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

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 SasakiMitsuaki Kimura, Atsushi Kikuta, Yukiji Date, Masahiro Sako, Haruki Tanaka, Kimihiko Sano, Kazuo Sugamura, Shigeru Tsuchiya

研究成果: Article査読

10 被引用数 (Scopus)

抄録

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

本文言語English
ページ(範囲)406-408
ページ数3
ジャーナルHuman Genetics
107
4
DOI
出版ステータスPublished - 2000

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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