論文・総説 - 金兼　弘和

41. 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 )

42. 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 )

43. 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;

44. 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 )

45. 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 )

46. 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. 2023.09; 14 1244250. ( PubMed, DOI )

47. 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 )

48. 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 )

49. 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 )

50. 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 )

51. 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 )

52. 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 )

53. 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 )

54. 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 )

55. 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 )

56. 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 )

57. 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 )

58. 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 )

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

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