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
• ISSN: 0340-6717
• DOI: 10.1007/s004390000381

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 patients examined, excluding two patients with large deletions, 23 different mutations were identified in the IL2RG gene, including 10 novel mutations. One patient bearing an extracellular mutation and all three of the patients bearing intracellular mutations after exon 7 expressed the %c chain on the cell surface. Overall, 84% of patients lacked surface expression of the %c chain leading to a diagnosis of X-SCID.