論文・総説 - 金兼　弘和

21. Tamaru T, Katayama R, Momokino J, Maruoka Y, Ueda A, Kanegane H, Wada T, Bukhari STA, Banday AZ, Akagi T. . Genotype-phenotype correlations in specific granule deficiency: loss of DNA-binding ability and impaired nuclear localization cause severe manifestations due to the c.655_665del CEBPE variant. Clin Exp Immunol. 2025.01; 219 (1): 100514. ( PubMed, DOI )

22. Condino-Neto A, Korganow AS, Kanegane H. . Editorial: Community series in primary immunodeficiencies worldwide, volume II. Front Immunol. 2025; 16 1564959. ( PubMed, DOI )

23. 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 )

24. 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 )

25. Nishikawa T, Tomomasa D, Hijikata A, Kasabata H, Okamoto Y, Ochs HD, Kanegane H. . Arg203Ile variant underlies atypical phenotype of X-linked hyper IgM syndrome. Front Immunol. 2025; 16 (1): 1572791. ( PubMed, DOI )

26. Morimoto M, Nishikawa T, Hijikata A, Kasabata H, Maeda N, Kanmura S, Horikawa S, Nagahama J, Nakamura A, Nakamura T, Abematsu T, Nakagawa S, Shimura K, Narumi S, Kanegane H, Okamoto Y.. Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis. Front Immunol. 2025; 16 (10): 1644552. ( PubMed, DOI )

27. Yamaguchi T, Kajiho Y, Tanaka H, Kinumaki A, Kanda S, Kamiya T, Kanegane H.. Invasive pneumococcal infection after allogeneic hematopoietic cell transplantation for NEMO deficiency. Pediatr Int. 2025; 67 (1): e70125. ( PubMed, DOI )

28. Shiraki M, Kadowaki S, Miwa Y, Nishimura K, Maruyama Y, Kishida D, Imagawa K, Kobayashi C, Takada H, Mitsunaga K, Inoue Y, Ebato T, Miyamoto T, Hiejima E, Sato S, Migita K, Matsubayashi T, Kobayashi D, Hasegawa E, Kaneko U, Ishikawa T, Onodera M, Matsushita K, Koike Y, Umebayashi H, Kakuta F, Abukawa D, Funakoshi Y, Ishimura M, Otani Y, Nishizawa T, Ishige T, Hatori R, Tanaka S, Kusunoki S, Nakamura K, Shirai H, Hatai Y, Miyaoka F, Kaneko S, Shimbo A, Shimizu M, Kanegane H, Hashimoto M, Negoro N, Yoshida T, Wada Y, Usami M, Wada T, Izawa K, Yasumi T, Nishikomori R, Ohnishi H. . Clinical characteristics and treatment strategies for A20 haploinsufficiency in Japan: a national epidemiological survey. Front Immunol. 2025; 16 (1): 1548042. ( PubMed, DOI )

29. Nishimura M, Tomomasa D, Suzuki R, Miyaoka F, Kanegane H.. Case Report: Preserved umbilical cords underscore family histories of inborn errors of immunity. Front Immunol. 2025; 16 1605857. ( PubMed, DOI )

30. Xiong L, Zhao Q, Zhao Q, Zhang Z, An Y, Tang X, Kanegane H, Yang X, Zhao X. . Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia. Front Immunol. 2025; 16 1628507. ( PubMed, DOI )

31. Ayami Ohya, Dan Tomomasa, Fumiaki Sakura, Takaki Asano, Atsuko Arisaka, Takumi Akashi, Menno C van Zelm, Tomohiro Morio, Satoshi Okada, Hirokazu Kanegane. A case of primary ciliary dyskinesis with DRC1 deletion and literature review: Additional evidence on the founder effect. Pediatr Int. 2024.12; 66 (1): e15808. ( PubMed, DOI )

32. Hitoshi Irabu, Shuya Kaneko, Futaba Miyaoka, Dan Tomomasa, Asami Shimbo, Akira Nishimura, Takahiro Kamiya, Takeshi Isoda, Hirokazu Kanegane, Masaki Shimizu. Yang and Ying of ruxolitinib administration for macrophage activation syndrome complicated by systemic juvenile idiopathic arthritis. Rheumatology (Oxford). 2024.12; ( PubMed, DOI )

33. 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.

34. Shiro Beppu, Takuro Nishikawa, Dan Tomomasa, Atsushi Hijikata, Hiroshi Kasabata, Hideyuki Terazono, Kazuro Ikawa, Tatsuro Nakamura, Shogo Horikawa, Jun Nagahama, Aki Nakamura, Takanari Abematsu, Shunsuke Nakagawa, Kaoru Oketani, Hirokazu Kanegane, Yasuhiro Okamoto. Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant Front Immunol. 2024.11; 15 1478411. ( PubMed, DOI )

35. emura Y, Yamamoto M, Ishimura M, Kanegane H, Sawada A, Hirakawa A, Imadome KI, Yoshimori M, Nagata M, Yamamoto K, Shimizu N, Koike R, Arai A.. JAK1/2 inhibitor ruxolitinib for the treatment of systemic chronic active Epstein-Barr virus disease: a phase 2 study. Blood Neoplasia .. 2024.11;

36. 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 )

37. 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 )

38. 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 )

39. Jun Sakuma, Akihiro Hoshino, Hisashi Fujiwara, Taichi Ogou, Kenro Kawada, Keisuke Okuno, Toshiro Tanioka, Shigeo Haruki, Masanori Tokunaga, Yusuke Kinugasa. Blood flow assessment of gastric tube with indocyanine green fluorescence angiography and postoperative endoscopy during esophagectomy: indocyanine green enhancement time indicated congestion. BMC Gastroenterol. 2024.09; 24 (1): 316. ( PubMed, DOI )

40. Takanori Utsumi, Miyuki Tsumura, Masato Yashiro, Zenichiro Kato, Kosuke Noma, Fumiaki Sakura, Reiko Kagawa, Yoko Mizoguchi, Shuhei Karakawa, Hidenori Ohnishi, Charlotte Cunningham-Rundles, Peter D Arkwright, Masao Kobayashi, Hirokazu Kanegane, Dusan Bogunovic, Bertrand Boisson, Jean-Laurent Casanova, Takaki Asano, Satoshi Okada. Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency. J Clin Immunol. 2024.08; 44 (8): 178. ( PubMed, DOI )