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

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)406-408
Number of pages3
JournalHuman Genetics
Volume107
Issue number4
DOIs
Publication statusPublished - 2000

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Kumaki, S., Ishii, N., Minegishi, M., Ohashi, Y., Hakozaki, I., Nonoyama, S., Imai, K., Morio, T., Tsuge, I., Sakiyama, Y., Miyanoshita, A., Miura, J. I., Mayumi, M., Heike, T., Katamura, K., Takada, H., Izumi, I., Kamizono, J., Hibi, S., ... Tsuchiya, S. (2000). Characterization of the γc chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID). Human Genetics, 107(4), 406-408. https://doi.org/10.1007/s004390000381