Characterization of the %c chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID)

• Published in: Human genetics Vol. 107; no. 4; pp. 406 - 408
• Main Authors: Kumaki, Satoru, Ishii, Naoto, Minegishi, Masayoshi, Ohashi, Yoshiyuki, Hakozaki, Ikuko, Nonoyama, Shigeaki, Imai, Kohsuke, Morio, Tomohiro, Tsuge, Ikuya, Sakiyama, Yukio, Miyanoshita, Akihiko, Miura, Jun-ichi, Mayumi, Mitsuhumi, Heike, Toshio
• Format: Journal Article
• Language: English
• Published: 01.10.2000
• Subjects: IL2RG gene

X-linked severe combined immunodeficiency (X-SCID) is a rare fatal disease that is caused by mutations in the gene encoding the %c chain. In this study, 27 unrelated Japanese patients with X-SCID were examined in terms of their genetic mutations and surface expression of the %c chain. Among 25 patie...