論文・総説 - 金兼　弘和

21. 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 )

22. Tanja C Vallée, Jannik S Glasmacher, Hannes Buchner, Peter D Arkwright, Uta Behrends, Anastasia Bondarenko, Michael J Browning, David Buchbinder, Alessandro Cattoni, Liudmyla Chernyshova, Peter Ciznar, Theresa Cole, Wojciech Czogała, Gregor Dueckers, John David M Edgar, Fatih Erbey, Anders Fasth, Francesca Ferrua, Renata Formankova, Eleonora Gambineri, Andrew R Gennery, Frederick D Goldman, Luis I Gonzalez-Granado, Carsten Heilmann, Tarja Heiskanen-Kosma, Hanna Juntti, Leena Kainulainen, Hirokazu Kanegane, Neslihan E Karaca, Sara S Kilic, Christoph Klein, Sylwia Kołtan, Irina Kondratenko, Isabelle Meyts, Gulnara M Nasrullayeva, Lucia D Notarangelo, Srdjan Pasic, Isabelle Pellier, Claudio Pignata, Siraj Misbah, Ansgar Schulz, Gesmar R Segundo, Anna Shcherbina, Mary Slatter, Robert Sokolic, Pere Soler-Palacin, Polina Stepensky, Joris M van Montfrans, Samppa Ryhänen, Beata Wolska-Kuśnierz, John B Ziegler, Xiaodong Zhao, Alessandro Aiuti, Hans D Ochs, Michael H Albert. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival. Blood. 2024.06; 143 (24): 2504-2516. ( PubMed, DOI )

23. 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 )

24. 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 )

25. 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 )

26. 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 )

27. 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 )

28. 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 )

29. 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 )

30. 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 )

31. 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 )

32. 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 )

33. 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 )

34. 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 )

35. 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 )

36. 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 )

37. 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 )

38. 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 )

39. 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 )

40. 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 )