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Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant.
Beppu S, Nishikawa T, Tomomasa D, Hijikata A, Kasabata H, Terazono H, Ikawa K, Nakamura T, Horikawa S, Nagahama J, Nakamura A, Abematsu T, Nakagawa S, Oketani K, Kanegane H, Okamoto Y. Beppu S, et al. Among authors: hijikata a. Front Immunol. 2024 Nov 20;15:1478411. doi: 10.3389/fimmu.2024.1478411. eCollection 2024. Front Immunol. 2024. PMID: 39635533 Free PMC article.
Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.
Staines-Boone AT, Vignesh P, Tsumura M, de la Garza Fernández G, Tyagi R, Rawat A, Das J, Tomomasa D, Asano T, Hijikata A, Salazar-Gálvez Y, Kanegane H, Okada S, Reyes SOL. Staines-Boone AT, et al. Among authors: hijikata a. J Clin Immunol. 2023 Dec 22;44(1):20. doi: 10.1007/s10875-023-01634-0. J Clin Immunol. 2023. PMID: 38129739
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.
Shibata H, Nakajima D, Konno R, Hijikata A, Higashiguchi M, Nihira H, Shimodera S, Miyamoto T, Nishitani-Isa M, Hiejima E, Izawa K, Takita J, Heike T, Okamura K, Ohnishi H, Ishimura M, Okada S, Yamashita M, Morio T, Kanegane H, Imai K, Nakamura Y, Nonoyama S, Uchiyama T, Onodera M, Nishikomori R, Ohara O, Kawashima Y, Yasumi T. Shibata H, et al. Among authors: hijikata a. J Clin Immunol. 2024 Oct 25;45(1):33. doi: 10.1007/s10875-024-01821-7. J Clin Immunol. 2024. PMID: 39453496 Free PMC article.
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.
Tomomasa D, Lee BH, Hirata Y, Inoue Y, Majima H, Imanaka Y, Asano T, Katakami T, Lee J, Hijikata A, Worakitchanon W, Yang X, Wang X, Watanabe A, Kamei K, Kageyama Y, Seo GH, Fujimoto A, Casanova JL, Puel A, Morio T, Okada S, Kanegane H. Tomomasa D, et al. Among authors: hijikata a. J Clin Immunol. 2024 May 17;44(5):121. doi: 10.1007/s10875-024-01724-7. J Clin Immunol. 2024. PMID: 38758287
116 results