論文・総説 - 森尾　友宏

1. Ayako Kashimada, Tomoko Mizuno, Eriko Tanaka, Susumu Hosokawa, Tomohiro Udagawa, Yuichi Hiraoka, Keisuke Uchida, Tomohiro Morio, Kenjiro Kosaki, Masatoshi Takagi. De novo variant in RING finger protein 213 causes systemic vasculopathy. JCI Insight. 2025.06; 10 (11): e190094. ( PubMed, DOI )

2. Hiroshi Nihira, Daisuke Nakajima, Kazushi Izawa, Yusuke Kawashima, Hirofumi Shibata, Ryo Konno, Motoko Higashiguchi, Takayuki Miyamoto, Masahiko Nishitani-Isa, Eitaro Hiejima, Yoshitaka Honda, Tadashi Matsubayashi, Takashi Ishihara, Masato Yashiro, Naomi Iwata, Yoko Ohwada, Seiichi Tomotaki, Masahiko Kawai, Kosaku Murakami, Hidenori Ohnishi, Masataka Ishimura, Satoshi Okada, Motoi Yamashita, Tomohiro Morio, Akihiro Hoshino, Hirokazu Kanegane, Kohsuke Imai, Yasuko Nakamura, Shigeaki Nonoyama, Toru Uchiyama, Masafumi Onodera, Takashi Ishikawa, Toshinao Kawai, Junko Takita, Ryuta Nishikomori, Osamu Ohara, Takahiro Yasumi. Dried blood spot proteome identifies subclinical interferon signature in neonates with type I interferonopathy. J Allergy Clin Immunol. 2025.05; ( PubMed, DOI )

3. Gakushi Eguchi, Miki Murakoshi, Futaba Miyaoka, Asami Shimbo, Hitoshi Irabu, Toru Kanamori, Tomohiro Udagawa, Tomohiro Morio, Masaki Shimizu. Acute tubulointerstitial nephritis following coronavirus disease 2019 mRNA vaccination: a pediatric case report. CEN Case Rep. 2025.04; 14 (2): 261-265. ( PubMed, DOI )

4. Yuriko Sugiura, Takahiro Ando, Hirokazu Urushiyama, Akihisa Mitani, Goh Tanaka, Kenichi Kashimada, Tomohiro Morio, Hidenori Kage. GATA2 Deficiency With Early-Onset and Progressive Interstitial Lung Disease. Respirol Case Rep. 2025.04; 13 (4): e70165. ( PubMed, DOI )

5. Takuji Itakura, Hirokazu Sasaki, Tadashi Hosoya, Natsuka Umezawa, Tetsuya Saito, Hideyuki Iwai, Hisanori Hasegawa, Hiroyuki Sato, Akihiro Hirakawa, Kohsuke Imai, Tomohiro Morio, Naoki Kimura, Shinsuke Yasuda. The role of TRECs/KRECs as immune indicators that reflect immunophenotypes and predict the risk of infection in systemic autoimmune diseases. Immunol Med. 2025.02; 1-12. ( PubMed, DOI )

6. Dan Tomomasa, Kay Tanita, Yuriko Hiruma, Akihiro Hoshino, Ko Kudo, Shohei Azumi, Mitsutaka Shiota, Masayoshi Yamaoka, Katsuhide Eguchi, Masataka Ishimura, Yuka Tanaka, Keiji Iwatsuki, Keisuke Okuno, Asahito Hama, Ken-Ichi Sakamoto, Takashi Taga, Kimitoshi Goto, Haruka Ota, Akihiro Ichiki, Kaori Kanda, Takako Miyamura, Saori Endo, Hidenori Ohnishi, Yoji Sasahara, Ayako Arai, Benjamin Fournier, Ken-Ichi Imadome, Tomohiro Morio, Sylvain Latour, Hirokazu Kanegane. Correction: Highly sensitive detection of Epstein-Barr virus-infected cells by EBER flow FISH. Int J Hematol. 2025.02; 121 (2): 284-285. ( PubMed, DOI )

7. Kento Inoue, Dan Tomomasa, Yu Nakagama, Hiroaki Takeuchi, Yukie Tanaka, Kousuke Tanimoto, Takahiro Kamiya, Takeshi Isoda, Masatoshi Takagi, Keisuke Tanaka, Kota Yoshifuji, Yuki Miwa, Hidenori Ohnishi, Satoshi Okada, Takehiko Mori, Shinsuke Yasuda, Yasutoshi Kido, Tomohiro Morio, Hirokazu Kanegane. Real-world experience of tixagevimab/cilgavimab prophylaxis in Japanese patients with immunodeficiency. J Infect Chemother. 2025.02; 31 (2): 102577. ( PubMed, DOI )

8. Dan Tomomasa, Madoka Nishimura, Ayami Ohya, Kay Tanita, Ryosuke Wakatsuki, Ryohei Watanabe, Satoshi Miyamoto, Akihiro Hoshino, Takahiro Kamiya, Takeshi Isoda, Shuya Kaneko, Masaki Shimizu, Atsushi Hijikata, Katsuhide Eguchi, Masataka Ishimura, Yukako Maeda, Kazushi Izawa, Takaaki Meguro, Kosuke Fujimoto, Etsuko Ishikita-Murayama, Kyogo Suzuki, Eri Okura, Tomoko Uehara, Tomotada Takayama, Satoshi Okada, Masatoshi Takagi, Tomohiro Morio, Rebecca A Marsh, Hirokazu Kanegane. Comprehensive flow cytometry-based diagnosis of XIAP deficiency. Clin Exp Immunol. 2025.01; 219 (1): uxaf020. ( PubMed, DOI )

9. Yuko Akutsu, Mineto Ota, Takahiro Itamiya, Masaaki Mori, Tomohiro Morio, Kazuhiko Yamamoto, Tomohisa Okamura, Keishi Fujio. Effect of Epstein-Barr Virus infection on gene regulation in immune cells of patients with Immune-Mediated Diseases. J Autoimmun. 2025.01; 150 103355. ( PubMed, DOI )

10. Dan Tomomasa, Masatoshi Takagi, Ryohei Watanabe, Ryosuke Wakatsuki, Satoshi Miyamoto, Akihiro Hoshino, Takahiro Kamiya, Takeshi Isoda, Anju Kobayashi, Kenjiro Kosaki, Fumiaki Sakura, Takaki Asano, Toru Uchiyama, Satoshi Okada, Tomohiro Morio, Hirokazu Kanegane. Prolonged diagnostic journey in delayed-onset adenosine deaminase deficiency. Clin Immunol. 2025.01; 270 110405. ( PubMed, DOI )

11. Haruka Hiroki, Kunihiko Moriya, Toru Uchiyama, Fumi Hirose, Akifumi Endo, Iori Sato, Yasuhiro Tomaru, Kazumi Sawakami, Norio Shimizu, Hidenori Ohnishi, Tomohiro Morio, Kohsuke Imai. A high-throughput TREC- and KREC-based newborn screening for severe inborn errors of immunity. Pediatr Int. 2025; 67 (1): e15872. ( PubMed, DOI )

12. Ikuo Okuchi, Akira Nishimura, Takahiro Kamiya, Makiko Sasaki, Motoi Yamashita, Akihiro Hoshino, Michiko Kajiwara, Takeshi Isoda, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi. Monitoring measurable residual disease in NUP98::NSD1-positive acute myeloid leukemia. Pediatr Int. 2025; 67 (1): e15859. ( PubMed, DOI )

13. Tamaki Kato, Yumi Ogura, Chikako Kamae, Tzu-Wen Yeh, Tsubasa Okano, Junya Take, Kanako Mitsui-Sekinaka, Kunihiko Moriya, Janine Reichenbach, Pandiarajan Vignesh, Amit Rawat, Surjit Singh, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio, Osamu Ohara, Kohsuke Imai, Shigeaki Nonoyama. Centralized rapid genetic diagnosis of combined immunodeficiency in Japan. Pediatr Int. 2025; 67 (1): e70085. ( PubMed, DOI )

14. Tomoko Mizuno, Nobutoshi Nawa, Aya Isumi, Satomi Doi, Tomohiro Morio, Takeo Fujiwara. Association between COVID-19 pandemic and school refusal among elementary school children in Japan: difference-in-differences analysis. Front Public Health. 2025; 13 1466209. ( PubMed, DOI )

15. Kazuki Okuyama, Motoi Yamashita, Artemis Koumoundourou, Christoph Wiegreffe, Michiko Ohno-Oishi, Samuel J H Murphy, Xin Zhao, Hideyuki Yoshida, Takashi Ebihara, Naoko Satoh-Takayama, Satoshi Kojo, Hiroshi Ohno, Tomohiro Morio, Yibo Wu, Jennifer Puck, Hai-Hui Xue, Stefan Britsch, Ichiro Taniuchi. A mutant BCL11B-N440K protein interferes with BCL11A function during T lymphocyte and neuronal development. Nat Immunol. 2024.12; 25 (12): 2284-2296. ( PubMed, DOI )

16. Hoshino A, Takagi M, Bousset K, Röddecke J, Redeker HL, Folcut I, Tomomasa D, Kobayashi J, Yang X, Sakata N, Yoshida K, Miyano S, Ogawa S, Kojima S, Morio T, Dork T, Kanegane H. Bone marrow failure and immunodeficiency associated with human RAD50 variants. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024.12; 32 1431-1432.

17. Yuri Suzuki, Ryosei Iemura, Akito Sutani, Yuki Mizuno, Eriko Adachi, Mineko Ushiama, Teruhiko Yoshida, Makoto Hirata, Akihiro Hoshino, Kurara Yamomoto, Takumi Akashi, Yoshiko Nakano, Takeshi Isoda, Kei Takasawa, Motohiro Kato, Masatoshi Takagi, Kentaro Okamoto, Tomohiro Morio, Kenichi Kashimada. Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL Clin Pediatr Endocrinol. 2024.10; 33 (4): 229-237. ( PubMed, DOI )

18. Hirofumi Shibata, Daisuke Nakajima, Ryo Konno, Atsushi Hijikata, Motoko Higashiguchi, Hiroshi Nihira, Saeko Shimodera, Takayuki Miyamoto, Masahiko Nishitani-Isa, Eitaro Hiejima, Kazushi Izawa, Junko Takita, Toshio Heike, Ken Okamura, Hidenori Ohnishi, Masataka Ishimura, Satoshi Okada, Motoi Yamashita, Tomohiro Morio, Hirokazu Kanegane, Kohsuke Imai, Yasuko Nakamura, Shigeaki Nonoyama, Toru Uchiyama, Masafumi Onodera, Ryuta Nishikomori, Osamu Ohara, Yusuke Kawashima, Takahiro Yasumi. A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity. J Clin Immunol. 2024.10; 45 (1): 33. ( PubMed, DOI )

19. Takahiro Tomoda, Akira Nishimura, Takahiro Kamiya, Kumi Inoue, Harutaka Katano, Shun Iida, Akihiro Hoshino, Takeshi Isoda, Kohsuke Imai, Michiko Kajiwara, Masatoshi Takagi, Hirokazu Kanegane, Nozomu Hanaoka, Tomohiro Morio. Immune reconstitution and cidofovir administration rescue human adenovirus hepatitis after allogeneic hematopoietic cell transplantation. Transpl Immunol. 2024.10; 86 102093. ( PubMed, DOI )

20. Dan Tomomasa, Tasuku Suzuki, Ichiro Takeuchi, Kimitoshi Goto, Shin-Ichiro Hagiwara, Dai Keino, Satoshi Saida, Takashi Ishige, Takahiro Kudo, Katsuhide Eguchi, Masataka Ishimura, Yusuke Matsuda, Taizo Wada, Yoshiya Ito, Motohiro Kato, Yoji Sasahara, Tomohiro Morio, Katsuhiro Arai, Holm H Uhlig, Hirokazu Kanegane. Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan. J Clin Immunol. 2024.09; 45 (1): 6. ( PubMed, DOI )