudia Fortuny, Swetha Madhavarapu, Daniel H Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro, , , Isabelle Meyts, Fabian Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean-Laurent Casanova, Laia Alsina, Carlos Rodríguez-Gallego. Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia. J Exp Med. 2023.05; 220 (5): e20220170. ( PubMed, DOI )

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Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T Bryceson, Ingrid G Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E Covill, Ottavia M Delmonte, Loubna El Zein, Carlos Flores, Peter K Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M Alsohime, Hagit Baris-Feldman, Manish J Butte, Stefan N Constantinescu, Megan A Cooper, Clifton L Dalgard, Jacques Fellay, James R Heath, Yu-Lung Lau, Richard P Lifton, Tom Maniatis, Trine H Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, , , , , , , , , , Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D Notarangelo, Stephanie Boisson-Dupuis, Helen C Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 Genome Med. 2023.04; 15 (1): 22. ( 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. 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 )

Taku Ishii, Nobutoshi Nawa, Tomohiro Morio, Takeo Fujiwara. Association between nationwide introduction of public-access defibrillation and sudden cardiac death in Japan: An interrupted time-series analysis. Int J Cardiol. 2022.03; 351 100-106. ( 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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

Yukie Tanaka, Tomoo Sato, Naoko Yagishita, Junji Yamauchi, Natsumi Araya, Satoko Aratani, Katsunori Takahashi, Yasuo Kunitomo, Misako Nagasaka, Yoshinobu Kanda, Kaoru Uchimaru, Tomohiro Morio, Yoshihisa Yamano. Potential role of HTLV-1 Tax-specific cytotoxic t lymphocytes expressing a unique t-cell receptor to promote inflammation of the central nervous system in myelopathy associated with HTLV-1. Front Immunol. 2022; 13 993025. ( 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 )

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). 2021.12; 61 (1): e1-e3. ( 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 )

Dan Tomomasa, Takeshi Isoda, Noriko Mitsuiki, Motoi Yamashita, Aoi Morishita, Takahiro Tomoda, Tsubasa Okano, Akifumi Endo, Takahiro Kamiya, Masakatsu Yanagimachi, Kohsuke Imai, Hirokazu Kanegane, Masatoshi Takagi, Tomohiro Morio. 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 )

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 )

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

Ishii Y, Sato-Otsubo A, Takita J, Morio T, Takagi M. Copy Number Alteration Analysis for Neuroblastoma using Droplet Digital polymerase chain reaction Pediatrics international : official journal of the Japan Pediatric Society. 2021.10; 63 (10): 1192-1197. ( 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 )

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 )

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 )

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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 )

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 )

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 )

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 )

Motoi Yamashita, Tomohiro Morio. Inborn errors of IKAROS and AIOLOS Curr Opin Immunol. 2021.07; 72 239-248. ( PubMed, DOI )

Kei Takasawa, Yuichi Miyakawa, Yoko Saito, Eriko Adachi, Tsunanori Shidei, Akito Sutani, Maki Gau, Ryuichi Nakagawa, Atsuko Taki, Kenichi Kashimada, Tomohiro Morio. Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation. Clin Endocrinol (Oxf). 2021.06; 94 (6): 940-948. ( PubMed, DOI )

Masayuki Nagasawa, Noriko Mitsuiki, Masakatsu Yanagimachi, Masahide Yamamoto, Tetsuya Fukuda, Osamu Miura, Ryutaro Oba, Akira Igarashi, Kinya Nagata, Tomohiro Morio. Utility of novel T-cell-specific extracellular vesicles in monitoring and evaluation of acute GVHD. Int J Hematol. 2021.06; 113 (6): 910-920. ( PubMed, DOI )

Tomohiro Morio, Kenji Gotoh, Tomoyuki Imagawa, Kimio Morita, Hidenori Ohnishi, Kozo Yasui, Jutta Hofmann, John Philip Lawo, Amgad Shebl, Mikhail A Rojavin. Safety and tolerability of IgPro10 in Japanese primary immunodeficiency patients: a registrational study. Int J Hematol. 2021.06; 113 (6): 921-929. ( PubMed, DOI )

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

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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Keisuke Okamoto, Tomohiro Morio, Yoshikazu Nakamura, Hiroshi Hataya, Koichi Mizuta, Masaaki Mori. Hospitalisations due to respiratory syncytial virus infection in children with Down syndrome before and after palivizumab recommendation in Japan. Acta Paediatr. 2021.04; 110 (4): 1299-1306. ( PubMed, DOI )

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

Miharu Yabe, Tomohiro Morio, Ken Tabuchi, Daisuke Tomizawa, Daiichiro Hasegawa, Hiroyuki Ishida, Nao Yoshida, Takashi Koike, Yoshiyuki Takahashi, Katsuyoshi Koh, Yasuhiro Okamoto, Hideki Sano, Keisuke Kato, Yoshinobu Kanda, Hiroaki Goto, Junko Takita, Takako Miyamura, Maiko Noguchi, Koji Kato, Yoshiko Hashii, Yoshiko Astuta, Hiromasa Yabe. Long-term outcome in patients with Fanconi anemia who received hematopoietic stem cell transplantation: a retrospective nationwide analysis Int. J. Hematol.. 2021.01; 113 (1): 134-144. ( PubMed, DOI )

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

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

Kento Inoue, Saeko Sasaki, Takahiro Yasumi, Kohsuke Imai, Takashi Kusunoki, Tomohiro Morio, Hirokazu Kanegane. Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia. J. Clin. Immunol.. 2020.11; 40 (8): 1132-1137. ( PubMed, DOI )

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

Inoue K, Miura H, Hoshino A, Kamiya T, Tanita K, Ohye T, Park MJ, Yanagimachi M, Takagi M, Imai K, Morio T, Yoshikawa T, Kanegane H. Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency. Transplant infectious disease : an official journal of the Transplantation Society. 2020.10; 22 (5): e13331. ( PubMed, DOI )

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

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

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Tomoya Kaneda, Eriko Tanaka, Yuko Akutsu, Toru Kanamori, Mariko Mouri, Tomohiro Morio, Masaaki Mori. Refractory secondary thrombotic microangiopathy with kidney injury associated with systemic lupus erythematosus in a pediatric patient CEN Case Rep. 2020.09; 9 (4): 301-307. ( PubMed, DOI )

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

Jiyoung Lee, Akito Sutani, Rin Kaneko, Jun Takeuchi, Tetsuo Sasano, Takashi Kohda, Kensuke Ihara, Kentaro Takahashi, Masahiro Yamazoe, Tomohiro Morio, Tetsushi Furukawa, Fumitoshi Ishino. In vitro generation of functional murine heart organoids via FGF4 and extracellular matrix Nat Commun. 2020.09; 11 (1): 4283. ( PubMed, DOI )

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

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

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

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

Hiroshi Ureshino, Shuichi Koarada, Kazuharu Kamachi, Mariko Yoshimura, Masako Yokoo, Yasushi Kubota, Toshihiko Ando, Tatsuo Ichinohe, Tomohiro Morio, Shinya Kimura. Immune dysregulation syndrome with de novo CTLA4 germline mutation responsive to abatacept therapy. Int J Hematol. 2020.06; 111 (6): 897-902. ( PubMed, DOI )

Tsubasa Okano, Kohsuke Imai, Takuya Naruto, Satoshi Okada, Motoi Yamashita, Tzu-Wen Yeh, Shintaro Ono, Keisuke Tanaka, Keisuke Okamoto, Kay Tanita, Kazuaki Matsumoto, Etsushi Toyofuku, Eri Kumaki-Matsumoto, Miko Okamura, Hiroo Ueno, Seishi Ogawa, Osamu Ohara, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity J Clin Immunol.. 2020.06; 40 (5): 729-740. ( PubMed, DOI )

Jean-Laurent Casanova, Helen C Su, . A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection. Cell. 2020.06; 181 (6): 1194-1199. ( PubMed, DOI )

Hoshino A, Nishimura A, Naruto T, Okano T, Matsumoto K, Okamoto K, Shintaku H, Tokoro S, Okamoto H, Wada T, Takagi M, Imai K, Kanegane H, Morio T. High-throughput analysis revealed the unique immunoglobulin gene rearrangements in plasmacytoma-like post-transplant lymphoproliferative disorder. Br J Haematol. 2020.05; 189 (4): e164-e168. ( PubMed, DOI )

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

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

Susumu Yamazaki, Asami Shimbo, Yuko Akutsu, Hiroshi Takase, Tomohiro Morio, Masaaki Mori. Importance of pediatric rheumatologists and transitional care for juvenile idiopathic arthritis-associated uveitis: a retrospective series of 9 cases Pediatr Rheumatol Online J. 2020.03; 18 (1): 26. ( PubMed, DOI )

Hoshino Akihiro, Tokoro Shown, Akashi Takumi, Inoue Maiko, Takagi Masatoshi, Imai Kohsuke, Kanegane Hirokazu, Muraosa Yasunori, Kamei Katsuhiko, Morio Tomohiro. Disseminated fusariosis in a child after haploidentical hematopoietic stem cell transplantation. Pediatrics International. 2020.03; 62 (3): 419-420. ( ichushi )

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 )

Takahiro Fukaishi, Isao Minami, Seizaburo Masuda, Yasutaka Miyachi, Kazutaka Tsujimoto, Hajime Izumiyama, Koshi Hashimoto, Masayuki Yoshida, Sayako Takahashi, Kenichi Kashimada, Tomohiro Morio, Kenjiro Kosaki, Yoshiro Maezawa, Koutaro Yokote, Takanobu Yoshimoto, Tetsuya Yamada. A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles. Endocr. J.. 2020.02; 67 (2): 211-218. ( PubMed, DOI )

Aziz Bousfiha, Leila Jeddane, Capucine Picard, Waleed Al-Herz, Fatima Ailal, Talal Chatila, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan, Stuart G Tangye. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. J Clin Immunol. 2020.01; 40 (1): 66-81. ( PubMed, DOI )

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

Stuart G Tangye, Waleed Al-Herz, Aziz Bousfiha, Talal Chatila, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Capucine Picard, Jennifer Puck, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020.01; 40 (1): 24-64. ( PubMed, DOI )

Stuart G Tangye, Waleed Al-Herz, Aziz Bousfiha, Talal Chatila, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Capucine Picard, Jennifer Puck, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan. Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020.01; 40 (1): 65. ( PubMed, DOI )

Mitsuru Mizuno, Kentaro Endo, Hisako Katano, Ayako Tsuji, Naomi Kojima, Ken Watanabe, Norio Shimizu, Tomohiro Morio, Ichiro Sekiya. The environmental risk assessment of cell-processing facilities for cell therapy in a Japanese academic institution PLoS ONE. 2020; 15 (8): e0236600. ( PubMed, DOI )

Tomohiro Morio, Gautam Baheti, Michael A Tortorici, Jutta Hofmann, Mikhail A Rojavin. Pharmacokinetic properties of Privigen® in Japanese patients with primary immunodeficiency. Immunol Med. 2019.12; 42 (4): 162-168. ( PubMed, DOI )

Hasegawa S, Kumada S, Tanuma N, Tsuji-Hosokawa A, Kashimada A, Mizuno T, Moriyama K, Sugawara Y, Shirai I, Miyata Y, Nishida H, Mashimo H, Hasegawa T, Hosokawa T, Hisakawa H, Uematsu M, Fujine A, Miyata R, Sakuma H, Kashimada K, Imai K, Morio T, Hayashi M, Mizutani S, Takagi M. . Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia. Pediatr Neurol. 2019.11; 100 60-66. ( PubMed, DOI )

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

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

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

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 )

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 )

Umeda K, Yabe H, Kato K, Imai K, Kobayashi M, Takahashi Y, Yoshida N, Sato M, Sasahara Y, Kato K, Adachi S, Koga Y, Okada K, Inoue M, Hashii Y, Atsuta Y, Morio T; Inherited Disease Working Group of the Japan Society for Hematopoietic Cell Transplantation.. 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 )

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 )

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 )

Iguchi A, Cho Y, Yabe H, Kato S, Kato K, Hara J, Koh K, Takita J, Ishihara T, Inoue M, Imai K, Nakayama H, Hashii Y, Morimoto A, Atsuta Y, Morio T. Long-term outcome and chimerism in patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation: a retrospective nationwide survey. Int J Hematol. 2019.06; 110 (3): 364-369. ( 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 )

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, Atusmi Hosokawa-Tsuji, Hideo Yagita, Masatoshi Takagi, Yoshiakira Kanai, Josephine Bowles, Peter Koopman, Masami Kanai-Azuma, Tomohiro Morio. Nr5a1 suppression during the fetal period optimizes ovarian development by fine-tuning of Notch signaling. J. Cell. Sci.. 2019.03; 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 )

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 )

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

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

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 )

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 )

Makiko Egawa, Kohsuke Imai, Yoko Taketani, Tomohiro Morio, Naoyuki Miyasaka. Two Prenatal Cases of Hyper-IgE Syndrome. J. Clin. Immunol.. 2019.01; 39 (1): 15-18. ( PubMed, DOI )

Isoda T, Nishimura A, Miyamoto S, Morio T, Takagi M, Murre C. Non-Coding RNA ThymoD Transcription Modulates Nuclear Architecture to Orchestrate T-Cell Fate and Block T-Cell Malignancies. Cancer Sci. 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.

Misako Nagatsuma, Kei Takasawa, Takeru Yamauchi, Ryuichi Nakagawa, Tomoko Mizuno, Eriko Tanaka, Kouhei Yamamoto, Noriko Uemura, Kenichi Kashimada, Tomohiro Morio. A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus. J. Hum. Genet.. 2018.11; 64 (2): 177-181. ( PubMed, DOI )

Kashimada A, Hasegawa S, Nomura T, Shiraku H, Moriyama K, Suzuki T, Nakajima K, Mizuno T, Imai K, Sugawara Y, Morio T, Kumada S, Takagi M. Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. Brain & development. 2018.10; 41 (2): 150-157. ( 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 )

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

Akihiro Hoshino, 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 )

Yuriko Nishiyama-Fujita, A I Kawana-Tachikawa, Toshiaki Ono, Yukie Tanaka, Takafumi Kato, Helen E Heslop, Tomohiro Morio, Satoshi Takahashi. Generation of multivirus-specific T cells by a single stimulation of peripheral blood mononuclear cells with a peptide mixture using serum-free medium. Cytotherapy. 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 )

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 )

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 <delta> Syndrome Type 1. J. Allergy Clin. Immunol.. 2018.05; 143 (1): 266-275. ( 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; 108 (3): 319-328. ( 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 )

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 )

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 )

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; 38 (3): 300-306. ( 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 )

Rina Nishii, Takaya Moriyama, Laura J Janke, Wenjian Yang, Chase 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 anti-leukemic efficacy. Blood. 2018.03; 131 (22): 2466-2474. ( 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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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

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; 14 82. ( PubMed, 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 )

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 )

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.. 2017.12; 141 (4): 1485-1488. ( 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 )

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 )

Mari Tanaka-Kubota, Koji Shinozaki, Satoshi Miyamoto, Masakatsu Yanagimachi, Tsubasa Okano, Noriko Mitsuiki, Masahiro Ueki, Masafumi Yamada, Kohsuke Imai, Masatoshi Takagi, Kazunaga Agematsu, Hirokazu Kanegane, Tomohiro Morio. Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease. Int. J. Hematol.. 2017.11; 107 (5): 610-614. ( PubMed, DOI )

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

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

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 )

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 )

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.. 2017.10; 99 (6): 525-531. ( 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. 2017.10; 67 (1): 43-54. ( 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 )

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

Jennifer W Leiding, Satoshi Okada, David Hagin, Mario Abinun, Anna Shcherbina, Dmitry N Balashov, Vy H D Kim, Adi Ovadia, Stephen L Guthery, Michael Pulsipher, Desa Lilic, Lisa A Devlin, Sharon Christie, Mark Depner, Sebastian Fuchs, Annet van Royen-Kerkhof, Caroline Lindemans, Aleksandra Petrovic, Kathleen E Sullivan, Nancy Bunin, Sara Sebnem Kilic, Fikret Arpaci, Oscar de la Calle-Martin, Laura Martinez-Martinez, Juan Carlos Aldave, Masao Kobayashi, Teppei Ohkawa, Kohsuke Imai, Akihiro Iguchi, Chaim M Roifman, Andrew R Gennery, Mary Slatter, Hans D Ochs, Tomohiro Morio, Troy R Torgerson, . Hematopoietic stem cell transplantation in patients with Gain of Function STAT1 Mutation. J. Allergy Clin. Immunol.. 2017.10; 141 (2): 704-717. ( PubMed, DOI )

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

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 )

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 )

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): 26388. ( PubMed, DOI )

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

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

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.. 2017.06; 37 (5): 486-495. ( 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 )

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 )

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 )

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 )

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 )

Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio. Severe combined immunodeficiency: From its discovery to the perspective. Nihon Rinsho Meneki Gakkai Kaishi. 2017.03; 40 (3): 145-154. ( 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 )

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.. 2017.01; 139 (6): 1914-1922. ( 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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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.. 2015.11; 35 (1): 15-21. ( 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 )

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 )

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 )

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 )

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 )

Yohei Matsubara, Tomoko Kato, Kenichi Kashimada, Hiromitsu Tanaka, Zhou Zhi, Shizuko Ichinose, Shuki Mizutani, Tomohiro Morio, Tomoki Chiba, Yoshiaki Ito, Yumiko Saga, Shuji Takada, Hiroshi Asahara. TALEN-Mediated Gene Disruption on Y Chromosome Reveals Critical Role of EIF2S3Y in Mouse Spermatogenesis. Stem Cells Dev.. 2015.03; 24 (10): 1164-1170. ( 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 )

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 )

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 )

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 )

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 )

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 )

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 )

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

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

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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

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

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 )

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 )

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 )

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 )

Fumiko Honda, Hirotsugu Kano, Hirokazu Kanegane, Shigeaki Nonoyama, Eun-Sung Kim, Sang-Kyou Lee, Masatoshi Takagi, Shuki Mizutani, Tomohiro Morio. 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 )

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 )

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 )

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 )

Kazuo Okamoto, Yoshiko Iwai, Masatsugu Oh-Hora, Masahiro Yamamoto, Tomohiro Morio, Kazuhiro Aoki, Keiichi Ohya, Anton M Jetten, Shizuo Akira, Tatsushi Muta, Hiroshi Takayanagi. 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 )

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 )

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 )

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.

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 )

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 )

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 )

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 )

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 )

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 )

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

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 )

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 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 )

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 )

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 )

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 )

H Okawa, M Nagasawa, T Morio, K Takase, K Tanaka, J Yata, K Dan, T Nomura, H Sakamaki, Y Onozawa. Peroxidase-negative and myelomonocytic antigen-positive acute leukemia. Int. J. Hematol.. 1992.04; 55 (2): 165-171. ( PubMed )

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 )

T Morio, M Nagasawa, J Yata. Gamma-delta T cells in patients with primary immunodeficiency syndrome: their function and a possible role in the pathogenesis. Chem. Immunol.. 1992; 53 102-120. ( PubMed )

T Suzuki, M Bessho, K Hirashima, S Tohda, K Nagata, T Morio, Y Imai, N Nara. 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 )

M Nagasawa, T Morio, S Takagi, J Yata. Generation and function of γδ T cells after allogeneic bone marrow transplantation in humans: comparison in absence or presence of HLA-matched or mismatched thymus. Acta Paediatr Jpn. 1991.04; 33 (2): 146-158. ( PubMed )

T Suzuki, T Morio, S Tohda, K Nagata, Y Yamashita, Y Imai, N Aoki, K Hirashima, N Nara. Effects of interleukin-6 and granulocyte colony-stimulating factor on the proliferation of leukemic blast progenitors from acute myeloblastic leukemia patients. Jpn. J. Cancer Res.. 1990.10; 81 (10): 979-986. ( PubMed )

S Tohda, T Morio, T Suzuki, K Nagata, T Kamiyama, Y Imai, N Nara, N Aoki. Richter syndrome with two B cell clones possessing different surface immunoglobulins and immunoglobulin gene rearrangements. Am. J. Hematol.. 1990.09; 35 (1): 32-36. ( PubMed )

T Morio, M Nagasawa, S Nonoyama, H Okawa, J Yata. Phenotypic profile and functions of T cell receptor-γδ-bearing cells from patients with primary immunodeficiency syndrome. J. Immunol.. 1990.02; 144 (4): 1270-1275. ( PubMed )

N Nara, T Suzuki, K Nagata, S Tohda, Y Yamashita, Y Nakamura, Y Imai, T Morio, M Minamihisamatsu. Granulocyte colony-stimulating factor-dependent growth of an acute myeloblastic leukemia cell line. Jpn. J. Cancer Res.. 1990; 81 (6-7): 625-631. ( PubMed )

N Nara, S Tohda, T Suzuki, K Nagata, Y Yamashita, Y Imai, T Morio, M Bessho, A Shibuya, Y Adachi. Terminal differentiation to mature neutrophils and eosinophils in suspension culture of the blast progenitors in acute myeloblastic leukemia. Hematol Pathol. 1990; 4 (3): 125-134. ( PubMed )

T Morio, S Nonoyama, J Yata. Suppression of in vitro immunoglobulin synthesis by CD16(Leu11a)+ CD56 (NKH1,Leu19)+non-T lineage NK cells; lack of suppression of cells from immunodeficient patients. Clin. Exp. Immunol.. 1989.11; 78 (2): 159-165. ( PubMed )

T Morio, K Takase, H Okawa, M Oguchi, M Kanbara, F Hiruma, K Yoshino, T Kaneko, S Asamura, T Inoue. The increase of non-MHC-restricted cytotoxic cells (γδ-TCR-bearing T cells or NK cells) and the abnormal differentiation of B cells in Wiskott-Aldrich syndrome. Clin. Immunol. Immunopathol.. 1989.08; 52 (2): 279-290. ( PubMed )

Masatoshi Takagi, Motoi Yamashita, Takahiro Tomoda, Takeshi Isoda, Makiko Egawa, Masayuki Yoshida, Tsutomu Toki, Ko Kudou, Kiminori Terui, Etsuro Ito, Tomohiro Morio. Transient erythroblastopenia by GATA1 variant in female. . Human Genetics Asia 2023 2023.10.14 Tokyo

Eriko Adachi, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, Maki Gau, Shizuka Kirino, Analia Yogi, Hikase Nakatani, Tomomi Yamaguchi, Masanori Murakami, Toshihiro Tajima, Tomonobu Hasegawa, Tetsuya Yamada, Tomohiro Morino, Osamu Ohara, Kenichi Kashimada . Development of a clinically applicable one-step PCR-based CYP21A2 analysis using long read sequences. Human Genetics Asia 2023( 68th Annual Meeting of Japan Society of Human Genetics/ 14th Asia Pacific Conference on Human Genetics/ 22nd Annual meeting of East Asian Union of human Genetics Societies) 2023.10.14 Tokyo, Japan

Manabu Sugie, Yusuke Noguchi, Nobutoshi Nawa, Ayako Kashimada, Kazuyuki Ito, Tsutomu Kondo, Satoshi Kusuda, Chikako Morioka, Tomohiro Morio, Kenichi Kashimada. Implication of Acquiring Oxidative Stress Resistance in Chorioamnionitis Leading to Reduced Risk of Severe Retinopathy of Prematurity. FAOPS 2023; The 22nd Congress of the Federation of Asia and Oceania Perinatal Societies 2023.10.09 Tokyo

Satoshi Miyamoto, Daiki Niizato, Takahiro Kamiya, Takeshi Isoda, Masatoshi Takagi, Shohei Azumi, Shinsuke Hirabayashi, Kenichi Sakamoto, Kenji Kishimoto, Takako Miyamura, Katsutsugu Umeda, Masakatsu Yanagimachi, Kaori Kanda, Yasuhiro Ikawa, Kenichiro Watanabe, Tatsuo Ichinohe, Hirotoshi Sakaguchi, Tomohiro Morio, Hirokazu Kanegane. Allogenic hematopoietic cell transplantation with alemtuzumab in Asian patients with inborn errors of immunity Satoshi Miyamoto. ICBMT2023 2023.09.01 Busan, Korea

Dan Tomomasa, Tasuku Suzuki, Ichiro Takeuchi, Kimitoshi Goto, Shin-Ichiro Hagiwara, Dai Keino, Satoshi Saida, Takashi Ishige, Takahiro Kudo, Masataka Ishimura, Motohiro Kato, Yoji Sasahara, Tomohiro Morio, Katsuhiro Arai, Hirokazu Kanegane. Clinical and genetic characteristics of IL10RA deficiency patients in Japan. The 2nd International Symposium of Clinical Immunology 2023.05.19 Kanagawa

Kaneko S, Shimbo A,Irabu H, Shimizu M, Mori M, Morio T. Clinical significance of serum cytokine profiling for the differentiation of underlying diseases in cytokine storm syndrome. The 2nd International Symposium of Clinical Immunology 2023.05.19 Kanagawa

Tomohiro Morio. Novel Gene Discovery. Asia Pacific Society for Immunodeficiencies (APSID) 2023.04.23 Hong Kong

Shizuka Kirino, Ryuichi Nakagawa, Kei Takasawa, Maki Gau, Atsumi Tsuji-Hosokawa, Liang Zhao, Josephine Bowles, Peter Koopman, Tomohiro Morio, Kenichi Kashimada. Application of Cap analysis of gene expression (CAGE) in genetic analysis of mouse sex differentiation. Ninth International Symposium on the Biology of Vertebrate Sex Determination 2023.04.17 Kailua-Kona, HAWAII

Morio T. Dissection of the molecular pathogenesis of transcription factor defects using model mice/cell systems. . The 17th International Symposium on Inborn Errors of Immunity 2022.10.28 Los Angels

Morio T.. IKZF3 deficiency: LOF? DN? Neomorph? . The 20th annual meeting of ESID 2022.10.12 Gothenburg

Shizuka Kirino, Analia Gisela Yogi, Eriko Adachi, Maki Gau, Hisae Nakatani, Toru Kanamori, Tomohiro Udagawa, Kei Takasawa, Kenichi Kashimada, Tomohiro Morio. The first family case of 46,XX DSD due to pathogenic variant of WT1 Zinc Finger domain 4. The 12th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society 2022 2022.10.06 Seoul, KOREA

Analia Gisela Yogi, Kenichi Kashimada, Ryosei Iemura, Hisae Nakatani, Kei Takasawa, Maki Gau, Takeru Yamauchi, Masayuki Yoshida, Tomohiro Morio. A case of BMP2 defficiency with short stature. The 12th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society 2022 2022.10.06 Seoul, KOREA

Masatoshi Takagi, Chitose Ogawa, Tomoko Iehara, Yuki Aoki-Nogami, Eri Isibashi, Minoru Imai, Toshimi Kimura, Masashi Nagata, Masato Yasuhara, Mitsuko Masutani, Kenichi Yoshimura, Daisuke Tomizawa, Atsushi Ogawa, Kan Yonemori, Tetsuro Kihara, Kiyoshi Nobori, Kazuhisa Hasebe, Shuki Mizutani, Tomohiro Morio, Hajime Hosoi, Ryuji Koike. First In Children Phase I Clinical Study Of Oral Olaparib In Pediatric Patients With Refractory Solid Tumors. SIOP2021 2021.10.24 Honolulu（Web）

Imanaka Y, Taniguchi M, Doi T, Shimomura M, Tsumura M, Karakawa S, Imai K, Morio T, Puel A, Casanova JL, Ohara O, Kamei K, Kobayashi M, Okada S. Card9 deficiency in a patient with invasive infection due to exophiala dermatitidis and the asymptomatic siblings. 19th Biennial Meeting of The European Society of immunodeficiencies (ESID 2020) 2020.10.14 web

Tanita K, Sakura F, Tsumura M, Ohnishi H, Hoshino A, Suzuki K, Okada S, Nambu R, Umetsu S, Imai K, Morio T, Kanegane H. Patients with the GAIN-OF-FUNCTION mutations in STAT3 present with a variety of autoimmune diseases. 19th Biennial Meeting of The European Society of immunodeficiencies (ESID 2020) 2020.10.14 web

Satoshi Miyamoto , Masakatsu Yanagimachi , Katsutsugu Umeda , Akihiro Iguchi , Yoji Sasahara , Hidetoshi Takada , Masafumi Yamada , Masataka Ishimura ,Takashi Koike , Masahiro Yasui , Yoshiyuki Takahashi , Hiroshi Kawaguchi , Michiko Kajiwara , Masami Inoue , Koji Kato, Yoshiko Hashii, Yoshiko Atsuta , Hiromasa Yabe , Kohsuke Imai , Tomohiro Morio. Hematopoietic stem cell transplantation for inborn errors of immunity in Japan: overview of a nationwide retrospective analysis. 46th Annual Meeting of the European Society for Blood and Marrow Transplantation (EBMT 2020 Virtual) 2020.08.29

Satoshi Miyamoto, Masakatsu Yanagimachi, Katsutsugu Umeda, Akihiro Iguchi, Yoji Sasahara, Hidetoshi Takada, Yoshiyuki Takahashi, Michiko Kajiwara, Masami Inoue, Koji Kato, Yoshiko Hashii, Yoshiko Atsuta, Hiromasa Yabe, Kohsuke Imai, Tomohiro Morio. Hematopoietic stem cell transplantation for severe combined immunodeficiency in Japan: a nationwide retrospective analysis. 46th Annual Meeting of the European Society for Blood and Marrow Transplantation (EBMT 2020 Virtual) 2020.08.29

Mikhail A.Rojavin,Tomohiro Morio,Dandan Luo,Gautam Baheti,Jutta Hofmann,Michael A.Tortorici. INDIVIDUAL AND POPULATION-LEVEL PHARMACOKINETIC PROPERTIES OF PRIVIGEN® IN JAPANESE PATIENTS WITH PRIMARY IMMUNODEFICIENCY(PID). The 3rd Annual Scientific Meeting of the Japanese Society for Immunodeficiency and Autoinflammatory Diseases (JSIAD) 2020.02.15 Tokyo

Miko Okamura, Kay Tanita, Hidetoshi Takada, Tetsuo Mitsui, Yoshiyuki Minegishi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane. Somatically reverted T cells in dedicator of cytokinesis 8 deficiency modify cellular immunity. 3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies 2020.02.09 Chandigarh, India

Takahiro Tomoda, Tsubasa Okano, Kento Inoue, Motoi Yamashita, Takahiro Kamiya, Takeshi Isoda Masakatsu Yanagimachi, Hirokazu Kanegane, Masatoshi Takagi, Tomohiro Morio, Kohsuke Imai. Second transplantation rescued the graft failure after hematopoietic stem cell transplantation. 3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies 2020.02.09 Chandigarh, India.

Takahiro Tomoda, Tsubasa Okano, Kento Inoue, Motoi Yamashita, Takahiro Kamiya, Takeshi Isoda, Masakatsu Yanagimachi, Hirokazu Kanegane, Masatoshi Takagi, Tomohiro Morio, Kohsuke Imai. An intractable case of hyper IgE syndrome. APSID (Asia Pacific Society for Immunodeficiencies) School cum Workshop 2020.02.06 Chandigarh, India.

Haruka Hiroki, Masatoshi Takagi, Yuko Ishi, Jinhua Piao, Tomohiro Morio. PARP Inhibition Sensitize BCR-ABL1 Positive Cell. 61st American Society of Hematology (ASH) Annual Meeting and Exposition 2019.12.08 Orlando

Satoshi Miyamoto, Takuya Naruto, Tomohiro Morio, Kevin Y Urayama, Atsushi Manabe, Masatoshi Takagi. Association of Germline Variants of TCF3 and PAX5 with Pediatric Acute Lymphoblastic Leukemia Development. 61st American Society of Hematology (ASH) Annual Meeting and Exposition 2019.12.07 Orlando

Hoshino A, Okano T, Matsumoto K, Nishimura A, Shintaku H, Tokoro S, Okamoto H, Wada T, Mitsuiki N, Kajiwara M, Takagi M, Imai K, Kanegane H, Morio T. Plasmacytoma-Like Post-Transplant Lymphoproliferative Disorder with Multiple Autoantibodies in a XIAP Deficient Patient　. 2019 Focused Meeting of the European Society of Immunodeficiencies (ESID2019) 2019.10.18 Brussels, Belgium

Okano T, Imai K, Naruto T, Okada S, Okamoto K, Yamashita M, Yeh T. W, Takagi M, Kanegane H, Morio T　. Diagnostic Approach by Whole Exome Sequencing for 141 Patients of Inborn Errors of Immunity　. 2019 Focused Meeting of the European Society of Immunodeficiencies (ESID2019) 2019.10.18 Brussels, Belgium

Sakata S, Okada S, Matsubayashi T, Tamaura M, Tsumura M, Okano T, Imai K, Bustamante J, Morio T, Casanova JL, Kobayashi M. . The First Intronic Mutations Which Caused Autosomal Recessive Complete STAT1 Deficiency　. 2019 Focused Meeting of the European Society of Immunodeficiencies (ESID2019) 2019.10.18 Brussels, Belgium

Takeru Yamauchi, Kei Takasawa, Yoshichika Maeda, Manabu Takahashi, Tomohiro Morio, Shun Isibashi, Kenichi Kashimada. A case of homozygous familial hypobetalipoproteinemia associated with chronic liver dysfunction. 第53回日本小児内分泌学会学術集会 2019.09.27 京都

Morio T, Gotoh K, Imagawa T, Morita K, Ohnishi H, Yasui K, Hofmann J, Lawo JP, Shebl A, Rojavin MA. Safety and Tolerability of IgPro10 (PRIVIGEN®) in Japanese Patients with Primary Immunodeficiency: Data From A Phase 3 Study. 2019 Focused Meeting of the European Society of Immunodeficiencies (ESID2019) 2019.09.20 Brussels

Nishimura A, Naruto T, Hoshino A, Amano K, Iwamoto S, Hirayama M, Grigg A, Bosco J J, Migita M, Takagi M, Ohara O, Morio T, van Zelm MC, Kanegane H. Genomics Analysis of Leukemia Predisposition in X-Linked Agammaglobulinemia. 2019 Focused Meeting of the European Society of Immunodeficiencies (ESID2019) 2019.09.20 Brussels

Hoshino A, Okano T, Matsumoto K, Nishimura A, Shintaku H, Tokoro S, Okamoto H, Wada T, Mitsuiki N, Kajiwara M, Takagi M, Imai K, Kanegane H, Morio T. Plasmacytoma-Like Post-Transplant Lymphoproliferative Disorder with Multiple Autoantibodies in a XIAP Deficient Patient. 2019 Focused Meeting of the European Society of Immunodeficiencies (ESID2019) 2019.09.20 Brussels

Morio T, Baheti G, Tortorici MA, Hofmann J, Rojavin MA. Pharmacokinetic Properties of IgPro10 in Japanese Patients with Primary Immunodeficiency. 2019 Focused Meeting of the European Society of Immunodeficiencies (ESID2019) 2019.09.20 Brussels

Okano T, Imai K, Naruto T, Okada S, Okamoto K, Yamashita M, Yeh T. W, Takagi M, Kanegane H, Morio T. Diagnostic Approach by Whole Exome Sequencing for 141 Patients of Inborn Errors of Immunity. 2019 Focused Meeting of the European Society of Immunodeficiencies (ESID2019) 2019.09.19 Brussels

Sakata S, Okada S, Matsubayashi T, Tamaura M, Tsumura M, Okano T, Imai K, Bustamante J, Morio T, Casanova JL, Kobayashi M. The First Intronic Mutations Which Caused Autosomal Recessive Complete STAT1 Deficiency. 2019 Focused Meeting of the European Society of Immunodeficiencies (ESID2019) 2019.09.19 Brussels

Cardinez C, Miraghazadeh B, Tanita K, da Silva E, Hoshino A, Okada S, Chand R, Asano T, Tsumura M, Yoshida K, Ohnishi H, Kato Z, Yamazaki M, Okuno Y, Miyano S, Kojima S, Ogawa S, Andrews TD, Field MA, Burgio G, Morio T, Vinuesa CG, Kanegane H, Cook M. Gain-of-Function IKBKB Mutation Causes Human Combined Immune Deficiency. 2019 Focused Meeting of the European Society of Immunodeficiencies (ESID2019) 2019.09.19 Brussels

Morio T. Disorders caused by a defect in IKAROS family protein. 2019 Samsung Medeikal Center Primary Immunodeficiency Symposium 2019.07.06 Seoul

Morio T. Primary immunodeficiency disorders caused by a mutation in IKAROS family gene. RIKEN IMS-JSI International Symposium on Immunology 2019 2019.06.25 Tokyo

Nishimura Akira, Aoki Yuki, Ishiwata Yasuyoshi, Inoue Maiko, Ichimura Takuya, Ueyama Junichi, Matsumoto Kazuaki, Inoue Kento, Hiroki Haruka, Ono Shintaro, Okano Tsubasa, Tanaka Mari, Miyamoto Satoshi, Ashiarai Miho, Miyawaki Reiji, Yamagishi Chika, Tezuka Mari, Okawa Teppei, Hoshino Akihiro, Endo Akifumi, Yasuhara Masato, Kamiya Takahiro, Mitsuiki Noriko, Ono Toshiaki, Yanagimachi Masakatsu, Isoda Takeshi, Tomizawa Daisuke, Nagasawa Masayuki, Kajiwara Michiko, Takagi Masatoshi, Mizutani Shuki, Kanegane Hirokazu, Imai Kohsuke, Morio Tomohiro. Hematopoietic cell transplantation with reduced intensity conditioning regimen using fludarabine/busulfan and fludarabine/melphalan for primary immunodeficiency diseases . The 45th Annual Meeting of the European Society for Blood and Marrow Transplantation 2019.03.24 Frankfurt

Tanita K, Cardinez C, Miraghanzadeh B, Hoshino A, Okada S, Asano T, Tsumura M, Ohnishi H, Kato Z, Morio T, Vinuesa CG, Kanegane H, Cook MC. Gain-of-function IKBKB mutation causes human combined immune deficiency. 第2回日本免疫不全・自己炎症学会総会・学術集会 2019.02.02 東京

Lin HT, Kubara K, Yamazaki K, Takagi M, Naruto T, Morio T, Okumura T, Otsu M. Enhanced Selective Inhibition of KRAS Mutant Hematopoietic Progenitor Cell Expansion By MEK and Bcl-2 Inhibition . 60st American society of Hematology Annual Meeting & Exposition 2018.12.01 San Diego

Isoda T, Nishimura A, Miyamoto S, Morio T, Takagi M, Murre C. Non-Coding RNA thymod transcription modulates nuclear architecture to Orchestratet-Cell fate and block T-Cell malignancies. SIOP2018 2018.11.17 Kyoto

Satoshi Miyamoto, Takuya Naruto, Tomohiro Morio, Kevin Urayama, Atsushi Manabe, Masatoshi Takagi. 小児B前駆細胞性急性リンパ性白血病患者におけるTCF3のバリアント. 第60回日本小児血液・がん学会学術集会 2018.11.15 京都

Okano T, Cho K, Kwamura S, Onai N, Fujii W, Kakuta S, Kanai-Azuma M, Ohteki T, Otsu M, Ariga T, Morio T. . Induced Pluripotent Stem Cell (IPSC)-Derived Macrophages Recapitulate the Pathological Features of Pulmonary Alveolar Proteinosis Caused by OAS1 Mutation.. 18th Biennial Meeting of the European Society of Immunodeficiencies (ESID2018) 2018.10.25 Lisbon

Leiding J,Vogel T, Heimall J, Gignon Jadoul V, Mhaskar R, Cooper M, O`Sullivan M, Giovannini-Chami L, Thatayatikom B, Bauer C, Hamalainen S, Taskinen M, Seppanen M,Adeli M, Formankova R, Heeg M, Pozos T, Szabolcs P, Morio T, Chua I, Hague R, Hambleton S, Tangye S, Gennery A, Cunningham-Rundles C, Su H, Rao K, Milner J, Ehl S, Forbes L.. The Natural Hisory of STAT3-GOF-The Range of Clinical Manifestations and Treatment Options.. 18th Biennial Meeting of the European Society of Immunodeficiencies (ESID2018) 2018.10.25 Lisbon

Yeh T. W, Okano T, Okamoto K, Yamashita M, Takashima T, Mitsuki N, Okada S, Kanegane H, Imai K, Morio T.. April Deficiency as a Cause of Common Variable Immunodeficiency. . 18th Biennial Meeting of the European Society of Immunodeficiencies (ESID2018) 2018.10.25 Lisbon

Morio T, Nakajima K, Okado H.. Benzodiazepine-resistant status epilepticus in children: Alteration in GABAAR signal in children and its potential preventive measure. The World Federation of Societies of Biological Psychiatry (WFSBP). 2018.09.07 Kobe

Tomohiro Morio. Overview and Updates on PID. 2018 Samsung Medeikal Center Primary Immunodeficiency Symposium 2018.07.14 Seoul,Korea

Okamoto K, Shigemizu D, Okano T, Yeh TW, Takashima T, Yamashita M, Ono S, Mitsuiki N, Takagi M, Mori M, Kanegane H, Tsunoda T, Imai K, Morio T. Gwhole exome sequence analysis using the known and candidate genes for primary immunodeficiency diseases. The 2nd APSID Scientific Congress 2018.05.07 Chonquing, China

Yeh TW, Okano T, Okamoto K, Yamashta M, Takashima T, Mitusiki N, Okada S, Kaneganwe H, Imai K, Morio T. APRIL deficiency a as a cause of common variable immunodeficiency. The 2nd APSID Scientific Congress 2018.05.07 Chonquing, China

中川竜一, 高澤啓, 葉姿文, 今井耕輔, 鹿島田健一, 森尾友宏. P13Kδ活性型変異により発症したと考えられる1型糖尿病の1例 . 第91回日本内分泌学会学術集会 2018.04.27 宮崎

髙澤啓, 辻敦美, 野村莉紗, 滝島茂, 和田泰格, 長崎啓祐, 伊達木澄人, 沼倉周彦, 森尾友宏, 鹿島田健一. 小児A型インスリン抵抗症の臨床像と遺伝学的背景. 第91回日本内分泌学会学術集会 2018.04.26 宮崎

Tsuji-Hosokawa A, Kato T, Ogawa Y, Nomura R, Lavery R, Takasawa K, Harley V, Morio T, Takeda S, Kashimada K. SOX9 and FOXL2 Antagonistically Regulate Peptidyl Arginine Deiminase 2 (PADI2) Expression during testicular Development. 8th International Symposium on the Biology of Vertebrate Sex determination 2018.04.16 Kona

Tomohiro Morio. Multi-virus specific T cell therapy for drug-resistant viral infection following hematopoietic cell transplantation. The 5th IMSUT-CGCT Symposium 2018.01.30 Tokyo

山下基, 満生紀子, 岡田賢, 井上裕三朗, 中世古知昭, Aditya K. Padhi, Kam Y Zhang, 小原收, 今井耕輔, 高木正稔, 金兼弘和, 谷内一郎, 森尾友宏. IKZF3ヘテロ結合型ミスセンス変異によるB細胞欠損症. 第1回日本免役不全・自己炎症学会総会・学術集会 2018.01.20 東京

Tomohiro Morio. Molecular and cellular basis of systemic immune disease.. The 46th Annual Meeting of The Japanese Society for Immunology 2017.12.13 Miyagi

Matsumoto K, Takagi M, Ishiwata Y, Aoki Y, Miyamoto S, Hoshino A, Nishimura A, Tanaka M, Yanagimachi M, Mitsuiki N, Imai K, Kanegnane H, Kajiwara M, Takikawa K, Mae T, Tomiota O, Fujimura J, Yasuhara M, Tomizawa D, Mizutani S, Morio T. HLA haploidentical HCT using clofarabine and busulfan for refractory pediatric leukemia. JSH 2017 2017.10.20 Tokyo

Morio T. Investigational Gene Analysis for Primary Immunodeficiency Diseases. Asia Pacific Society for Immunodeficiencies(APSID) 2017.10.10 Hong Kong

Morio T. Hematopoietic Cell Transplantation for Primary Immunodeficiency Diseases.: Current Situation and Future Direction. Asia Pacific Society for Immunodeficiencies(APSID) 2017.10.10 Hong Kong

Yamashita M, Mitsuiki N, Inoue Y, Okada S, Padhi A.K, Zhang K.Y, Ohara O, Taniuchi I, Morio T. Heterozygous IKZF3 Mutation in Patients with B cell Deficiency. ESID 2017 2017.09.14 Edinburgh,UK

Kumaki E, Ono S, Shiota M, Saito N, Kanazawa N, Ida H, Oda H, Nishikomori R, Saito M, Lin H.T, Otsu M, Morio T. Neutrophil Function in PSTPIP1 Mutations.. ESID 2017 2017.09.13 Edinburg,UK

Kodawaki T, Ohnishi H, Kanegane H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Kawai T, Hiejima E, Takagi M, Imai K, Nishikomori R, Ito S, Heiki T, Ohara O, Morio T, Fukao T. A Nation-wide Survey of Haploinsufficiency of A20 Reveals the Frequent Coincidence of Autoimmunity in Japan. ESID 2017 2017.09.13 Edinburgh, UK

Okano T, Imai K, Mitui-Sekinaka K, Yeh T.W, Takashima T, Kanegane H, Nonoyama S, Morio T. Combined Immunodeficiency and Progressive Lymphoproliferative Diseases of Activated P13Kγ Syndrome Rescued by Hematopoietic. ESID 2017 2017.09.12 Edinburgh, UK

Ono S, Yanagimachi M, Okano T, Hoshino A, Takagi M, Imai K, Morio T, Kanegane H. Inflammatory Bowel Disease Associated with XIAP Deficiency can be cured by Hematopoietic Stem Cell Transplantation. ESID 2017 2017.09.12 Edinburgh, UK

Okamoto K, Okano T, Kumaki E, Tanaka E, Ono S, Wada T, Ohnishi H, Kato Z, Nunoi N, Imai K, Kanegane H, Mori M, Morio T. A Case of Non-Pulmonary Sarcoidosis Due to Novel Hypomorphic Missense Mutation of NCF2. ESID 2017 2017.09.11 Edinburgh,UK

Cell and Gene Therapy for Hematological Disorders. The 8th JSH International Symposium 2017 2017.05.01 Miyazaki, Japan

Okano T, Watanabe E, Takashima T, Nishikawa T, Kawano Y, Tomoda T, Tanaka-Kubota M, Miyamoto S, Yeh T, Yamashita M, Tanaka K, Mitusiki N, Ohara O, Takagi M, Imai K, Kanegane H, Morio T.. IGG1 Gammopathy in X-SCID Caused by Maternal T and B cell Engraftment. 17th Biennial Meeting of the European Society for Immunodeficiencies 2016.09.23 Barcelona, Spain

Moriya K, Tanita K, Ohnishi H, Niizuma H, Rikiishi T, Nishikomori R, Ishige T, Imai K, Kanegane H, Sasahara Y, Arakawa H, Kure S, Morio T.. I⃐B-α S32 Mutations Underly Ectodermal Dysplasia with Immunodeficiency Manifestations and Correlation with Immunological Parameters.. 17th Biennial Meeting of the European Society for Immunodeficiencies 2016.09.23 Brcelona, Spain

Mitsui-Sekinaka K, Imai K, Tsujita Y, Mitsuiki N, Asano T, Sekinaka Y, Kanegane H, Yoshida K, Miyano S, Kojima S, Ogawa S, Ohara O, Okada S, Kobayashi M, Takagi M, Morio T, Nonoyama S.. Activated P13 Kinase Delta Syndrome (APDS)-Like Immunodeficiency Caused by PTEN Mutation. 17th Biennial Meeting of the European Society for Immunodeficiencies 2016.09.22 Barcelona, Spain

Sekinaka Y,Mitsuiki N,Imai K,Yabe M,Mitsui-Sekinaka K,Honma K,Arai A,Yoshida K,Miyano S,Seiji K,Hira A,Takata M,Ohara O,Ogawa S,Morio T,Nonoyama S. Common Variable Immunodeficiency Caused by Fanc Mutations. 17th Biennial Meeting of the European Society for Immunodeficiencies 2016.09.22 Brcelona, Spain

Leiding J,Okada S,Shcherbina A,Abinun M,Pulsipher M,Hagin D,Linemans C,Sullivan K,Bunin N,Kilic S,De La Calle-Martin O,Roiman C,Aldave J.C,Iguchi A,Imai K,Ohkawa T,Gennery A,Slatter M,Ochs H,Mori T,Torgerson T. Hematopoietic Stem cell Transplantation in Patients with Gain of Function STAT1 Mutation. 17th Biennial Meeting of the European Society for Immunodeficiencies 2016.09.22 Barcelona, Spain

Hoshino A, Okada S, Yoshida K, Nishida N, Yamashita M, Okano T, Tsumura M, Nishimura S, Sakata S, Takagi M, Imai K, Miyano S, Ogawa S, Kojima S, Nonoyama S, Morio T, Kanegane H. . Abnormal Hematopoiesis and Autoimmunity in Humans with Germline IKZF1 Mutations. 17th Biennial Meeting of the European Society for Immunodeficiencies 2016.09.22 Barcelona, Spain

Morio T. Cell processing facility. International regulatory endeavor towards sound development of human cell therapy products. 2015.02.18 Tokyo

H. Takada, T. Takimoto, M. Ishimura, M. Urata, T. Morio, T. Hara. Wiskott-aldrich syndrome in a girl caused by heterozygous wasp mutation and extremely skewed x-chromosome inactivation:an association of non-randome x-chromosome inactivation and uniparental isodisomy 6. 16th Biennial Meeting of the European society for immunodeficiencies 2014.10.31 Prague, Czech Republic

T. Wada, T. Toma, M. Yasui, M. Inoue, K. Kawa, K. Imai, T. Morio, A. Yachie. Different leaky phenotype in two siblings with x-linked severe combined immunodeficiency. 16th Biennial Meeting of the European society for immunodeficiencies 2014.10.31 Prague, Czech Republic

N. Mitsuiki, X. Yang, S. Bartol, Y.Kosaka, H.Takada, K. Imai, H. Kanegane, S. Mizutani, M. Van der Burg, M. Van Zelm, O. Ohara, T. Morio. Mutations in bruton's tyrosine kinase impair IgA responses. 16th Biennial Meeting of the European society for immunodeficiencies 2014.10.30 Prague, Czech Republic

K. Imai, Y. Tsujita, K. Mitsui-Sekinaka, N. Mitsuiki, T. Takashima, T. Okano, Y. Aoki, F. Kimoto, M. Inoue, F. Iwasaki, T. Kaneko, T. Waragai, H. Sano, A. Kikuta, T. Morio, S. Nonoyama. Hematopoietic stem cell transplantation for the patients with activated PI3K-delta syndrome. 16th Biennial Meeting of the European society for immunodeficiencies 2014.10.30 Prague, Czech Republic

T.Takashima, Y. Tsujita, T.W.Yeh, N. Mitsuiki, H. Kanegane, S Kracker, A.Durandy, S. Nonoyama, T. Morio, K. Imai. Clinical and immunological features of patients with gain-of-function PIK3CD mutations in japan. 16th Biennial Meeting of the European society for immunodeficiencies 2014.10.30 Prague, Czech Republic

L. Gamez-Diaz, D. August, N. Kanariou, S. Seneviratne, C. Speckmann, M. Seidel, M. Noriko, T. Morio, M. Jordan, P. Stepensky, B. Grimbacher. LRBA deficiency:clinical, immunologic and genetic characterization. 16th Biennial Meeting of the European society for immunodeficiencies 2014.10.30 Prague, Czech Republic

Morio T, Fujita Y, Ono T, Ochiai N, Leen A.M, and Takahashi S.. Development of simplified method for generation of multivirus-specific T cells.. 2014 International Symposium and Annual Meeting of Korean Society of Microbiology and Biotechnology. 2014.06 Busan, Korea.

Morio T.. Primary Immunodeficiency.. Brain Korea 21 Plus Project Seminar. 2014.05

Tomohito Takimoto, Hidetoshi Takada, Masataka Ishimura, Tomohiro Morio, Toshiro Hara. A Japanese Female Case of Wiskott-Aldrich Syndrome with Skewed X-chromosome Inactivation. The 4th JSH International Symposium 2013 in EHIME 2013.05 EHIME, Japan

Mari Tezuka, Kohsuke Imai, Teppei Okawa, Daisuke Tomizawa, Masatoshi Takagi, Michiko Kajiwara, Masayuki Nagasawa, Tomohiro Morio, and Shuki Mizutani. Fatal Outcome Due to Parainfluenza-3 Pneumonitis in a Patient with Atypical Complete DiGeorge Syndrome. The 4th JSH International Symposium 2013 in EHIME 2013.05 EHIME, Japan

Morio T. . Cord blood transplantation for primary immunodeficiency in Japan. . AsiaCORD2013. 2013.04 Kobe,Japan.

Takada H, Ishimura M, Imai K, Morio T, Kobayashi M, Nonoyama S, Hara O.. Endocrine complications in primary immunodeficiency diseases in Japan.. 第41回日本免疫学会総会・学術集会 2012.12 神戸

Takimoto T, Ishimura M, Takada H, Morio T, Hara T.. A Japanses female case of Wiskott Aldrich syndrome with skewed X-Chromoseme inactivation.. 第41回日本免疫学会総会・学術集会 2012.12 神戸

長澤正之、大川哲平、遠藤明史、満生紀子、青木由貴、小野敏明、磯田健志、富澤大輔、今井耕輔、高木正稔、梶原道子、森尾友宏、水谷修紀. . Thrombomodulin-alpha improves the coagulation disorder associated transplantation-related mortality after allogeneic SCT.. 第74回日本血液学会 2012.10.21 京都

Takagi M, Imai K, Nakagawa M, Morio T, Mizutani S. . The Research Front Line of Immune Thrombocytopenia Chronic immune thrombocytopenia as a disease with or without association of defined diseases in children. . 第74回日本血液学会学術集会 2012.10 京都

Endou A, Ookawa T, Tomizawa D, Imai K, Takagi M, Nagasawa M, Morio T, Mizutani S. . Acute myeloid leukemia with EWSR1 split signal.. 第74回日本血液学会学術集会 2012.10 京都

Morio T. . Primary Immunodeficiencies due the Defect in Signaling Molecules.. 2012 KSMCB Annual Meeting. 2012.10 Seoul, Korea.

Mitsuiki N, Oshim K, Imai K, Ohara O, Morio T, Mizutani S.. Genetic Analysis For 207 Cases With Primary Immunodeficiency (PID) Consulted to A Single Center Through PID Network in JAPAN (PIDJ) in 5 Years (2007-2011).. 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012). 2012.10 Florence, Italy.

Mitsuiki N, Oshima K, Imai K, Ohara O, Morio T, Mizutani S.. Genetic analysis for 207 cases with primary immunodeficiency (PID) consulted to a single center through PID network in Japan (PIDJ) in 5 years (2007-2011).. 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012). 2012.10 Florence, Italy.

Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, MC van Zelm, Morio T, Imai K, Nonoyama S.. Classification of common variable immunodeficiency by quantification of T cell receptor recombination excision circles (TREC) and Ig kappa-deleting recombination excision circles (KREC). . 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012). 2012.10 Florence, Italy.

Hirata O, Tsumura M, Mizoguchi Y, Okada S, Minegishi S, Morio T, Kobayashi M. . Gain-of-function mutations of STAT1 in Japanese patients with CMCD.. 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012). 2012.10 Florence, Italy.

Wada T, Muraoka M, Toma T, Shigemura T, Agematsu K, Moriuchi H, Ohara O, Morio T, Yachie A. Rapid detection of intracellular p47phox and p67phox by flow cytomery in patients with chronic granulomatous disease. . 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012). 2012.10 Florence, Italy.

Honma K, Imai K, Kamae C, Ishida H, Ito Y, Kojima S, Yokosuka T, Kanegane H, Morio T, Sasahara Y, Fujiwara T, Harigae H, Hashii Y, Ohara O, Nonoyama S.. Clinical features and immunological abnormalities of GATA2 deficiency in JAPAN. . 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012). 2012.10 Florence, Italy.

Isoda T, Takagi M, Morio T, Kawamoto H, Mizutani S.. Visualization of chromosomal translocation and early T-cell development failure in ATM deficiency.. 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012). 2012.10 Florence, Italy.

Hayase T, Morimoto A, Ikeda T, Katsube N, Kawahara Y, Fukuda T. Kasii Y, Morio T, Momoi M.. HLA-matched unrelated CBT without conditioning in a SCID patient with Artemis abnormality. . 第74回日本血液学会学術集会 2012.10 京都

Sato T, Kuramitsu M, Sato-Otsubo A, Yoshida K, Toki T, Terui K, Wang R, Kanno H, Morio T, Ohga S, Ohara A, Kitoh T, Kudo K, Kojima S, Ogawa S, Hamaguchi I,. Frequent mutations in the RPS17 gene in Japanese DBA Patients.. 第74回日本血液学会学術集会 2012.10 京都

Kumaki S, Sasahara Y, Kamachi Y, Muramatsu H, Morio T, Goi K, SugitaK, Urabe T, Takada H, Tsuchiya S, Hara T. . Long-term B cell function after unrelated CBT using a RIC regimen in patients with X-SCID.. 第74回日本血液学会学術集会 2012.10 京都

H. Takada, M. Ishimura, T. Doi, K. Imai, Y. Sasahara, H Kanegane, R. Nishikomori, T. Morio, T. Heike, M. Kobayashi, T. Ariga, S. Tsuchiya, S. Nonoyama, T. Miyawaki, T. Hara. Nation-wide survey of patients with primary immunodeficiency diseases in japan:2008. 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012). 2012.10 Florence, Italy.

Isoda T, Takagi M, Piao J, Nakagama S, Sato M, Masuda K, Ikawa T, Azuma M, Morio T, Kawamoto H, Mizutani S.. Immune defect and visualization of chromosome 14 breaks and translocations involving TCRa/d loci during early T-cell development lacking ATM. . 17th congress of the European Hematology Association (EHA). 2012.06 Amsterdam, Netherlands.

Takasawa K, Kashimada K, Ono M, Matsubara Y, Hijikata A, Katsumata N, Takagi M, Morio T, Ohara O, Mizutani S.. Two Novel Hsd3b2 Miss-Sense Mutations With Different Enzymatic Activity For Δ5 Steroids: Possible Cause For Elevated Levels Of 17-Hydroxyprogesterone (17-OHP) In 3β-Hydroxysteroid Dehydrogenase (3Β-HSD) Deficiency Patients.. ENDO 2012 (The Endocrine Society’s 94th Annual Meeting & Expo). 2012.06 Houston, Texas, USA.

Motoyoshi Y, Udagawa T, Chiga M, Yoshida Y, Fujimura Y, Nagasawa M, Morio T, Mizutani S, Nagata M. . A case of atypical hemolytic uremic syndrome successfully treated with anti-C5 antibody. Continuous Professional Development program of International Pediatric Nephrology Association.. Japan-Korea The 10th Pediatric Nephrology Seminar 2012. 2012.05 Tokyo, Japan.

Morio T.. An old and new regulator of ROS production in neutrophils. . Seminar of Brain Korea 21 Project for Functional Foods and Nutrigenomics. 2012.03 Seoul, Korea.

Isoda T, Takagi M, Piao J, Sato M, Masuda K, Ikawa T, Azuma M, Morio T, Kawamoto H, Mizutani S. Visualization of chromosomal translocation and early T-cell development failure in ATM deficiency.. Ataxia telangiectagia workshop. 2012.02 New Delhi, INDIA.

Isoda T, Takagi M, Piao J, Nakagama S, Sato M, Masuda K, Ikawa T, Azuma M, Morio T, Kawamoto H, Mizutani S.. T-Cell Development Failure At β-Selection Checkpoint and TCRα/δ Locus Break Formation Associated with Chromosome 14 Translocation in Ataxia-Telangiectagia Mutated Deficient Mice.. 53rd American society of hematology, annual meeting. 2011.12 San Diego, California, USA.

Kuramitsu M, Matsubara A, Morio T, Takagi M, Toki T, Terui K, Wang R, Kanno H, Ohga S, Ohara A, Masumi A, Momose H, Mizukami T, Takizawa K, Yamaguchi K, Ogawa S, Ito E, Hamaguchi I. Extensive gene deletions in Japanese patients with Diamond Blackfan anemia.. Extensive gene deletions in Japanese patients with Diamond Blackfan anemia. . 第73回日本血液学会学術集会 2011.10 名古屋

Nagasawa M, Okawa T, Endo A, Mitsuiki N, Aoki Y, Ono T, Isoda T, Tomizawa D, Takagi M, Morio T, Mizutani S, Kajiwara M, Ishiwata Y, Yasuhara M.. Retrospective PK/PD analysis of oral and intravenous busulfan in pediatric patient having SCT.. 第73回日本血液学会学術集会 2011.10 名古屋

Nagasawa M, Miyatake H, Hayakawa T, Hayashi Y, Katsumoto Y, Takagi M, Morio T, Ohmori S, Mizutani S. . Analysis of dielectricity and membrane proteins of erythrocytes in patient having allogenic SCT.. 第73回日本血液学会学術集会 2011.10 名古屋

Isoda T, Takagi M, Piao J, Masuda K, Ikawa T, Azuma M, Morio T, Kawamoto H, Mizutani S.. DN3 T-cell development failure in Ataxia telangiectagia (AT).. 第73回日本血液学会学術集会 2011.10 名古屋

Isoda T, Ford A, Tomizawa D, Frederik van Delft, David Gonzalez De Castro, Score J, Takagi M, Morio T, Greaves M, Mizutani S. . Transmission and Ingenious Clonal Evolution of Maternal Cancer Cells in the Infant. . PAS/ASPR (Pediatric Academic Societies and Asian Society for Pediatric Research) 2011. 2011.05 Denver, Colorado, USA.

Morio T. . Dissection of Common Variable immunodeficiency With Distinct Phenotype. . 2011 Pediatric Academic Societies &Asian Society for Pediatric Research Joint Meeting. 2011.04 Denver, Colorado, USA.

Imai K, Mitsui K, Kajiwara M, Tomizawa D, Nagasawa M, Kogawa K, Morio T, Nonoyama S.. Retrospective analysis of stem cell transplantations for X-linked hyper-IgM syndrome. . 37th Annual Meeting of the European Group for Blood and Marrow Transplantation. 2011.04 Paris, France.

Morio T.. Unrelated umbilical cord blood transplantation for patients with primary immunodeficiency in Japan. . The 52nd ASH Annual Meeting. 2010.12 Orlando, Florida, USA.

Kuramitsu M, Morio T, Takagi M, Toki T, Terui K, RuNan Wang, , Masumi A, Mizukami T, Momose H, Takizawa K, Yamaguchi K, Ito E, Hamaguchi I. . New Determination Method for Extensive Gene Deletions In Diamond-Blackfan Anemia. . The 52nd ASH Annual Meeting. 2010.12 Orlando, Florida, USA.

Morio T. . Btk Controls ROS Production and Apoptosis in Human Neutrophils.. XIVth meeting of the European Society for Immunodeficiencies. 2010.10 Isutanbul, Republic of Turkey.

Erika Asai, Taizo Wada, Yasuhisa Sakakibara, Tomoko Toma, Takashi Shimizu, Kohsuke Imai, Shigeyuki Nonoyama, Tomohiro Morio, Yoshiro Kamachi, Osamu Ohara, Akihiro Yachie. Analysis of mutations and recombination activity in patients with rag 1/2 deficiency. XIVth meeting of the European Society for Immunodeficiencies. 2010.10 Isutanbul, Republic of Turkey.

Morio T. . 臍帯血移植における免疫モニタリングとT細胞免疫療法. 第2回　韓国－日本　臍帯血移植シンポジウム 2010.09

Kuramitsu M, Morio T, Takagi M, Ozeki M, Masumi A, Mizukami T, Momose H, Takizawa K, Ito E, Yamaguchi K, Hamaguchi I. . A novel method to analyze genomic copy number of Diamond Blacfan anemia responsible gene.. 第72回日本血液学会学術集会 2010.09 横浜

Morio T. . PP-102-32 - Impaired CD4 and CD8 Effector Function and Decreased Memory T-cell Populations in ICOS-deficient Patients.. 14th International Congress of Immunology 2010. 2010.08 Kobe, Japan.

Okamoto K, Iwai Y, Oh-hora M, Yamamoto M, Morio T, Jetten A M, Akira S, Muta T, Takayanag H.. WS/PP-014-02 - IκBζ is required for the transcriptional program in Th17 development.. 14th International Congress of Immunology 2010. 2010.08 Kobe in Japan.

Motoyoshi Y, Endo A, Takagi M, Nagasawa M, Morio T, Mizutani S, Nagata M.. Thrombotic microangiopathy in allogenic bone marrow transplantation in acute leukemia.. The 15th Congress of the International Pediatric Nephrology Association. 2010.08 New York.

Honda F, Ikeda Y, Takahashi1 N, Lee S, Mizutani S, Morio T.. WS/PP-034-04 - Btk controls ROS production and apoptosis in human neutrophil.. 14th International Congress of Immunology 2010. 2010.08 Kobe in Japan.

Shin M J, Shim J, Lee J, Chae W, Lee H, Morio T, Park J H, Chang E, Lee S.. PP-059-37 - Functional analysis of Fas-mediated activation signaling pathways in T cells.. 14th International Congress of Immunology 2010. 2010.08 Kobe in Japan.

Morio T. . Common variable immunodeficiency (CVID): Molecular basis of immunedysfunction: . The 2nd Symposium for PID in Asia. 2010.02 Chiba, Japan.

Takagi M, Unno J, Kiyono T, Honda F, Teraoka H, Maeda D, Masutani M, Morio T, Mizutani S.. LA DNA Double-Strand Break Formation Induced by Replication Arrest Depend On Artemis. . 51th American Society of Hematology Annual meeting 2009. 2009.12 New Orleans.

Isoda T, Ford A, Tomizawa D, van Delft FW, Gonzalez de Castro D, Mitsuiki N, Score J, Taki T, Morio T, Takagi M, Saji H, Mizutani S, Greaves M.. Loss of non-inherited maternal MHC and materno-fetal transmission of p190 type BCR-ABL leukemia.. 51st Annual Meeting of the American Society of Hematology. 2009.12 New Orleans, USA

磯田健志、高木正稔、長澤正之、森尾友宏、滝 智彦、谷脇雅史、水谷修紀. Materno-fetal transmission and loss of non-inherited maternal MHC in p190 type BCR-ABL leukemia. . 第68回日本癌学会 2009.10.02 横浜

Isoda T, Mitsuiki N, Aoki Y, Tomizawa D, Takagi M, Nagasawa M, Morio T, Ochiai N, Taki T, Taniwaki M, Saji H, Mizutani S.. Loss of NIMA as a possible role of materno-fetal transmission of p190 type BCR-ABL leukemia.. 第71回日本血液学会 2009.10 京都

Aoki Y, Mitsuiki N, Endo A, Ono T, Takagi M, Kajiwara M, Nagasawa M, Morio T, Mizutani S, Imadome K. . A case of SLE 10years following cord blood transplantation for JMML with mixed chimerism. . 第71回日本血液学会 2009.10 京都

Morio T. . ROS induced DNA damage response. Symposium: “ROS and NO”. The 46th Meeting of Korean Society of Biochemistry and Molecular Biology. 2009.05 Seoul, Korea.

Tanaka E,Mukai J, Morio T, Mizutani S.. A case of Wiskott-Aldrich syndrome with purpura nephritis: Improvement in renal pathology after immunosuppressants and bone marrow transplantation.. 7th Japan-Korean pediatric nephrology seminar. 2009.04 Kyunggi-Do, Korea.

Isoda T, Mitsuiki N, Aoki Y, Tomizawa D, Takagi M, Kajiwara M, Nagasawa M, Ochiai H, Taki T, Morio T, Mizutani S. An eleven-month-old girl who developed malignant lymphoma derived from maternal BCR-ABL positive clone.. 第11回乳児白血病講演会 2008.04.19 東京

Morio T. . Ataxia telangiectasia: Involvement of ATM in immunodeficiency and leukemogenesis.. International symposium on Recent Advances in Cell Function and Defense Mechanisim. 2008.04 Seoul, Korea.

Morio T. . Immunodefiencies with impaired DNA damage response.. Recent Advances in DNA Damage Response. 2008.04

Morio T. . Ataxia-Telangiectasia in Japan:Phenotypic variations in affected siblings with Ataxia-Telangiectasia. . Ataxia-Telangiectasia Workshop 2008. 2008.04 Otsu, Shiga

Nakamura K, Morio T, Mizutani S,. Identification of Novel Mutation in Japanese Patients with Ataxia Telangiectasia ; Absence of Founder Mutations.. Ataxia- TelangiectasiaWorkshop 2008. 2008.04 Otsu, Shiga,

Unno J, Takagi M, Watanabe F, Sato M, Takahashi N, Morio T, Teraoka H, Mizutani S. . Generation of DNA double-stranded breaks in stalled DNA replication forks: an essential step initiated by Artemis toward a second wave of DNA damage response and ATM activation.. Ataxia-Telangiectasia Workshop 2008. 2008.04 Otsu, Shiga,

Watanabe F, Morio T, Ogigami N, Kiyono T, Delia D, Mizutani S.. Stability of Artemis protein is regulated by Hsp72. . Ataxia-Telangiectasia Workshop 2008. 2008.04 Otsu, Shiga,

Mizutani S, Unno J, Watanabe F, Takagi M ,Morio T, Teraoka H, Domenico D.. Regulation of Artemis/ATM-related DNA damage response network.. Ataxia-Telangiectasia Workshop 2008. 2008.04 Otsu, Shiga,

Morio T. . Strategy to combat opportunistic infections after umbilical cord stem cell transplantation.. The 5th Annual International Umbilical Cord Blood Transplantation Symposium. 2007.05 California, USA.

Morio T. . Immunity & Nutrition, Its importance in post-transplantation period.. Symposium on Infection, Immunity and Nutrition. 2007.03 Seoul, Korea

Morio T. . Strategy to combat opportunistic infections aft Seoul, Korea.er stem cell transplantation. . The 11th Congress of Asian-Pacific Bone Marrow Transplantation. 2006.10 Nagoya, Japan.

Morio T. . Cell cycle checkpoint. DNA repair system. and Carcinogenesis. . International Symposium on Gastrointestinal Disorders: Molecular Mechanisms of Pathogenesis. in Commemoration of 120th Anniversary of Yonsei Univeisity. College of Medicine. 2005.06 Seoul, Korea.

Morio T. . Activated T-Cell Transfusion for Opportunistic Infection in Immunodeficient Patients and for Post-transplant Infections.. The 2nd International Symposium "New Challenges in the Post Genome Era 2003" 2003.11 Seoul, Korea.

Morio T. . Activated T-Cell transfusion for opportunistic infection in immunodeficient patients and for post-transplant infections.. The 10th Meeting of Transplantation/ Immunoregulation 21. 2003.11 Tokyo, Japan.

Morio T. . Activated T-Cell Transfusion for Opportunistic Infection in Immunodeficient Patients.. Nihon University School of Medicine Symposium “Cell Biology of Virus Infection” 2003.10 Tokyo, Japan.

Morio T. . Molecular Basis of Primary Immunodeficiency.. The 46th Meeting of Korean Association of Immunobiologists 2003.04 Seoul, Korea.

Morio T. . Ku70/80, A DNA Repair Protein Involved in Cellular Survival, Transformation, and Death.. 2002 International Symposium on Exocrine Pancreas 2002.08 Seoul, Korea.

Morio T. . Proteomics approach for elucidating signal transduction pathway. Symposium: "Genomics and Proteomics in Pharmacology" . Annual Meeting of Korean Society of Pharmacology 2001.04 Seoul, Korea.

Morio T. . Proteomics approach for elucidating signal transduction pathway. Symposium: "Genomics and Proteomics in Pharmacology". Annual Meeting of Korean Society of Pharmacology 2001.04 Seoul, Korea.

Morio T. . Identification of CD40-associated protein by protein microsequencing and ESI-MS.. In Proteomics and Genomics in Biotechnology, The 8th Bioproduct Research Center International Symposium. 2000.06 Seoul, Korea.