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

• DOI: 10.1007/s004390000381
• Publication Date: 2003-02-13T05:27:25Z
• Authors: Satoru Kumaki; Naoto Ishii; Masayoshi Minegishi; Yoshiyuki Ohashi; Ikuko Hakozaki; Shigeaki Nonoyama; Kohsuke Imai; Tomohiro Morio; Ikuya Tsuge; Yukio Sakiyama; Akihiko Miyanoshita; Jun-ichi Miura; Mitsuhumi Mayumi; Toshio Heike; Kenji Katamura; Hidetoshi Takada; Isho Izumi; Junji Kamizono; Shigeyoshi Hibi; Hiroshi Sasaki; Mitsuaki Kimura; Atsushi Kikuta; Yukiji Date; Masahiro Sako; Haruki Tanaka; Kimihiko Sano; Kazuo Sugamura; Shigeru Tsuchiya
• Keywords: Male; X Chromosome; Genetic Linkage; DNA Mutational Analysis; Antibodies, Monoclonal; Infant; Receptors, Interleukin-2; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Japan; Mutation; Humans; Severe Combined Immunodeficiency

X-linked severe combined immunodeficiency (X-SCID) is a rare fatal disease that is caused by mutations in the gene encoding the gammac chain. In this study, 27 unrelated Japanese patients with X-SCID were examined in terms of their genetic mutations and surface expression of the gammac 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 gammac chain on the cell surface. Overall, 84% of patients lacked surface expression of the gammac chain leading to a diagnosis of X-SCID.