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Sho Hashiguchi, Dan Tomomasa, Takuro Nishikawa, Shuji Ishikawa, Harumi Akaike, Hidehiko Kobae, Tsuyoshi Shirai, Toshikage Nagao, Kosuke Noma, Satoshi Okada, Kazuhiro Kamuro, Yasuhiro Okamoto, Hirokazu Kanegane. 18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency. J Clin Immunol. 2024.06; 44 (7): 154. ( PubMed, DOI )

Rintaro Ono, Kenichi Sakamoto, Ko Kudo, Aki Sato, Kazuko Kudo, Hisanori Fujino, Yuta Kawahara, Hiroya Hashimoto, Takehiko Doi, Ryu Yanagisawa, Toyotaka Kawamata, Osamu Miyazaki, Atsuko Nakazawa, Yasunori Ota, Hirokazu Kanegane, Yozo Nakazawa, Keizo Horibe, Akiko M Saito, Atsushi Manabe, Kensuke Usuki, Hitoshi Kiyoi, Akira Morimoto, Arinobu Tojo, Yoko Shioda. Phase II study in children and adults under 40 years with newly diagnosed Langerhans cell histiocytosis: protocol for an LCH-19-MSMFB clinical trial in Japan. BMJ Open. 2024.06; 14 (6): e084159. ( PubMed, DOI )

Takayuki Miyamoto, Kazushi Izawa, Sho Masui, Atsue Yamazaki, Yuichi Yamasaki, Tadashi Matsubayashi, Mayuka Shiraki, Hidenori Ohnishi, Junko Yasumura, Tomohiro Kawabe, Takako Miyamae, Tomoyo Matsubara, Naoya Arakawa, Takashi Ishige, Takumi Takizawa, Asami Shimbo, Masaki Shimizu, Naoki Kimura, Yuichi Maeda, Yuta Maruyama, Tomonari Shigemura, Junichi Furuta, Satoshi Sato, Hiroshi Tanaka, Miharu Izumikawa, Masahiro Yamamura, Toshio Hasegawa, Hiroshi Kaneko, Yasuo Nakagishi, Naoko Nakano, Yasunori Iida, Tamaki Nakamura, Hiroyuki Wakiguchi, Takayuki Hoshina, Toshinao Kawai, Kosaku Murakami, Shuji Akizuki, Akio Morinobu, Koichiro Ohmura, Katsuhide Eguchi, Motoshi Sonoda, Masataka Ishimura, Kenji Furuno, Momoko Kashiwado, Masaaki Mori, Kimito Kawahata, Koremasa Hayama, Kumiko Shimoyama, Natsuko Sasaki, Taisuke Ito, Hiroaki Umebayashi, Tae Omori, Seiko Nakamichi, Tomotsune Dohmoto, Yasuyuki Hasegawa, Hisashi Kawashima, Shojiro Watanabe, Yuichiro Taguchi, Haruna Nakaseko, Naomi Iwata, Hiroki Kohno, Taiki Ando, Yasuhiko Ito, Yuko Kataoka, Takako Saeki, Utako Kaneko, Ayako Murase, Seira Hattori, Tomo Nozawa, Kenichi Nishimura, Reiji Nakano, Misa Watanabe, Masato Yashiro, Tomonori Nakamura, Toshihiko Komai, Kentaro Kato, Yoshitaka Honda, Eitaro Hiejima, Atsushi Yonezawa, Kazuhisa Bessho, Satoshi Okada, Osamu Ohara, Junko Takita, Takahiro Yasumi, Ryuta Nishikomori, . Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey. Arthritis Rheumatol. 2024.06; 76 (6): 949-962. ( PubMed, DOI )

Yuichi Nagamatsu, Takeshi Isoda, Motoki Inaji, Jun Oyama, Daiki Niizato, Dan Tomomasa, Noriko Mitsuiki, Motoi Yamashita, Takahiro Kamiya, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi. Intracranial residual lesions following early intensification in a patient with T-cell acute lymphoblastic leukemia: a case report. BMC Pediatr. 2024.05; 24 (1): 304. ( PubMed, DOI )

Satoshi Miyamoto, Daiki Niizato, Dan Tomomasa, Akira Nishimura, Akihiro Hoshino, Takahiro Kamiya, Takeshi Isoda, Masatoshi Takagi, Michiko Kajiwara, Shohei Azumi, Shinsuke Hirabayashi, Kenichi Sakamoto, Kenji Kishimoto, Takako Miyamura, Katsutsugu Umeda, Ayana Hirose, Dai Keino, Masakatsu Yanagimachi, Kaori Kanda, Yuta Sakai, Yasuhiro Ikawa, Kenichiro Watanabe, Keisuke Tanaka, Takehiko Mori, Tatsuo Ichinohe, Hirotoshi Sakaguchi, Tomohiro Morio, Hirokazu Kanegane. Allogeneic Hematopoietic cell Transplantation Using Alemtuzumab in Asian Patients with Inborn Errors of Immunity. J Clin Immunol. 2024.05; 44 (6): 126. ( PubMed, DOI )

Qin Zhao, Qian Zhao, Xuemei Tang, Yunfei An, Zhiyong Zhang, Dan Tomomasa, Atsushi Hijikata, Xi Yang, Hirokazu Kanegane, Xiaodong Zhao. Atypical familial hemophagocytic lymphohistiocytosis type 3 in children: A report of cases and literature review. Pediatr Allergy Immunol. 2024.05; 35 (5): e14136. ( 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 )

Masafumi Yamaguchi, Yukihiro Sera, Hanae Toga-Yamaguchi, Hirokazu Kanegane, Yusuke Iguchi, Kingo Fujimura. Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth. Int J Hematol. 2024.04; 119 (4): 383-391. ( PubMed, DOI )

Shoichiro Tateishi, Shoichi Shimizu, Kunihiko Moriya, Hirokazu Kanegane, Kohsuke Imai. A deep intronic BTK variant underlies X-linked agammaglobulinemia. J Clin Immunol. 2024.04; 44 (4): 89. ( PubMed, DOI )

Wenguang Jia, Xiaoqin Chen, Jianming Luo, Vikram Sumbly, Hirokazu Kanegane, Yunyan He. Case report: emapalumab treatment for a pediatric Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) patient with cytokine storm enabling allogeneic hematopoietic cell transplantation. Transl Pediatr. 2024.04; 13 (4): 663-672. ( PubMed, DOI )

Hirokazu Kanegane, Akifumi Endo, Satoshi Okada, Hidenori Ohnishi, Masataka Ishimura, Ryuta Nishikomori, Kohsuke Imai, Shigeaki Nonoyama, Hideki Muramatsu, Taizo Wada, Atsushi Kuga, Ko Sakamoto, Sharon Russo-Schwarzbaum, Liang-Hui Chu, Barbara McCoy, Zhaoyang Li, Leman Yel. Pharmacokinetics, safety, and efficacy of 20% subcutaneous immunoglobulin (Ig20Gly) administered weekly or every 2 weeks in Japanese patients with primary immunodeficiency diseases: a phase 3, open-label study. Immunother Adv. 2024.03; 4 (1): ltae001. ( PubMed, DOI )

Keisuke Ogasawara, Makoto Ono, Keita Tamanuki, Ryosuke Wakatsuki, Kento Inoue, Yoshinori Tateishi, Rentaro Oda, Shogo Shirane, Hiraku Funakoshi, Hirokazu Kanegane, Yoshiho Hatai. Respiratory Symptoms are the First Presentation of Liver Abscess. Pediatr Infect Dis J. 2024.02; 43 (2): e71-e73. ( PubMed, DOI )

T Tsubata, N Umezawa, T Yasumi, H Kanegane, S Yasuda. Impaired development of B cells with PRF1 variants in an adult Scand J Rheumatol. 2024.01; 53 (1): 74-76. ( PubMed, DOI )

Shogo Wada, Takeshi Namiki, Aoi Ebata, Takuya Takeichi, Masashi Akiyama, Masafumi Yamada, Atsushi Hijikata, Yutaka Shimomura, Hirokazu Kanegane, Naoko Okiyama. Generalized pustular psoriasis that developed in a patient with an NFKB2 variant. J Dtsch Dermatol Ges. 2024.01; 22 (1): 118-120. ( PubMed, DOI )

Hiroyuki Baba, Naoki Kimura, Hirokazu Kanegane, Fuyuki Miya, Kenjiro Kosaki, Tomohiro Morio, Ryuji Koike. GATA2 deficiency of a novel missense variant with multiorgan inflammation. Rheumatology (Oxford). 2024.01; ( 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 )

Holm H Uhlig, Claire Booth, Judy Cho, Marla Dubinsky, Anne M Griffiths, Bodo Grimbacher, Sophie Hambleton, Ying Huang, Kelsey Jones, Jochen Kammermeier, Hirokazu Kanegane, Sibylle Koletzko, Daniel Kotlarz, Christoph Klein, Michael J Lenardo, Bernice Lo, Dermot P B McGovern, Ahmet Özen, Lissy de Ridder, Frank Ruemmele, Dror S Shouval, Scott B Snapper, Simon P Travis, Dan Turner, David C Wilson, Aleixo M Muise. Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards. Nat Rev Gastroenterol Hepatol. 2023.12; 20 (12): 810-828. ( PubMed, DOI )

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

Aidé Tamara Staines-Boone, Pandiarajan Vignesh, Miyuki Tsumura, Germán de la Garza Fernández, Reva Tyagi, Amit Rawat, Jhumki Das, Dan Tomomasa, Takaki Asano, Atsushi Hijikata, Yuridia Salazar-Gálvez, Hirokazu Kanegane, Satoshi Okada, Saul O Lugo Reyes. Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function. J Clin Immunol. 2023.12; 44 (1): 20. ( 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 )

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;

Rintaro Ono, Kenichi Sakamoto, Takehiko Doi, Ryu Yanagisawa, Akira Morimoto, Hirokazu Kanegane, Yozo Nakazawa, Yoko Shioda. Dexamethasone palmitate as an etoposide-free treatment for children with hemophagocytic lymphohistiocytosis after hematopoietic cell transplantation. Bone Marrow Transplant. 2023.11; 58 (11): 1286-1288. ( PubMed, DOI )

Daisuke Kurita, Norio Shiba, Takashi Ohya, Ayako Murase, Yuko Shimosato, Masahiro Yoshitomi, Seira Hattori, Koji Sasaki, Kenichi Nishimura, Shin-Ichi Tsujimoto, Masanobu Takeuchi, Reo Tanoshima, Hirokazu Kanegane, Norihiko Kitagawa, Shuichi Ito. Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features. J Clin Immunol. 2023.11; 43 (8): 1992-1996. ( PubMed, DOI )

Asuka Kono, Manabu Wakamatsu, Yoshihiro Umezawa, Hideki Muramatsu, Hiroki Fujiwara, Dan Tomomasa, Kento Inoue, Keiichiro Hattori, Tetsuo Mitsui, Hidetoshi Takada, Yoshiyuki Minegishi, Yoshiyuki Takahashi, Masahide Yamamoto, Takehiko Mori, Hirokazu Kanegane. Successful treatment of DOCK8 deficiency by allogeneic hematopoietic cell transplantation from alternative donors. Int J Hematol. 2023.10; 118 (4): 519-525. ( PubMed, DOI )

Nishiyama Y, Mizuki K, Hoshino A, Hirabayashi S, Magara T, Ashiarai M, Miyamoto S, Ono R, Takahashi S, Hosoya Y, Niizato D, Yoshihara H, Nishimura A, Mitsuiki N, Kamiya T, Takasawa K, Kajiwara M, Kanegane H, Morio T, Manabe A, Isoda T, Hasegawa D, Takagi M. Hematopoietic cell transplantation for hematological malignancies in Bloom syndrome. Pediatric blood & cancer. 2023.08; e30655. ( PubMed, DOI )

Akira Morimoto, Yoko Shioda, Kazuko Kudo, Hirokazu Kanegane, Toshihiko Imamura, Katsuyoshi Koh, Yoshiyuki Kosaka, Yuki Yuza, Atsuko Nakazawa, Akiko M Saito, Tomoyuki Watanabe, Yozo Nakazawa. Intensification of treatment with vinca alkaloid does not improve outcomes in pediatric patients with Langerhans cell histiocytosis: results from the JPLSG LCH-12 study. Int J Hematol. 2023.07; 118 (1): 107-118. ( 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 )

Ryosuke Wakatsuki, Yoshiho Hatai, Kentaro Okamoto, Shuya Kaneko, Asami Shimbo, Hitoshi Irabu, Masaki Shimizu, Hirokazu Kanegane, Makoto Ono. An infant with A20 haploinsufficiency presenting with periodic fever syndrome: A case report. Int J Rheum Dis. 2023.05; 26 (5): 973-976. ( PubMed, DOI )

Kento Inoue, Satoshi Miyamoto, Dan Tomomasa, Eriko Adachi, Shohei Azumi, Yasuo Horikoshi, Takashi Ishihara, Shinya Osone, Yuta Kawahara, Ko Kudo, Zenichiro Kato, Hidenori Ohnishi, Kenichi Kashimada, Kohsuke Imai, Osamu Ohara, Menno C van Zelm, Morton J Cowan, Tomohiro Morio, Hirokazu Kanegane. Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan. J Clin Immunol. 2023.04; 43 (3): 585-594. ( PubMed, DOI )

Dan Tomomasa, Motoi Yamashita, Takahiro Kamiya, Tomohiro Morio, Hirokazu Kanegane. Maternal Gonosomal Mosaicism Causes XIAP Deficiency. J Clin Immunol. 2023.04; 43 (3): 525-527. ( PubMed, DOI )

Kana Unuma, Dan Tomomasa, Kosuke Noma, Kouhei Yamamoto, Taka-Aki Matsuyama, Yohsuke Makino, Atsushi Hijikata, Shuheng Wen, Tsutomu Ogata, Nobuhiko Okamoto, Satoshi Okada, Kenichi Ohashi, Koichi Uemura, Hirokazu Kanegane. Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality. Front Immunol. 2023.04; 14 1121059. ( PubMed, DOI )

Fumiaki Sakura, Kosuke Noma, Takaki Asano, Kay Tanita, Etsushi Toyofuku, Kentaro Kato, Miyuki Tsumura, Hiroshi Nihira, Kazushi Izawa, Kanako Mitsui-Sekinaka, Ryo Konno, Yusuke Kawashima, Yoko Mizoguchi, Shuhei Karakawa, Seiichi Hayakawa, Hiroshi Kawaguchi, Kohsuke Imai, Shigeaki Nonoyama, Takahiro Yasumi, Hidenori Ohnishi, Hirokazu Kanegane, Osamu Ohara, Satoshi Okada. A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis. PNAS Nexus. 2023.04; 2 (4): pgad104. ( PubMed, DOI )

Dan Tomomasa, Takeshi Isoda, Noriko Mitsuiki, Kento Inoue, Akira Nishimura, Kazuhiro Uda, Toru Uchiyama, Motoi Yamashita, Takahiro Kamiya, Akifumi Endo, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Morton J Cowan, Tomohiro Morio, Hirokazu Kanegane. Successful TCRαβ/CD19-Depleted Hematopoietic Cell Transplantation for a Patient With Artemis Deficiency. J Pediatr Hematol Oncol. 2023.03; 45 (2): e285-e289. ( PubMed, DOI )

Dirk Roos, Karin van Leeuwen, Manisha Madkaikar, Priyanka M Kambli, Maya Gupta, Vikram Mathews, Amit Rawat, Douglas B Kuhns, Steven M Holland, Martin de Boer, Hirokazu Kanegane, Nima Parvaneh, Myriam Lorenz, Klaus Schwarz, Christoph Klein, Roya Sherkat, Mahbube Jafari, Baruch Wolach, Johan T den Dunnen, Taco W Kuijpers, M Yavuz Köker. Hematologically important mutations: Leukocyte adhesion deficiency (second update). Blood Cells Mol Dis. 2023.03; 99 102726. ( PubMed, DOI )

Rintaro Ono, Miyuki Tsumura, Saho Shima, Yusuke Matsuda, Kenji Gotoh, Yurina Miyata, Yuko Yoto, Dan Tomomasa, Takanori Utsumi, Hidenori Ohnishi, Zenichiro Kato, Naruhiko Ishiwada, Aki Ishikawa, Taizo Wada, Hisashi Uhara, Ryuta Nishikomori, Daisuke Hasegawa, Satoshi Okada, Hirokazu Kanegane. Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases. J Clin Immunol. 2023.02; 43 (2): 466-478. ( PubMed, DOI )

Hirokazu Kanegane. Patient-derived induced pluripotent stem cells underlie the pathogenesis of the diseases. Pediatr Int. 2023.01; 65 (1): e15463. ( PubMed, DOI )

Takeru Kanazawa, Tatsuyuki Ishida, Madoka Shirai, Daiki Niizato, Takeshi Isoda, Yoshifusa Abe, Hirokazu Kanegane. Wiskott-Aldrich syndrome with normal-sized platelets. Pediatr Int. 2023.01; 65 (1): e15453. ( PubMed, DOI )

Hirokazu Kanegane, Atsuko Noguchi, Yuki Yamada, Takahiro Yasumi. Rare diseases presenting with hemophagocytic lymphohistiocytosis. Pediatr Int. 2023; 65 (1): e15516. ( PubMed, DOI )

Hirokazu Kobushi, Katsutsugu Umeda, Eitaro Hiejima, Kentaro Kato, Mayumi Sugimoto, Hirokazu Kanegane, Junko Takita. Alemtuzumab-based reduced-intensity conditioning for XIAP deficiency. Pediatr Int. 2023; 65 (1): e15576. ( PubMed, DOI )

Hirokazu Kanegane, Masataka Ishimura, Toshinao Kawai, Satoshi Okada, Nobuaki Okamatsu, Madoka Go, Shinichi Noto. Patient-reported outcomes in patients with primary immunodeficiency diseases in Japan: baseline results from a prospective observational study. Front Immunol. 2023; 14 1244250. ( PubMed, DOI )

Sara Konishi, Rintaro Ono, Miyuki Tanaka, Ken-Ichi Imadome, Yozo Nakazawa, Hirokazu Kanegane, Daisuke Hasegawa. Cytokine-based disease monitoring in refractory HLH with primary EBV infection. Pediatr Int. 2023; 65 (1): e15590. ( PubMed, DOI )

Christoph B Geier, Maryssa Ellison, Rachel Cruz, Sumit Pawar, Alexander Leiss-Piller, Katarina Zmajkovicova, Shannon M McNulty, Melis Yilmaz, Martin Oman Evans, Sumai Gordon, Boglarka Ujhazi, Ivana Wiest, Hassan Abolhassani, Asghar Aghamohammadi, Sara Barmettler, Saleh Bhar, Anastasia Bondarenko, Audrey Anna Bolyard, David Buchbinder, Michaela Cada, Mirta Cavieres, James A Connelly, David C Dale, Ekaterina Deordieva, Morna J Dorsey, Simon B Drysdale, Stephan Ehl, Reem Elfeky, Francesca Fioredda, Frank Firkin, Elizabeth Förster-Waldl, Bob Geng, Vera Goda, Luis Gonzalez-Granado, Eyal Grunebaum, Elzbieta Grzesk, Sarah E Henrickson, Anna Hilfanova, Mitsuteru Hiwatari, Chihaya Imai, Winnie Ip, Soma Jyonouchi, Hirokazu Kanegane, Yuta Kawahara, Amer M Khojah, Vy Hong-Diep Kim, Marina Kojić, Sylwia Kołtan, Gergely Krivan, Daman Langguth, Yu-Lung Lau, Daniel Leung, Maurizio Miano, Irina Mersyanova, Talal Mousallem, Mica Muskat, Flavio A Naoum, Suzie A Noronha, Monia Ouederni, Shuichi Ozono, G Wendell Richmond, Inga Sakovich, Ulrich Salzer, Catharina Schuetz, Filiz Odabasi Seeborg, Svetlana O Sharapova, Katja Sockel, Alla Volokha, Malte von Bonin, Klaus Warnatz, Oliver Wegehaupt, Geoffrey A Weinberg, Ke-Juin Wong, Austen Worth, Huang Yu, Yulia Zharankova, Xiaodong Zhao, Lisa Devlin, Adriana Badarau, Krisztian Csomos, Marton Keszei, Joao Pereira, Arthur G Taveras, Sarah L Beaussant-Cohen, Mei-Sing Ong, Anna Shcherbina, Jolan E Walter. Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients. J Clin Immunol. 2022.11; 42 (8): 1748-1765. ( PubMed, DOI )

Daiki Niizato, Takeshi Isoda, Noriko Mitsuiki, Shuya Kaneko, Dan Tomomasa, Takahiro Kamiya, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Masaki Shimizu, Tomohiro Morio, Hirokazu Kanegane. Case report: Optimized ruxolitinib-based therapy in an infant with familial hemophagocytic lymphohistiocytosis type 3. Front Immunol. 2022.11; 13 977463. ( 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, Osamu Ohara, Junko Tanaka, Tomohiro Morio, Satoshi Okada. Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19. J Clin Immunol. 2022.10; 42 (7): 1360-1370. ( PubMed, DOI )

Satoshi Miyamoto, Takasuke Ebato, Eri Watanabe, Tomohiro Morio, Hirokazu Kanegane. B-Cell Immune Reconstitution with Mixed Chimerism After Hematopoietic Cell Transplantation in a Patient with Severe Combined Immunodeficiency. J Clin Immunol. 2022.10; 42 (7): 1392-1395. ( PubMed, DOI )

Aaqib Zaffar Banday, Anit Kaur, Tadayuki Akagi, Dharmagat Bhattarai, Masahiro Muraoka, Diksha Dev, Jhumki Das, Man Updesh Singh Sachdeva, Indrani Karmakar, Kanika Arora, Gurjit Kaur, Vignesh Pandiarajan, Ankur Kumar Jindal, Taizo Wada, H Phillip Koeffler, Deepti Suri, Jasmina Ahluwalia, Hirokazu Kanegane, Prateek Bhatia, Amit Rawat, Surjit Singh. A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia. J Clin Immunol. 2022.10; 42 (7): 1434-1450. ( PubMed, DOI )

Motoi Yamashita, Shiori Eguchi, Dan Tomomasa, Takahiro Kamiya, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Hanako Funakoshi, Yuki Mizuno, Kentaro Okamoto, Tuan Minh Nguyen, Hidetoshi Takada, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane. Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I. Front Immunol. 2022.10; 13 1020362. ( PubMed, DOI )

Yuya Muramoto, Hiroshi Nihira, Masahiro Shiokawa, Kazushi Izawa, Eitaro Hiejima, Hiroshi Seno, Japan Pediatric Inflammatory Bowel Disease Working Group. Anti-Integrin αvβ6 Antibody as a Diagnostic Marker for Pediatric Patients With Ulcerative Colitis. Gastroenterology. 2022.10; 163 (4): 1094-1097.e14. ( PubMed, DOI )

Rintaro Ono, Kenichi Sakamoto, Takehiko Doi, Ryu Yanagisawa, Akihiro Tamura, Hiroya Hashimoto, Hirokazu Kanegane, Eiichi Ishii, Yozo Nakazawa, Yoko Shioda, . A retrospective survey of patients who discontinued participation in the JPLSG HLH-2004 clinical trial. Int J Hematol. 2022.09; 116 (3): 434-441. ( PubMed, DOI )

Tomomasa D, Hiejima E, Miyamoto T, Tanita K, Matsuoka M, Niizato D, Mitsuiki N, Isoda T, Yasumi T, van Zelm MC, Morio T, Kanegane H. Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3. Clin Immunol. 2022.08; 242 109104. ( PubMed, DOI )

Ko Kudo, Tsutomu Toki, Rika Kanezaki, Tatsuhiko Tanaka, Takuya Kamio, Tomohiko Sato, Shinya Sasaki, Masaru Imamura, Chihaya Imai, Kumiko Ando, Harumi Kakuda, Takehiko Doi, Hiroshi Kawaguchi, Masahiro Irie, Yoji Sasahara, Akihiro Tamura, Daiichiro Hasegawa, Yosuke Itakura, Kenichiro Watanabe, Kenichi Sakamoto, Yoko Shioda, Motohiro Kato, Kazuko Kudo, Reiji Fukano, Atsushi Sato, Hiroshi Yagasaki, Hirokazu Kanegane, Itaru Kato, Katsutsugu Umeda, Souichi Adachi, Tatsuki Kataoka, Akira Kurose, Atsuko Nakazawa, Kiminori Terui, Etsuro Ito. V600E-positive cells as molecular markers of bone marrow disease in pediatric Langerhans cell histiocytosis. Haematologica. 2022.06; 107 (7): 1719-1725. ( PubMed, DOI )

Yamaguchi Y, Takasawa K, Irabu H, Hiratoko K, Ichigi Y, Hirata K, Tamura Y, Murakoshi M, Yamashita M, Nakatani H, Shimoda M, Ishii T, Udagawa T, Shimizu M, Kanegane H, Morio T. Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child. Journal of infection and chemotherapy. 2022.06; 28 (6): 814-818. ( PubMed, DOI )

Intan Hakimah Ismail, Hirokazu Kanegane, Xiaodong Zhao. Editorial: Creating Awareness for Primary Immunodeficiencies in the Southeast and East Asia Regions. Front Immunol. 2022.05; 13 920819. ( PubMed, DOI )

Kyohei Isshiki, Takahiro Kamiya, Akifumi Endo, Kentaro Okamoto, Tomoo Osumi, Toshinao Kawai, Katsuhiro Arai, Daisuke Tomizawa, Kazuo Ohtsuka, Masakazu Nagahori, Kohsuke Imai, Motohiro Kato, Hirokazu Kanegane. Vedolizumab therapy for pediatric steroid-refractory gastrointestinal acute graft-versus-host disease. Int J Hematol. 2022.04; 115 (4): 590-594. ( 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. 2022.04; 237 108993. ( PubMed, DOI )

Zineb Sbihi, Kay Tanita, Camille Bachelet, Christine Bole, Fabienne Jabot-Hanin, Frederic Tores, Marc Le Loch, Radi Khodr, Akihiro Hoshino, Christelle Lenoir, Matias Oleastro, Mariana Villa, Lucia Spossito, Emma Prieto, Silvia Danielian, Erika Brunet, Capucine Picard, Takashi Taga, Shimaa Said Mohamed Ali Abdrabou, Takeshi Isoda, Masafumi Yamada, Alejandro Palma, Hirokazu Kanegane, Sylvain Latour. Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence. J Clin Immunol. 2022.04; 42 (3): 559-571. ( 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 )

Hepei Yuan, Momoko Nishikori, Chiyoko Ueda, Masakazu Fujimoto, Takahiro Yasumi, Yasuyuki Otsuka, Toshio Kitawaki, Masahiro Hirata, Hironori Haga, Hirokazu Kanegane, Akifumi Takaori-Kondo. A sporadic case of CTLA4 haploinsufficiency manifesting as Epstein-Barr virus-positive diffuse large B-cell lymphoma. J Clin Exp Hematop. 2022.03; 62 (1): 52-57. ( 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 )

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 )

Hikaru Minagawa, Takako Miyamura, Yoshiko Hashii, Hirokazu Kanegane, Keiichi Ozono. Skeletal dysplasia in adenosine deaminase deficiency. Pediatr Int. 2022.01; 64 (1): e15214. ( PubMed, DOI )

Kohsuke Imai, Tomonori Ishii, Shigeaki Nonoyama, Takahiro Yasumi, Hirokazu Kanegane, Taku Fukushima, Masayuki Matsumaru, Tetsushi Akasaki, Hideo Usui. Real-world results with IgPro20 for hypo- or agammaglobulinemia in Japan. Pediatr Int. 2022.01; 64 (1): e15362. ( 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 )

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 )

Dirk Roos, Karin van Leeuwen, Amy P Hsu, Debra Long Priel, Amber Begtrup, Rhonda Brandon, Amit Rawat, Pandiarajan Vignesh, Manesha Madkaikar, Marie José Stasia, Faris Ghalib Bakri, Martin de Boer, Joachim Roesler, Nezihe Köker, M Yavuz Köker, Marianne Jakobsen, Jacinta Bustamante, Maria Bravo Garcia-Morato, Juan Luis Valdivieso Shephard, Deniz Cagdas, Ilhan Tezcan, Roya Sherkat, Esmaeil Mortaz, Abbas Fayezi, Mohammad Shahrooei, Baruch Wolach, Lizbeth Blancas-Galicia, Hirokazu Kanegane, Toshinao Kawai, Antonio Condino-Neto, Mauno Vihinen, Christa S Zerbe, Steven M Holland, Harry L Malech, John I Gallin, Douglas B Kuhns. Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update). Blood Cells Mol Dis. 2021.12; 92 102596. ( PubMed, DOI )

Satoshi Inaba, Yuta Aizawa, Yuki Miwa, Chihaya Imai, Hidenori Ohnishi, Hirokazu Kanegane, Akihiko Saitoh. Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles. Front Immunol. 2021.12; 12 786164. ( PubMed, DOI )

Xi Yang, Han Yao, Qian Zhao, Qin Zhao, Xin Yan, Zhiyong Zhang, Peiyan Kong, Xi Zhang, Hirokazu Kanegane, Xiaodong Zhao, Xuemei Tang. UNC13D mutation in a patient with juvenile polymyositis with recurrent macrophage activation syndrome Rheumatology (Oxford). 2021.11; 60 (11): e404-e406. ( PubMed, DOI )

Kana Unuma, Yohsuke Makino, Kouhei Yamamoto, Shinya Hattori, Nobutaka Arai, Kentaro Sakai, Masanobu Kitagawa, Koichi Uemura, Hirokazu Kanegane. Fatal intracranial hemorrhage due to infantile acute lymphoblastic leukemia mimicking abusive head trauma J Forensic Sci. 2021.11; 66 (6): 2504-2510. ( PubMed, DOI )

Mayuka Shiraki, Eleri Williams, Norifumi Yokoyama, Kunihiro Shinoda, Zohreh Nademi, Kana Matsumoto, Hiroshi Nihira, Yoshitaka Honda, Kazushi Izawa, Ryuta Nishikomori, Mary A Slatter, Andrew J Cant, Andrew R Gennery, Hidenori Ohnishi, Hirokazu Kanegane. Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency J Clin Immunol. 2021.11; 41 (8): 1954-1956. ( PubMed, DOI )

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

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

Adam Wahida, Madeleine Müller, Andreas Hiergeist, Bastian Popper, Katja Steiger, Caterina Branca, Markus Tschurtschenthaler, Thomas Engleitner, Sainitin Donakonda, Jordy De Coninck, Rupert Öllinger, Marie K Pfautsch, Nicole Müller, Miguel Silva, Sinem Usluer, Erik Thiele Orberg, Jan P Böttcher, Nicole Pfarr, Martina Anton, Julia B Slotta-Huspenina, Andreas G Nerlich, Tobias Madl, Marijana Basic, André Bleich, Geert Berx, Jürgen Ruland, Percy A Knolle, Roland Rad, Timon E Adolph, Peter Vandenabeele, Hirokazu Kanegane, André Gessner, Philipp J Jost, Monica Yabal. XIAP restrains TNF-driven intestinal inflammation and dysbiosis by promoting innate immune responses of Paneth and dendritic cells Sci Immunol. 2021.11; 6 (65): eabf7235. ( 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 )

Daisuke Toyama, Akihiro Hoshino, Kento Inoue, Takahiro Kamiya, Hirokazu Kanegane, Shohei Yamamoto. Myelodysplastic Syndrome in a Patient with IPEX Syndrome J Clin Immunol. 2021.10; 41 (7): 1683-1685. ( PubMed, DOI )

Dirk Roos, Karin van Leeuwen, Amy P Hsu, Debra Long Priel, Amber Begtrup, Rhonda Brandon, Marie José Stasia, Faris Ghalib Bakri, Nezihe Köker, M Yavuz Köker, Manisha Madkaika, Martin de Boer, Maria Bravo Garcia-Morato, Juan Luis Valdivieso Shephard, Joachim Roesler, Hirokazu Kanegane, Toshinao Kawai, Gigliola Di Matteo, Mohammad Shahrooei, Jacinta Bustamante, Amit Rawat, Pandiarajan Vignesh, Esmaeil Mortaz, Abbas Fayezi, Deniz Cagdas, Ilhan Tezcan, Maleewan Kitcharoensakkul, Mary C Dinauer, Isabelle Meyts, Baruch Wolach, Antonio Condino-Neto, Christa S Zerbe, Steven M Holland, Harry L Malech, John I Gallin, Douglas B Kuhns. Hematologically important mutations: X-linked chronic granulomatous disease (fourth update) Blood Cells Mol Dis. 2021.09; 90 102587. ( PubMed, DOI )

Takao Karasawa, Ko Kudo, Kay Tanita, Yoshihiro Takahashi, Hirokazu Kanegane, Kiminori Terui. Epstein-Barr Virus-Negative Granulomatous Disease Due to SAP Deficiency J Clin Immunol. 2021.08; 41 (6): 1372-1375. ( 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 )

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 )

Thomas Magg, Tsubasa Okano, Lars M Koenig, Daniel F R Boehmer, Samantha L Schwartz, Kento Inoue, Jennifer Heimall, Francesco Licciardi, Julia Ley-Zaporozhan, Ronald M Ferdman, Andrés Caballero-Oteyza, Esther N Park, Brenda M Calderon, Debayan Dey, Hirokazu Kanegane, Kazutoshi Cho, Davide Montin, Karl Reiter, Matthias Griese, Michael H Albert, Meino Rohlfs, Paul Gray, Christoph Walz, Graeme L Conn, Kathleen E Sullivan, Christoph Klein, Tomohiro Morio, Fabian Hauck. Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency Sci Immunol. 2021.06; 6 (60): ( PubMed, DOI )

Kay Tanita, Fumiaki Sakura, Ryusuke Nambu, Miyuki Tsumura, Yusuke Imanaka, Hidenori Ohnishi, Zenichiro Kato, Jie Pan, Akihiro Hoshino, Koji Suzuki, Motoko Yasutomi, Shuichiro Umetsu, Chizuru Okada, Masatoshi Takagi, Kohsuke Imai, Osamu Ohara, Alexo M Muise, Satoshi Okada, Tomohiro Morio, Hirokazu Kanegane. Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3. J Clin Immunol. 2021.05; 41 (4): 780-790. ( PubMed, DOI )

Eriko Totsune, Tomohiro Nakano, Kunihiko Moriya, Daichi Sato, Dai Suzuki, Akinobu Miura, Saori Katayama, Hidetaka Niizuma, Junko Kanno, Menno C van Zelm, Kohsuke Imai, Hirokazu Kanegane, Yoji Sasahara, Shigeo Kure. Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants Front Immunol. 2021.04; 12 677572. ( PubMed, DOI )

Saori Kadowaki, Kunio Hashimoto, Toyoki Nishimura, Kenichi Kashimada, Tomonori Kadowaki, Norio Kawamoto, Kohsuke Imai, Satoshi Okada, Hirokazu Kanegane, Hidenori Ohnishi. Functional analysis of novel A20 variants in patients with atypical inflammatory diseases. Arthritis Res Ther. 2021.02; 23 (1): 52. ( PubMed, DOI )

Ziqing Ye, Wenhui Hu, Bingbing Wu, Yueping Zhang, Caixia Lei, Isabelle Williams, Dror S Shouval, Hirokazu Kanegane, Kyung Mo Kim, Lissy de Ridder, Neil Shah, Galina Ling, Baruch Yerushalmi, Daniel Kotlarz, Scott Snapper, Ruth Horn, Christoph Klein, Aleixo M Muise, Ying Huang, Holm H Uhlig. Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects. J Pediatr Gastroenterol Nutr. 2021.02; 72 (2): 276-281. ( PubMed, DOI )

Tao Qin, Yanjun Jia, Yuhang Liu, Rongxin Dai, Lina Zhou, Satoshi Okada, Miyuki Tsumura, Hidenori Ohnishi, Zenichiro Kato, Hirokazu Kanegane, Xiulian Sun, Xiaodong Zhao. A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency. Front Immunol. 2021.02; 11 517544. ( PubMed, DOI )

Haruka Miyazaki, Namiko Hoshi, Michitaka Kohashi, Eri Tokunaga, Yuna Ku, Haruka Takenaka, Makoto Ooi, Nobuyuki Yamamoto, Suguru Uemura, Noriyuki Nishimura, Kazumoto Iijima, Keisuke Jimbo, Tsubasa Okano, Akihiro Hoshino, Kohsuke Imai, Hirokazu Kanegane, Ichiro Kobayashi, Yuzo Kodama. A case of autoimmune enteropathy with CTLA4 haploinsufficiency. Intest Res. 2021.01; ( 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. 2021.01; ( PubMed, DOI )

Maiko Inoue, Takeshi Isoda, Motoi Yamashita, Takahiro Tomoda, Kento Inoue, Tsubasa Okano, Teppei Ohkawa, Akifumi Endo, Noriko Mitsuiki, Takahiro Kamiya, Masakatsu Yanagimachi, Kouhei Yamamoto, Yuichiro Inaba, Toru Sasaki, Masatoshi Takagi, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio. Cytomegalovirus Laryngitis in Primary Combined Immunodeficiency Diseases. J Clin Immunol. 2021.01; 41 (1): 243-247. ( PubMed, DOI )

Chiaki Hosoda, Takashi Ishiguro, Yoshihiko Shimizu, Hirokazu Kanegane, Noboru Takayanagi. Mycobacterium genavense Infection Presenting as an Endobronchial Polyp and Upper Lobe Atelectasis. Am J Respir Crit Care Med. 2020.12; 202 (11): e144-e145. ( PubMed, DOI )

Endo Akifumi, Yamashita Motoi, Kamiya Takahiro, Mitsuiki Noriko, Isoda Takeshi, Imai Kohsuke, Takagi Masatoshi, Kajiwara Michiko, Kanegane Hirokazu, Morio Tomohiro. A Retrospective Study of Six Cases of HLA Haplo-Identical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide PEDIATRIC BLOOD & CANCER. 2020.12; 67

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 )

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

Tomoo Osumi, Satoshi Yoshimura, Mayumi Sako, Toru Uchiyama, Takashi Ishikawa, Toshinao Kawai, Eisuke Inoue, Tetsuya Takimoto, Ichiro Takeuchi, Masaki Yamada, Kenichi Sakamoto, Kaoru Yoshida, Yui Kimura, Yukihiro Matsukawa, Kana Matsumoto, Ken-Ichi Imadome, Katsuhiro Arai, Takao Deguchi, Kohsuke Imai, Yuki Yuza, Kimikazu Matsumoto, Masafumi Onodera, Hirokazu Kanegane, Daisuke Tomizawa, Motohiro Kato. Prospective Study of Allogeneic Hematopoietic Stem Cell Transplantation with Post-Transplantation Cyclophosphamide and Antithymocyte Globulin from HLA-Mismatched Related Donors for Nonmalignant Diseases. Biol Blood Marrow Transplant. 2020.11; 26 (11): e286-e291. ( PubMed, DOI )

Hoshino A, Xi Y, Nakao T, Kato K, Fujiyama S, Koh K, Imamura T, Kanegane H.. A Cry for the Development of Newborn Screening for Familial Hemophagocytic Lymphohistiocytosis. J Clin Immunol. 2020.11; 40 (8): 1196-1198. ( PubMed, DOI )

Inoue K, Sasaki S, Yasumi T, Imai K, Kusunoki T, Morio T, Kanegane H. Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia J Clin Immunol. 2020.11; 40 (8): 1132-1137. ( PubMed, DOI )

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

Kento Inoue, Hiroki Miura, Akihiro Hoshino, Takahiro Kamiya, Kay Tanita, Tamae Ohye, Myoung-Ja Park, Masakatsu Yanagimachi, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Tetsushi Yoshikawa, Hirokazu Kanegane. Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency. Transpl Infect Dis. 2020.10; 22 (5): e13331. ( PubMed, DOI )

Jose Carlo Miguel M Villanueva, Koon-Wing Chan, Remedios C Ong, Agnes G Andaya, Yu-Lung Lau, Menno C van Zelm, Hirokazu Kanegane. Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines. Front Pediatr. 2020.10; 8 604725. ( PubMed, DOI )

Takashi Uchida, Tasuku Suzuki, Atsuo Kikuchi, Fumihiko Kakuta, Takashi Ishige, Yoshiko Nakayama, Hirokazu Kanegane, Yuri Etani, Tatsuki Mizuochi, Shin-Ichi Fujiwara, Ryusuke Nambu, Kazuhide Suyama, Masanori Tanaka, Atsushi Yoden, Daiki Abukawa, Yoji Sasahara, Shigeo Kure. Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea. J Pediatr Gastroenterol Nutr. 2020.09; 71 (3): 333-339. ( PubMed, DOI )

Yasushi Kasahara, Masaru Imamura, Chansu Shin, Hiroshi Shimizu, Jirou Utsumi, Ryosuke Hosokai, Haruko Iwabuchi, Takayuki Takachi, Akiyoshi Kakita, Hirokazu Kanegane, Akihiko Saitoh, Chihaya Imai. Fatal Progressive Meningoencephalitis Diagnosed in Two Members of a Family With X-Linked Agammaglobulinemia. Front Pediatr. 2020.09; 8 579. ( PubMed, DOI )

Kazuki Nemoto, Toshinori Kawanami, Takayuki Hoshina, Masataka Ishimura, Kei Yamasaki, Satoshi Okada, Hirokazu Kanegane, Kazuhiro Yatera, Koichi Kusuhara. Impaired B-Cell Differentiation in a Patient With STAT1 Front Immunol. 2020.09; 11 557521. ( 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 )

Daniel Leung, Gilbert T Chua, Alric V Mondragon, Youjia Zhong, Le Nguyen-Ngoc-Quynh, Kohsuke Imai, Pandiarajan Vignesh, Narissara Suratannon, Huawei Mao, Wen-I Lee, Yae-Jean Kim, Godfrey C F Chan, Woei Kang Liew, Le Thi Minh Huong, Hirokazu Kanegane, Dina Muktiarti, Xiaodong Zhao, Fatima Johanna Santos-Ocampo, Amir Hamzah Abdul Latiff, Reinhard Seger, Hans D Ochs, Surjit Singh, Pamela P Lee, Yu Lung Lau. Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific. Front Immunol. 2020.08; 11 1605. ( PubMed, DOI )

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.. 2020.07; ( PubMed, DOI )

Miho Maeda, Akira Morimoto, Yoko Shioda, Takeshi Asano, Yuhki Koga, Yozo Nakazawa, Hirokazu Kanegane, Kazuko Kudo, Shouichi Ohga, Eiichi Ishii, . Long-term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan. Pediatr Blood Cancer. 2020.07; 67 (7): e28381. ( PubMed, DOI )

Tomonori Kadowaki, Hidenori Ohnishi, Norio Kawamoto, Saori Kadowaki, Tomohiro Hori, Kenichi Nishimura, Chie Kobayashi, Tomonari Shigemura, Shohei Ogata, Yuzaburo Inoue, Eitaro Hiejima, Kazushi Izawa, Tadashi Matsubayashi, Kazuaki Matsumoto, Kohsuke Imai, Ryuta Nishikomori, Shuichi Ito, Hirokazu Kanegane, Toshiyuki Fukao. Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry. Clin Immunol. 2020.07; 216 108441. ( PubMed, DOI )

Kensaku Kohrogi, Masahiro Migita, Tadashi Anan, Takeshi Sugahara, Kazuhiko Yoshimoto, Hirokazu Kanegane, Kimitoshi Nakamura. Successful Artery Embolization in a Patient with Autoimmune Lymphoproliferative Syndrome Associated with Splenic Rupture. J. Clin. Immunol. 2020.07; 40 (5): 780-782. ( PubMed, DOI )

Akihiro Hoshino, Akira Nishimura, Takuya Naruto, Tsubasa Okano, Kazuaki Matsumoto, Keisuke Okamoto, Hiroshi Shintaku, Shown Tokoro, Hiroyuki Okamoto, Taizo Wada, Masatoshi Takagi, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio. High-throughput analysis revealed the unique immunoglobulin gene rearrangements in plasmacytoma-like post-transplant lymphoproliferative disorder. Br J Haematol. 2020.05; 189 (4): e164-e168. ( PubMed, DOI )

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. ( DOI ichushi )

Takuro Nishikawa, Ken Okamura, Mizuki Moriyama, Kenji Watanabe, Atsuko Ibusuki, Seiji Sameshima, Izumi Masamoto, Ieharu Yamazaki, Kay Tanita, Takuro Kanekura, Hirokazu Kanegane, Tamio Suzuki, Yoshifumi Kawano. Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2. J. Dermatol.. 2020.02; 47 (2): 185-189. ( PubMed, DOI )

Tao Xu, Qin Zhao, Wenyan Li, Xuemei Chen, Xiuhong Xue, Zhi Chen, Xiao Du, Xiaoming Bai, Qian Zhao, Lina Zhou, Xuemei Tang, Xi Yang, Hirokazu Kanegane, Xiaodong Zhao. X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic. Eur. J. Pediatr.. 2020.02; 179 (2): 327-338. ( PubMed, DOI )

Kudo K, Maeda M, Suzuki N, Kanegane H, Ohga S, Ishii E, Shioda Y, Imamura T, Imashuku S, Tsunematsu Y, Endo M, Shimada A, Koga Y, Hashii Y, Noguchi M, Inoue M, Tabuchi K, Morimoto A; Histiocytosis study group of the Japanese Society of Pediatric Hematology/Oncology. Nationwide retrospective review of hematopoietic stem cell transplantation in children with refractory Langerhans cell histiocytosis. Int. J. Hematol.. 2020.01; 111 (1): 137-148. ( PubMed, DOI )

Hamidah Alias, Abdul Halim Abdul Rashid, Sie Chong Doris Lau, C-Khai Loh, Jamari Sapuan, Sharaf Ibrahim, Reena R Md Zin, Yock Ping Chow, Hirokazu Kanegane, Mariko Eguchi. Early Surgery Is Feasible for a Very Large Congenital Infantile Fibrosarcoma Associated With Life Threatening Coagulopathy: A Case Report and Literature Review. Front Pediatr. 2019.12; 7 529. ( PubMed, DOI )

Nobuyoshi Kusano, Naoki Sakata, Keisuke Sugimoto, Tomoki Miyazawa, Satoshi Ueda, Munehiro Okano, Ken-Ichi Imadome, Akihiro Hoshino, Hirokazu Kanegane, Masatomo Kimura, Takao Sato, Mitsuru Okada, Tsukasa Takemura. An 18-Year-Old Male With X-linked Lymphoproliferative Syndrome Type 1 Who Developed Primary Central Nervous System Lymphoma 6 Months After Primary Epstein-Barr Virus Infection. J. Pediatr. Hematol. Oncol. 2019.11; 41 (8): e538-e541. ( 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 )

Atsuko Ibusuki, Takuro Nishikawa, Tsubasa Hiraki, Tsubasa Okano, Kohsuke Imai, Hirokazu Kanegane, Hidenori Ohnishi, Zenichiro Kato, Kazuyasu Fujii, Akihide Tanimoto, Yoshifumi Kawano, Takuro Kanekura. Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL2RG gene. J. Dermatol.. 2019.11; 46 (11): 1019-1023. ( PubMed, DOI )

Kazufumi Kunimura, Daiji Sakata, Xin Tun, Takehito Uruno, Miho Ushijima, Tomoya Katakai, Akira Shiraishi, Ryosuke Aihara, Yasuhisa Kamikaseda, Keisuke Matsubara, Hirokazu Kanegane, Shinichiro Sawa, Gérard Eberl, Shouichi Ohga, Yasunobu Yoshikai, Yoshinori Fukui. S100A4 Protein Is Essential for the Development of Mature Microfold Cells in Peyer's Patches. Cell Rep. 2019.11; 29 (9): 2823-2834.e7. ( 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 )

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. 2019.07; 10 (1): 185. ( PubMed, DOI )

Hoshino A, Kanegane H, Nishi M, Tsuge I, Tokuda K, Kobayashi I, Imai K, Morio T, Takagi M. Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome. Clin. Immunol. 2019.06; 203 9-13. ( PubMed, DOI )

Ryu Yanagaisawa, Kazuyuki Matsuda, Shouichi Ohga, Hirokazu Kanegane, Akira Morimoto, Yasuhiro Okamoto, Akira Ohara, Keitaro Fukushima, Manabu Sotomatsu, Keiko Nomura, Akiko M Saito, Keizo Horibe, Eiichi Ishii, Yozo Nakazawa. Factors predicting the recurrence of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children after treatment using the HLH-2004 protocol. Int. J. Hematol. 2019.05; 109 (5): 612-617. ( 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 )

Ryu Yanagisawa, Kazuyuki Matsuda, Shouichi Ohga, Hirokazu Kanegane, Akira Morimoto, Yasuhiro Okamoto, Akira Ohara, Keitaro Fukushima, Manabu Sotomatsu, Keiko Nomura, Akiko M Saito, Keizo Horibe, Eiichi Ishii, Yozo Nakazawa. Correction to: Factors predicting the recurrence of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children after treatment using the HLH-2004 protocol. Int. J. Hematol. 2019.05; 109 (5): 629. ( 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 )

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 )

Ryu Yanagisawa, Yozo Nakazawa, Kazuyuki Matsuda, Takahiro Yasumi, Hirokazu Kanegane, Shouichi Ohga, Akira Morimoto, Yoshiko Hashii, Masue Imaizumi, Yasuhiro Okamoto, Akiko M Saito, Keizo Horibe, Eiichi Ishii, . Outcomes in children with hemophagocytic lymphohistiocytosis treated using HLH-2004 protocol in Japan. Int. J. Hematol. 2019.02; 109 (2): 206-213. ( PubMed, DOI )

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 )

Tsubasa Okano, Kohsuke Imai, Yuki Tsujita, Noriko Mitsuiki, Kenichi Yoshida, Chikako Kamae, Kenichi Honma, Kanako Mitsui-Sekinaka, Yujin Sekinaka, Tamaki Kato, Katsuyuki Hanabusa, Eri Endo, Takehiro Takashima, Haruka Hiroki, Tzu-Wen Yeh, Keisuke Tanaka, Masakazu Nagahori, Ikuya Tsuge, Yuki Bando, Fuminori Iwasaki, Yoshiaki Shikama, Masami Inoue, Tomiko Kimoto, Naohiko Moriguchi, Yuki Yuza, Takashi Kaneko, Kyoko Suzuki, Tomoyo Matsubara, Yoshihiro Maruo, Tomoaki Kunitsu, Tomoko Waragai, Hideki Sano, Yuko Hashimoto, Kazuhiro Tasaki, Osamu Suzuki, Toshihiko Shirakawa, Motohiro Kato, Toru Uchiyama, Masataka Ishimura, Tetsuzo Tauchi, Hiroshi Yagasaki, Shiann-Tarng Jou, Hsin-Hui Yu, Hirokazu Kanegane, Sven Kracker, Anne Durandy, Daiei Kojima, Hideki Muramatsu, Taizo Wada, Yuzaburo Inoue, Hidetoshi Takada, Seiji Kojima, Seishi Ogawa, Osamu Ohara, Shigeaki Nonoyama, Tomohiro Morio. Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1. J. Allergy Clin. Immunol.. 2019.01; 143 (1): 266-275. ( PubMed, DOI )

Yuki Yatsushiro, Takuro Nishikawa, Aki Saito, Yozo Nakazawa, Ken-Ichi Imadome, Shunsuke Nakagawa, Yuichi Kodama, Yasuhiro Okamoto, Hirokazu Kanegane, Yoshifumi Kawano. Epstein-Barr Virus (EBV)-induced B-cell Lymphoproliferative Disorder Mimicking the Recurrence of EBV-associated Hemophagocytic Lymphohistiocytosis. J. Pediatr. Hematol. Oncol. 2019.01; 41 (1): e44-e46. ( 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 TCF3-PBX1 fusion gene Haematologica. 2019.01; 104 (1): e35-e37. ( 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.. 2019.01; 143 (1): 421-424.e11. ( PubMed, DOI )

Sahoko Ono, Junko Matsuda, Etsuko Watanabe, Hiroto Akaike, Hideto Teranishi, Ippei Miyata, Takanobu Otomo, Yoshito Sadahira, Tatsuki Mizuochi, Hironori Kusano, Masayoshi Kage, Hiroo Ueno, Kenichi Yoshida, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Yasuhide Hayashi, Hirokazu Kanegane, Kazunobu Ouchi. Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. Hum Genome Var. 2019.01; 6 2. ( PubMed, DOI )

Charlotte Schwab, Annemarie Gabrysch, Peter Olbrich, Virginia Patiño, Klaus Warnatz, Daniel Wolff, Akihiro Hoshino, Masao Kobayashi, Kohsuke Imai, Masatoshi Takagi, Ingunn Dybedal, Jamanda A Haddock, David M Sansom, Jose M Lucena, Maximilian Seidl, Annette Schmitt-Graeff, Veronika Reiser, Florian Emmerich, Natalie Frede, Alla Bulashevska, Ulrich Salzer, Desirée Schubert, Seiichi Hayakawa, Satoshi Okada, Maria Kanariou, Zeynep Yesim Kucuk, Hugo Chapdelaine, Lenka Petruzelkova, Zdenek Sumnik, Anna Sediva, Mary Slatter, Peter D Arkwright, Andrew Cant, Hanns-Martin Lorenz, Thomas Giese, Vassilios Lougaris, Alessandro Plebani, Christina Price, Kathleen E Sullivan, Michel Moutschen, Jiri Litzman, Tomas Freiberger, Frank L van de Veerdonk, Mike Recher, Michael H Albert, Fabian Hauck, Suranjith Seneviratne, Jana Pachlopnik Schmid, Antonios Kolios, Gary Unglik, Christian Klemann, Carsten Speckmann, Stephan Ehl, Alan Leichtner, Richard Blumberg, Andre Franke, Scott Snapper, Sebastian Zeissig, Charlotte Cunningham-Rundles, Lisa Giulino-Roth, Olivier Elemento, Gregor Dückers, Tim Niehues, Eva Fronkova, Veronika Kanderová, Craig D Platt, Janet Chou, Talal A Chatila, Raif Geha, Elizabeth McDermott, Su Bunn, Monika Kurzai, Ansgar Schulz, Laia Alsina, Ferran Casals, Angela Deyà-Martinez, Sophie Hambleton, Hirokazu Kanegane, Kjetil Taskén, Olaf Neth, Bodo Grimbacher. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J. Allergy Clin. Immunol.. 2018.12; 142 (6): 1932-1946. ( PubMed, DOI )

Hirokazu Kanegane. Inflammatory bowel diseases and primary immunodeficiency diseases. Immunol Med. 2018.12; 41 (4): 154-161. ( 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.. 2018.11; 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.. 2018.11; 38 (8): 927-937. ( PubMed, DOI )

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

Stephen Jolles, Mikhail A Rojavin, John-Philip Lawo, Robert Nelson, Richard L Wasserman, Michael Borte, Michael A Tortorici, Kohsuke Imai, Hirokazu Kanegane. Long-Term Efficacy and Safety of Hizentra® in Patients with Primary Immunodeficiency in Japan, Europe, and the United States: a Review of 7 Phase 3 Trials. J. Clin. Immunol.. 2018.11; 38 (8): 864-875. ( PubMed, DOI )

Rajiv Mallick, Stephen Jolles, Hirokazu Kanegane, Dominique Agbor-Tarh, Mikhail Rojavin. Treatment Satisfaction with Subcutaneous Immunoglobulin Replacement Therapy in Patients with Primary Immunodeficiency: a Pooled Analysis of Six Hizentra® Studies. J. Clin. Immunol.. 2018.11; 38 (8): 886-897. ( 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.. 2018.10; 195 45-48. ( PubMed, DOI )

Shintaro Ono, Manabu Nakayama, Hirokazu Kanegane, Akihiro Hoshino, Saeko Shimodera, Hirofumi Shibata, Hisanori Fujino, Takahiro Fujino, Yuta Yunomae, Tsubasa Okano, Motoi Yamashita, Takahiro Yasumi, Kazushi Izawa, Masatoshi Takagi, Kohsuke Imai, Kejian Zhang, Rebecca Marsh, Capucine Picard, Sylvain Latour, Osamu Ohara, Tomohiro Morio. Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing. Int. J. Hematol.. 2018.09; 108 (3): 319-328. ( PubMed, DOI )

Mako Okabe, Keiichi Hirono, Kentaro Tamura, Fukiko Ichida, Hirokazu Kanegane. Reactive peripheral blood plasmacytosis in Kawasaki disease. Pediatr Int. 2018.09; 60 (9): 884-885. ( PubMed, DOI )

David Boutboul, Hye Sun Kuehn, Zoé Van de Wyngaert, Julie E Niemela, Isabelle Callebaut, Jennifer Stoddard, Christelle Lenoir, Vincent Barlogis, Catherine Farnarier, Frédéric Vely, Nao Yoshida, Seiji Kojima, Hirokazu Kanegane, Akihiro Hoshino, Fabian Hauck, Ludovic Lhermitte, Vahid Asnafi, Philip Roehrs, Shaoying Chen, James W Verbsky, Katherine R Calvo, Ammar Husami, Kejian Zhang, Joseph Roberts, David Amrol, John Sleaseman, Amy P Hsu, Steven M Holland, Rebecca Marsh, Alain Fischer, Thomas A Fleisher, Capucine Picard, Sylvain Latour, Sergio D Rosenzweig. Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. J. Clin. Invest.. 2018.07; 128 (7): 3071-3087. ( 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.. 2018.07; 218 (5): 825-834. ( PubMed, DOI )

Kunihiko Moriya, Yoji Sasahara, Hidenori Ohnishi, Tomoki Kawai, Hirokazu Kanegane. IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. J. Clin. Immunol.. 2018.07; 38 (5): 543-545. ( 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 )

Mari Tanaka-Kubota, Koji Shinozaki, Satoshi Miyamoto, Masakatsu Yanagimachi, Tsubasa Okano, Noriko Mitsuiki, Masahiro Ueki, Masafumi Yamada, Kohsuke Imai, Masatoshi Takagi, Kazunaga Agematsu, Hirokazu Kanegane, Tomohiro Morio. Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease. Int. J. Hematol.. 2018.05; 107 (5): 610-614. ( PubMed, DOI )

Tsubasa Okano, Yuki Tsujita, Hirokazu Kanegane, Kanako Mitsui-Sekinaka, Kay Tanita, Satoshi Miyamoto, Tzu-Wen Yeh, Motoi Yamashita, Naomi Terada, Yumi Ogura, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Tomohiro Morio. Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases. J. Clin. Immunol.. 2018.04; 38 (3): 300-306. ( PubMed, DOI )

Tomonori Kadowaki, Hidenori Ohnishi, Norio Kawamoto, Tomohiro Hori, Kenichi Nishimura, Chie Kobayashi, Tomonari Shigemura, Shohei Ogata, Yuzaburo Inoue, Tomoki Kawai, Eitaro Hiejima, Masatoshi Takagi, Kohsuke Imai, Ryuta Nishikomori, Shuichi Ito, Toshio Heike, Osamu Ohara, Tomohiro Morio, Toshiyuki Fukao, Hirokazu Kanegane. Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders. J Allergy Clin Immunol. 2018.04; 141 (4): 1485-1488.e11. ( PubMed, DOI )

Kazutoshi Cho, Masafumi Yamada, Kazunaga Agematsu, Hirokazu Kanegane, Noriko Miyake, Masahiro Ueki, Takuma Akimoto, Norimoto Kobayashi, Satoru Ikemoto, Mishie Tanino, Atsushi Fujita, Itaru Hayasaka, Satoshi Miyamoto, Mari Tanaka-Kubota, Koh Nakata, Masaaki Shiina, Kazuhiro Ogata, Hisanori Minakami, Naomichi Matsumoto, Tadashi Ariga. Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. Am. J. Hum. Genet.. 2018.03; 102 (3): 480-486. ( PubMed, DOI )

Federica Barzaghi, Laura Cristina Amaya Hernandez, Benedicte Neven, Silvia Ricci, Zeynep Yesim Kucuk, Jack J Bleesing, Zohreh Nademi, Mary Anne Slatter, Erlinda Rose Ulloa, Anna Shcherbina, Anna Roppelt, Austen Worth, Juliana Silva, Alessandro Aiuti, Luis Murguia-Favela, Carsten Speckmann, Magda Carneiro-Sampaio, Juliana Folloni Fernandes, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner, Ayca Kiykim, Ansgar Schulz, Sandra Steinmann, Lucia Dora Notarangelo, Eleonora Gambineri, Paolo Lionetti, William Thomas Shearer, Lisa R Forbes, Caridad Martinez, Despina Moshous, Stephane Blanche, Alain Fisher, Frank M Ruemmele, Come Tissandier, Marie Ouachee-Chardin, Frédéric Rieux-Laucat, Marina Cavazzana, Waseem Qasim, Barbarella Lucarelli, Michael H Albert, Ichiro Kobayashi, Laura Alonso, Cristina Diaz De Heredia, Hirokazu Kanegane, Anita Lawitschka, Jong Jin Seo, Marta Gonzalez-Vicent, Miguel Angel Diaz, Rakesh Kumar Goyal, Martin G Sauer, Akif Yesilipek, Minsoo Kim, Yesim Yilmaz-Demirdag, Monica Bhatia, Julie Khlevner, Erick J Richmond Padilla, Silvana Martino, Davide Montin, Olaf Neth, Agueda Molinos-Quintana, Justo Valverde-Fernandez, Arnon Broides, Vered Pinsk, Antje Ballauf, Filomeen Haerynck, Victoria Bordon, Catharina Dhooge, Maria Laura Garcia-Lloret, Robbert G Bredius, Krzysztof Kałwak, Elie Haddad, Markus Gerhard Seidel, Gregor Duckers, Sung-Yun Pai, Christopher C Dvorak, Stephan Ehl, Franco Locatelli, Frederick Goldman, Andrew Richard Gennery, Mort J Cowan, Maria-Grazia Roncarolo, Rosa Bacchetta, . Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study. J Allergy Clin Immunol. 2018.03; 141 (3): 1036-1049.e5. ( 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 )

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 )

Hirokazu Kanegane, Akihiro Hoshino, Tsubasa Okano, Takahiro Yasumi, Taizo Wada, Hidetoshi Takada, Satoshi Okada, Motoi Yamashita, Tzu-Wen Yeh, Ryuta Nishikomori, Masatoshi Takagi, Kohsuke Imai, Hans D Ochs, Tomohiro Morio. Flow cytometry-based diagnosis of primary immunodeficiency diseases. Allergol Int. 2018.01; 67 (1): 43-54. ( PubMed, DOI )

Masayuki Nagasawa, Noriko Mitsuiki, Yuki Aoki, Toshiaki Ono, Takeshi Isoda, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Hirokazu Kanegane, Tomohiro Morio. Effect of reduced-intensity conditioning and the risk of late-onset non-infectious pulmonary complications in pediatric patients. Eur J Haematol. 2017.12; 99 (6): 525-531. ( PubMed, DOI )

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

Tsubasa Okano, Takuro Nishikawa, Eri Watanabe, Takashi Watanabe, Takehiro Takashima, Tzu-Wen Yeh, Motoi Yamashita, Mari Tanaka-Kubota, Satoshi Miyamoto, Noriko Mitsuiki, Masatoshi Takagi, Yoshifumi Kawano, Yoshiki Mochizuki, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio. Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy. Clin. Immunol.. 2017.08; 183 112-120. ( PubMed, DOI )

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

Masatoshi Takagi, Shohei Ogata, Hiroo Ueno, Kenichi Yoshida, Tzuwen Yeh, Akihiro Hoshino, Jinhua Piao, Motoy Yamashita, Mai Nanya, Tsubasa Okano, Michiko Kajiwara, Hirokazu Kanegane, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Yuki Bando, Motohiro Kato, Yasuhide Hayashi, Satoru Miyano, Kohsuke Imai, Seishi Ogawa, Seiji Kojima, Tomohiro Morio. Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. J. Allergy Clin. Immunol.. 2017.06; 139 (6): 1914-1922. ( PubMed, DOI )

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; ( 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 )

Takagi Masatoshi, Ishiwata Yasuyoshi, Aoki Yuki, Miyamoto Satoshi, Hoshino Akihiro, Matsumoto Kazuaki, Nishimura Akira, Tanaka Mari, Yanagimachi Masakatsu, Mitsuiki Noriko, Imai Kohsuke, Kanegane Hirokazu, Kajiwara Michiko, Takikawa Kanako, Mae Tsukasa, Tomita Osamu, Fujimura Junya, Yasuhara Masato, Tomizawa Daisuke, Mizutani Shuki, Morio Tomohiro. 小児の難治性血液悪性疾患に対するクロファラビンとブスルファンを用いたHLAハプロタイプ一致造血幹細胞移植(HLA haploidentical hematopoietic cell transplantation using clofarabine and busulfan for refractory pediatric hematological malignancy) International Journal of Hematology. 2017.05; 105 (5): 686-691. ( ichushi )

Tasuku Suzuki, Yoji Sasahara, Atsuo Kikuchi, Humihiko Kakuta, Toshihiko Kashiwabara, Takashi Ishige, Yoshiko Nakayama, Masanori Tanaka, Akihiro Hoshino, Hirokazu Kanegane, Daiki Abukawa, Shigeo Kure. Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunodeficiency Genes in Pediatric IBD: a Japanese Multicenter Study. J. Clin. Immunol. 2017.01; 37 (1): 67-79. ( PubMed, DOI )

Shintaro Ono, Tsubasa Okano, Akihiro Hoshino, Masakatsu Yanagimachi, Kazuko Hamamoto, Yozo Nakazawa, Toshihiko Imamura, Masaei Onuma, Hidetaka Niizuma, Yoji Sasahara, Hiroshi Tsujimoto, Taizo Wada, Reiko Kunisaki, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane. Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan. J. Clin. Immunol. 2017.01; 37 (1): 85-91. ( PubMed, DOI )

Yuki Tsujita, Kanako Mitsui-Sekinaka, Kohsuke Imai, Tzu-Wen Yeh, Noriko Mitsuiki, Takaki Asano, Hidenori Ohnishi, Zenichiro Kato, Yujin Sekinaka, Kiyotaka Zaha, Tamaki Kato, Tsubasa Okano, Takehiro Takashima, Kaoru Kobayashi, Mitsuaki Kimura, Tomoaki Kunitsu, Yoshihiro Maruo, Hirokazu Kanegane, Masatoshi Takagi, Kenichi Yoshida, Yusuke Okuno, Hideki Muramatsu, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seiji Kojima, Seishi Ogawa, Osamu Ohara, Satoshi Okada, Masao Kobayashi, Tomohiro Morio, Shigeaki Nonoyama. Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency. J. Allergy Clin. Immunol.. 2016.12; 138 (6): 1672-1680.e10. ( PubMed, DOI )

Hirokazu Kanegane. Primary immunodeficiency disease and hematology. Rinsho Ketsueki. 2016.10; 57 (10): 2275-2284. ( 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 )

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 9. ( PubMed, DOI )

Saito Y, Nishida N, Nomura K, Adachi Y, Kanegane H.. A case of myeloid sarcoma followed by acute myeloid leukemia (AMIL M0). J Hematol Oncol.. 2016.01; 53 (3): 300-304.

Yusuke Okuno, Akihiro Hoshino, Hideki Muramatsu, Nozomu Kawashima, Xinan Wang, Kenichi Yoshida, Taizo Wada, Masaharu Gunji, Tomoko Toma, Tamaki Kato, Yuichi Shiraishi, Atsuko Iwata, Toshinori Hori, Toshiyuki Kitoh, Kenichi Chiba, Hiroko Tanaka, Masashi Sanada, Yoshiyuki Takahashi, Shigeaki Nonoyama, Masafumi Ito, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Hirokazu Kanegane. Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism. J. Clin. Immunol.. 2015.10; 35 (7): 610-614. ( PubMed, DOI )

Xi Yang, Naonori Nishida, Xiaodong Zhao, Hirokazu Kanegane. Advances in Understanding the Pathogenesis of Epstein-Barr Virus-Associated Lymphoproliferative Disorders. Iran J Allergy Asthma Immunol. 2015.10; 14 (5): 462-471. ( PubMed )

Mitsutaka Shiota, Xi Yang, Mei Kubokawa, Tatsuya Morishima, Kuniaki Tanaka, Masamitsu Mikami, Kenichi Yoshida, Masako Kikuchi, Kazushi Izawa, Ryuta Nishikomori, Yusuke Okuno, Xian Wang, Hirotoshi Sakaguchi, Hideki Muramatsu, Seiji Kojima, Satoru Miyano, Seishi Ogawa, Masatoshi Takagi, Daisuke Hata, Hirokazu Kanegane. Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases. J. Clin. Immunol.. 2015.07; 35 (5): 454-458. ( PubMed, DOI )

Eitaro Hiejima, Tomoki Kawai, Hiroshi Nakase, Tatsuaki Tsuruyama, Takeshi Morimoto, Takahiro Yasumi, Takashi Taga, Hirokazu Kanegane, Masayuki Hori, Katsuyuki Ohmori, Takeshi Higuchi, Minoru Matsuura, Takuya Yoshino, Hiroki Ikeuchi, Kenji Kawada, Yoshiharu Sakai, Mina T Kitazume, Tadakazu Hisamatsu, Tsutomu Chiba, Ryuta Nishikomori, Toshio Heike. Reduced Numbers and Proapoptotic Features of Mucosal-associated Invariant T Cells as a Characteristic Finding in Patients with Inflammatory Bowel Disease. Inflamm. Bowel Dis.. 2015.07; 21 (7): 1529-1540. ( PubMed, DOI )

Mondo Kuroda, Masaki Shimizu, Natsumi Inoue, Iku Ikeno, Hiroyasu Nakagawa, Ayano Yokoi, Yo Niida, Michio Konishi, Hisashi Kaneda, Noboru Igarashi, Junya Yamahana, Hiromichi Taneichi, Hirokazu Kanegane, Mika Ito, Shigeru Saito, Kengo Furuichi, Takashi Wada, Masaru Nakagawa, Hitoshi Yokoyama, Akihiro Yachie. Serum tau protein as a marker of disease activity in enterohemorrhagic Escherichia coli O111-induced hemolytic uremic syndrome. Neurochem. Int.. 2015.06; 85-86 24-30. ( PubMed, DOI )

Xi Yang, Akihiro Hoshino, Takashi Taga, Tomoaki Kunitsu, Yuhachi Ikeda, Takahiro Yasumi, Kenichi Yoshida, Taizo Wada, Kunio Miyake, Takeo Kubota, Yusuke Okuno, Hideki Muramatsu, Yuichi Adachi, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Hirokazu Kanegane. A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele. J. Clin. Immunol.. 2015.04; 35 (3): 244-248. ( PubMed, DOI )

Yukako Kawasaki, Masami Makimoto, Keiko Nomura, Akihiro Hoshino, Takeru Hamashima, Mitsuteru Hiwatari, Atsuko Nakazawa, Junko Takita, Taketoshi Yoshida, Hirokazu Kanegane. Neonatal acute megakaryoblastic leukemia mimicking congenital neuroblastoma. Clin Case Rep. 2015.03; 3 (3): 145-149. ( PubMed, DOI )

Akihiro Hoshino, Yusuke Okuno, Masahiro Migita, Hideki Ban, Xi Yang, Nobutaka Kiyokawa, Yuichi Adachi, Seiji Kojima, Osamu Ohara, Hirokazu Kanegane. X-linked agammaglobulinemia associated with B-precursor acute lymphoblastic leukemia. J. Clin. Immunol.. 2015.02; 35 (2): 108-111. ( PubMed, DOI )

Akihiro Hoshino, Keiko Nomura, Takeru Hamashima, Tomoya Isobe, Masafumi Seki, Mitsuteru Hiwatari, Kenichi Yoshida, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Junko Takita, Hirokazu Kanegane. Aggressive transformation of anaplastic large cell lymphoma with increased number of ALK-translocated chromosomes. Int. J. Hematol.. 2015.02; 101 (2): 198-202. ( PubMed, DOI )

N Nishida, X Yang, I Takasaki, K Imai, K Kato, Y Inoue, T Imamura, R Miyashita, F Kato, A Yamaide, M Mori, S Saito, J Hara, Y Adachi, T Miyawaki, H Kanegane. Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation. J Investig Allergol Clin Immunol. 2015; 25 (3): 205-213. ( PubMed )

Naoya Mori, Teruhiko Makino, Megumi Mizawa, Ko Kagoyama, Hirokazu Kanegane, Hirotoshi Sakaguchi, Takayoshi Miyazono, Seiji Kojima, Tadamichi Shimizu. Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein. Eur J Dermatol. 2014.12; ( PubMed, DOI )

Claire Aguilar, Christelle Lenoir, Nathalie Lambert, Bernadette Bègue, Nicole Brousse, Danielle Canioni, Dominique Berrebi, Maryline Roy, Stéphane Gérart, Helen Chapel, Tobias Schwerd, Laurent Siproudhis, Michela Schäppi, Ali Al-Ahmari, Masaaki Mori, Akiko Yamaide, Lionel Galicier, Bénédicte Neven, John Routes, Holm H Uhlig, Sibylle Koletzko, Smita Patel, Hirokazu Kanegane, Capucine Picard, Alain Fischer, Nadine Cerf Bensussan, Frank Ruemmele, Jean-Pierre Hugot, Sylvain Latour. Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers. J. Allergy Clin. Immunol.. 2014.11; 134 (5): 1131-1141.e9. ( PubMed, DOI )

Ataru Igarashi, Hirokazu Kanegane, Midori Kobayashi, Toshio Miyawaki, Kiichiro Tsutani. Cost-minimization Analysis of IgPro20, a Subcutaneous Immunoglobulin, in Japanese Patients With Primary Immunodeficiency. Clin Ther. 2014.11; 36 (11): 1616-1624. ( PubMed, DOI )

Akihiro Hoshino, Keiko Nomura, Kyo Noguchi, Hirokazu Kanegane. Relapsed leukemia without peripheral blood abnormalities and clinical symptoms detected on MRI. Pediatr Int. 2014.10; 56 (5): 798. ( PubMed, DOI )

M Mizawa, T Makino, O Norisugi, H Hara, K Shimizu, K Nomura, H Kanegane, T Nojima, T Shimizu. Primary cutaneous Ewing sarcoma following metastasis to the bone and lymph nodes. Br. J. Dermatol.. 2014.09; 171 (3): 660-662. ( 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 )

Kazuhiro Kogawa, Hiroki Sato, Takeshi Asano, Shouichi Ohga, Kazuko Kudo, Akira Morimoto, Shigeru Ohta, Hiroshi Wakiguchi, Hirokazu Kanegane, Megumi Oda, Eiichi Ishii. Prognostic factors of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children: report of the Japan Histiocytosis Study Group. Pediatr Blood Cancer. 2014.07; 61 (7): 1257-1262. ( PubMed, DOI )

Menno C van Zelm, Sophinus J W Bartol, Gertjan J Driessen, Françoise Mascart, Ismail Reisli, Jose L Franco, Beata Wolska-Kusnierz, Hirokazu Kanegane, Louis Boon, Jacques J M van Dongen, Mirjam van der Burg. Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation. J. Allergy Clin. Immunol.. 2014.07; 134 (1): 135-144. ( PubMed, DOI )

Monica Yabal, Nicole Müller, Heiko Adler, Nathalie Knies, Christina J Groß, Rune Busk Damgaard, Hirokazu Kanegane, Marc Ringelhan, Thomas Kaufmann, Mathias Heikenwälder, Andreas Strasser, Olaf Groß, Jürgen Ruland, Christian Peschel, Mads Gyrd-Hansen, Philipp J Jost. XIAP restricts TNF- and RIP3-dependent cell death and inflammasome activation. Cell Rep. 2014.06; 7 (6): 1796-1808. ( PubMed, DOI )

Satoru Kobayashi, Tomohiko Taki, Hisao Nagoshi, Yoshiaki Chinen, Yuichi Yokokawa, Hirokazu Kanegane, Yosuke Matsumoto, Junya Kuroda, Shigeo Horiike, Kazuhiro Nishida, Masafumi Taniwaki. Identification of novel fusion genes with 28S ribosomal DNA in hematologic malignancies. Int. J. Oncol.. 2014.04; 44 (4): 1193-1198. ( PubMed, DOI )

Masaki Shimizu, Mondo Kuroda, Natsumi Inoue, Michio Konishi, Noboru Igarashi, Hiromichi Taneichi, Hirokazu Kanegane, Mika Ito, Shigeru Saito, Akihiro Yachie. Extensive serum biomarker analysis in patients with enterohemorrhagic Escherichia coli O111-induced hemolytic-uremic syndrome. Cytokine. 2014.03; 66 (1): 1-6. ( PubMed, DOI )

Hirokazu Kanegane, Kohsuke Imai, Masafumi Yamada, Hidetoshi Takada, Tadashi Ariga, Martin Bexon, Mikhail Rojavin, Wilson Hu, Midori Kobayashi, John-Philip Lawo, Shigeaki Nonoyama, Toshiro Hara, Toshio Miyawaki. Efficacy and safety of IgPro20, a subcutaneous immunoglobulin, in Japanese patients with primary immunodeficiency diseases. J. Clin. Immunol.. 2014.02; 34 (2): 204-211. ( PubMed, DOI )

Satoshi Horino, Yoji Sasahara, Miki Sato, Hidetaka Niizuma, Satoru Kumaki, Daiki Abukawa, Atsushi Sato, Masue Imaizumi, Hirokazu Kanegane, Yoshiro Kamachi, Shinya Sasaki, Kiminori Terui, Etsuro Ito, Ichiro Kobayashi, Tadashi Ariga, Shigeru Tsuchiya, Shigeo Kure. Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome. Pediatr Transplant. 2014.02; 18 (1): E25-E30. ( PubMed, DOI )

Taizo Wada, Hirokazu Kanegane, Kazuhide Ohta, Fumiyo Katoh, Toshihiko Imamura, Yozo Nakazawa, Ritsuko Miyashita, Junichi Hara, Kazuko Hamamoto, Xi Yang, Alexandra H Filipovich, Rebecca A Marsh, Akihiro Yachie. Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency. Cytokine. 2014.01; 65 (1): 74-78. ( PubMed, DOI )

Akihiro Hoshino, Masaki Shimizu, Hiroyoshi Matsukura, Hisano Sakaki-Nakatsubo, Keiko Nomura, Toshio Miyawaki, Hirokazu Kanegane. Allogeneic bone marrow transplantation appears to ameliorate IgA nephropathy in a patient with X-linked thrombocytopenia. J. Clin. Immunol.. 2014.01; 34 (1): 53-57. ( PubMed, DOI )

Akihiro Hoshino, Keiko Nomura, Hirokazu Kanegane. Graft versus tumor effect against neuroblastoma: a case report with long-term survival and a review of the literature Journal of Hematopoietic Cell Transplantation. 2014; 3 (3): 97-101. ( 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 )

Keiko Yamagami, Tomoko Miyashita, Tomoyuki Nakamura, Michinori Shirano, Tadahiro Nakamura, Kazuaki Kameda, Masayoshi Nishijima, Masahiro Imanishi, Xi Yang, Hirokazu Kanegane. Campylobacter fetus bacteremia with purulent pleurisy in a young adult with primary hypogammaglobulinemia. Intern. Med.. 2014; 53 (11): 1221-1225. ( PubMed )

Shu Hisata, H Sakaguchi, H Kanegane, T Hidaka, M Ichinose, S Kojima, T Nukiwa, M Ebina. A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis. Sarcoidosis Vasc Diffuse Lung Dis. 2013.10; 30 (3): 221-225. ( PubMed )

Hirokazu Kanegane. NK cell assays. APSID 2023 2023.10.26 Singapore

Hirokazu Kanegane. Diagnosis and Management of Primary Atopic Disorder. APAAACI 2023 2023.10.25 Singapore

Hirokazu Kanegane. Rare diseases presenting with hemophagocytic lymphohistiocytosis. IEI SCAC 2023 2023.09.15 重慶

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. ICBMT2023 2023.09.01 Busan

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 神奈川

Hirokazu Kanegane. HLH associated with inborn errors of metablism and familial hemophagocytic lymphohistiocytosis in adult. 2nd National Congress of Inborn Errors of Immunity and National Forum on Pediatric Immunology (IEI China 2023 and FOPI) 2023.04.26 Web開催

Mahnaz Jamee, Hirokazu Kanegane. Lung Surgery in STAT3 loss-of-function mutation: is it advisable?. APSID 2023 2023.04.22 香港

Hirokazu Kanegane. Advanced therapies: The future of BMT in Asia. IPOPI 4th Regional Asian PID Meeting 2022.11.19 Kuala Lumpur

Hirokazu Kanegane. Finding NEMO. The 1st National IEI Congress of China 2022 2022.11.12 Web開催

Hirokazu Kanegane. Hematopoietic stem cell transplantation for PID. 17th Congress of Asian Society for Pediatric Research (ASPR 2022) 2022.09.17 Web開催

Hirokazu Kanegane. A B-Cell Deficient Japanese Girl with ZIP7 Deficiency Caused by Novel Compound Heterozygous Variants in SLC39A7. 13th International Congress of Immunodeficiency Diseases 2022.04.24 Web開催

Hirokazu Kanegane. ALPS & ALPS-like and IPEX & IPEX-like. . 4th Asia-Pacific Society for Immunodeficiencies Congress 2022.04.02 Web開催

Hirokazu Kanegane. An Approach to Antibody Deficencies.. 4th Asia-Pacific Society for Immunodeficiencies Congress 2022.04.01 Web開催

Hirokazu Kanegane. Updates in Primary antibody deficiencies. 16th Congress of Asian Society for Pediatric Research (ASPR 2021) 2021.12.11 Web開催

Hirokazu Kanegane. Tips of hematopoietic cell transplantation for inborn errors of immunity. Chinese PID Summer School 2021 2021.09.25 Web開催

Hirokazu Kanegane. Revisiting X-linked agammaglobulinemia. 12th International Congress of Immunodeficiency Diseases(ICID) 2021.04.27 Web開催

Akihiro Hoshino, Yuya Koda, Jun Kato, Kay Tanita, Hirokazu Kanegane . A plastic anemia as an initial manifestation in a patient with SAP deficiency. The 27th Annual Meeting of the Japan Childhood Aplastic Anemia Study Group 2020.11.08 Web開催

K. Tanita, F. Sakura, M. Tsumura, H. Ohnishi, A. Hoshino, K. Suzuki, S. Okada, R. Nambu, S. Umetsu, K. Imai, T. Morio, H. Kanegane. 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

Yoonsun Yoon, Ji-man Kang, Junsik Choi, Kangmo Ahn, Keon Hee Yoo, Eun-Suk Kang, Kyoung-Mee Kim, Jung Eun Lee, Geum-Youn gawk, Kihyun Kim, Kosuke Imai, Hirokazu Kanegane, Yae-jean Kim. Cancer development in a Korean family with CTLA-4 haploinsufficiency. The 3rd Annual Scientific Meeting of the Japanese Society for Immunodeficiency and Autoinflammatory Diseases (JSIAD) 2020.02.16 東京

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.

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

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 Biennial 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 Biennial Meeting of the European Society of Immunodeficiencies (ESID2019) 2019.09.20 Brussels

Honda Y, Yasumi T, Miyamoto T, Nishitani M, Nihira H, Shiba T, Shibata H, Tanaka T, Kanda K, Izawa K, Kanegane H, Heike T, Takita J, Nishikomori R.. A CTLA-4 Haploinsufficiency Case with Multiple Brain and Pulmonary Lesions - Dilemmas in Management. 19th Biennial Meeting of the European Society of Immunodeficiencies (ESID2019). 2019.09.20 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 Biennial Meeting of the European Society of Immunodeficiencies (ESID2019) 2019.09.19

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 Biennial Meeting of the European Society of Immunodeficiencies (ESID2019) 2019.09.19 Brussels

Kanegane H. Revisit X-linked agammaglobulinemia. 2019 Samsung Medical Center Primary Immunodeficiency Symposium. 2019.07.06 Seoul

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

Yeh TW, Okano T, Okamoto K, Yamashita M, Takashima T, Mitsuiki N, Okada S, Kanegane H, Imai . APRIL deficiency as a cause of common variable immunodeficiency. 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

Yamada Y, Cho K, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T. Heterozygous mutations in OAS1 cause infantile-onset pulmonary alveolar proteinosis with hypogammaglobulinemia. 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

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

Kanegane H.. Modification of cellular and humoral immunity by somatically reverted T cells in XLP1. XLP Symposium 2018. 2018.10.29 London

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

Kanegane H. Epstein-Barr related Primary Immunodeficiency. CME Lecture 2018.05.21 Singapore

Kanegane H. Chronic Active Epstein-Barr Virus & Epstein-Barr Virus associated with Haemophagocytic Lymphohistiocytosis. CME Lecture 2018.05.21 Singapore

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

Kanegane H. EBV associated PID. The 2nd APSID Scientific Congress 2018.05.07 Chonquing, China

Kanegane H. Management of HLH and XLP. APSID 2018 Summer School 2018.05.07 Chonquing, China

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. Whole exome sequence analysis using the known and candidate genes for primary immunodeficiency diseases. The 2nd APSID Scientific Congress 2018.05.07 Chonquing, China

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

Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T. A New Type of Primary Immunodeficiency with Pulmonary Alveolar Proteinosis due to OAS1 Dysfunction. 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

Kanegane H. Recent advances in primary antibody immunodeficiency and immunoglobulin replacement therapy. 21th Congress of Chinese Pediatric Society 2016.10 Zhuhai, PRC

Kanegane H, Hoshino A, Takashima T, Yeh T-W, Okano T, Yamashita M, Imai K, Morio T. . Selective dysregulation of Epstein Barr virus infection in hypomorphic ZAP70 mutation. XLP-WAS 2016 Symposium-London 2016.09.26 London, UK

Ono S, Okano T, Hoshino A, Yanagimachi M, Takagi M, Imai K, Morio T, Kanegane H. Hematopoietic　stem　cell　transplantation for XIAP deficiency. XLP-WAS 2016 Symposium-London 2016.09.26 London, UK

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

Rojavin M, Kanegane H, Borte H, Imai K, Hubsch A, Jolles S.. Analysis of Patient Treatment Satisfaction from Five Studies of HIZENTRA 20% Subcutaneous Immunoglobulin. 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. I <kappa> B-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

Jolles S, Rojavin M, Nelson Jr. R, Wasserman R.L, Borte M, Kanegane H, Imai K.. Efficacy and Safety of HIZENTRA in Patients with Primary Immunodeficiency in Japan, Europe, and the US. 17th Biennial Meeting of17th Biennial Meeting of the European Society for Immunodeficiencies 2016.09.23 Barcelona, Spain

Schwab C, Gabrysch A, Hoshino M, Slatter M, Hayakawa S, Schubert D, Klemann C, Frede N, Salzer U, Speckmann C, Freiberger T, Lorenz H.M, Hauck F, Klobuch S, Zeissig S, Leichtner A, Van de Veerdonk F, Elemnto O, Giulino-Roth L, Duckers G, Niehues T, Alsina L, Deya-Martinez A, Kanderiva V, Fronkova E, Price C, Patino V, Blumberg R, Yesim Kucuk Z, Seneviratne S, Kanariou M, Lougaris V, Albert M, Giese T, Litzman J, Ehl S, Okada S, Imai K, Dybedai I, Tasken K, Wolff D, Warnatz K, Hambleton S, Arkwright P, Cant A, Kanegane H, Grimbacher B.. The Clinical Spectrum and Treatment Options of 82 Individuals with CTLA-4Deficiency. 17th Biennial Meeting of the European Society for Immunodeficiency 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

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 PI3 Kinase Delta Syndrome (APDS)-Like Immunodeficiency Caused by PTEN Mutation. 17th Biennial Meeting of the European Society for Immunodeficiencies 2016.09.22 Barcelona, Spain

Kanegane H. Immunoglobulin Replacement for Agammaglobulinemia – Intravenous or Subcutaneous?. ASPID Spring School 2016.05.01 HongKong

Okano T, Imai K, Tsujita Y, Mitsuiki, Mitsui-Sekinaka K, Takashima T, Kanegane H, Nonoyma S. Broad Spectrum of Clinical Manifestations and Outcome of Hematopoietic Stem Cell Transplantation in Japanese Patients with Activated P13KD Syndrome Type1. ASPID Spring School 2016.05.01 Hong Kong

Kanegane H. Use of Flow Cytometry in PID diagnosis.. APSID Spring School 2016.04.28 Hong Kong

Mikhail Rojavin, Hirokazu Kanegane, Michael Borte, Imai k , Alphonse P. Hubsch, Helena Soop, Stephen R. Jolles. Pooled Analysis of Patient Treatment Satisfaction from Five Hizentra Studies. 2016 AAAAI ANNUAL MEETING 2016.03.04 Los Angeles

Hirokazu Kanegane. XLP (X-linked lympho proliferative syndrome) and Epstein-Barr virus infection.. V Simpósio Internacional de Immunodeficiências Primárias—SIDEP, 5 2015.05.20

Ogashiwa T, Kunisaki R, Yasuhara H, Tsuda S, Koh R, Yazawa K, Gotoh K, Kimura H, Sugita A, Mori M, Tanaka M, Kanegane H, Maeda S. Clinical, Morphological and Histological Features of X-linked Lymphoproliferative Syndrome Type 2 Enteritis Diagnosed in three Cases with Childhood Onset Inflammatory Bowel Disease. 10th Congress of ECCO - Inflammatory Bowel Diseases. 10th Congress of ECCO - Inflammatory Bowel Diseases 2015.02.18 Barcelona

Kanegane H. Whole exome sequencing reveals atypical phenotype of X-linked lymphoproliferative syndrome.. A symposium for researchers and clinicians on XLP WAS 2014.11.03 London, UK

Yang X, Nishida N, Hoshino A, Goi K, Kanzaki T, Yoshida K, Muramatsu H, Ogawa S, Kojima S, Kanegane H. X-linked dysgammaglobulinemia associated with somatically reverted memory T cells in a family with X-linked lymphoproliferative syndrome type 1. 16th Biennial Meeting of the European Society of Immunodeficiencies 2014.10 Prague, Czech Rep

Hoshino A, Okuno Y, Migita M, Ban H, Yang X, Kiyokawa N, Kojima S, Ohara O, Kanegane H. B-precursor acute lymphoblastic leukemia in a patient with X-linked agammaglobulinemia. 16TH Biennial Meeting of the European Society of Immunodeficiencies 2014.10

Mitsuiki N, Yang X, Bartol S, Kosaka Y, Takada H, Imai K, Kanegane H, Mizutani S, Van der Burg M, Van Zelm M, Ohara O, Morio T. Mutations in Bruton’s tyrosine kinase impair IgA responses. 16th Biennial Meeting of the European Society of Immunodeficiencies 2014.10 Prague, Czech Rep

Takashima T, Tsujita Y, Yeh T.W, Mitsuiki N, Kanegane H, Kracker S, Durandy A, Nonoyama S, Morio T, Imai K. Clinical and immunological features of patients with Gain-of-Function PIK3CD mutations in Japan. 16th Biennial Meeting of the European Society of Immunodeficiencies 2014.10 Prague, Czech Rep

Kanegane H, Imai K, Yamada M, Takada H, Ariga T, Hara T, Rojavin M, Hu W, Hubsch A, Nonoyama S. Safety and tolerability of hizentra in patients with primary immunodeficiency in Japan, Europe and the US. 16th Biennial Meeting of the European Society of Immunodeficiencies 2014.10 Prague, Czech Rep

Nishida N, Yang X, Hoshino A, Kanegane H. Inflammatory bowel disease in Japanese patients with xiap deficiency. 16th Biennial Meeting of the European Society of Immunodeficiencies 2014.10 Prague, Czech Rep

Aguilar C, Lenoir C, Lambert N, Begue B, Brousse N, Canioni D, Berrebi D, Roy M, Gerart S, Chapel H, Schwerd T, Siproudhis L, Schappi M, Al-Ahmari A, Yamaide A, Mori M, Galicier L, Neven B, Routes J, Ulhig H, Koletzko S, Patel S, Kanegane H, Picard C, Fischer A, Cerf Bensussan N, Ruemmele F, Hugot J.P, Latour S. Characterization of crohn disease in X-linked inhibitor of apoptosis protein-deficient male patients and female symptomatic carriers. 16th Biennial Meeting of the European Society of Immunodeficiencies 2014.10 Prague, Czech Rep