Characterization of the ?c chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID)
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- 作者：Satoru Kumaki ; Naoto Ishii ; Masayoshi Minegishi ; Yoshiyuki Ohashi ; Ikuko Hakozaki ; Shigeaki Nonoyama ; Kohsuke Imai ; Tomohiro Morio ; Ikuya Tsuge and Yukio Sakiyama ; et al.
- 刊名：Human Genetics
- 出版时间：October 2000
- 出版年：2000
- 期刊代码：103_0340-6717
- 类别：bio
- 卷：107
- 期：4
- 页码：406-408
- 数据来源：sp
摘要
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.