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 Sasaki & 8 others Mitsuaki Kimura, Atsushi Kikuta, Yukiji Date, Masahiro Sako, Haruki Tanaka, Kimihiko Sano, Kazuo Sugamura, Shigeru Tsuchiya

Research output: Contribution to journalArticle

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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 - Jan 1 2000

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X-Linked Combined Immunodeficiency Diseases
Mutation
Rare Diseases
Genes
Exons

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Kumaki, S., Ishii, N., Minegishi, M., Ohashi, Y., Hakozaki, I., Nonoyama, 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

Characterization of the γc chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID). / 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; Katamura, Kenji; Takada, Hidetoshi; Izumi, Isho; Kamizono, Junji; Hibi, Shigeyoshi; Sasaki, Hiroshi; Kimura, Mitsuaki; Kikuta, Atsushi; Date, Yukiji; Sako, Masahiro; Tanaka, Haruki; Sano, Kimihiko; Sugamura, Kazuo; Tsuchiya, Shigeru.

In: Human Genetics, Vol. 107, No. 4, 01.01.2000, p. 406-408.

Research output: Contribution to journalArticle

Kumaki, S, Ishii, N, Minegishi, M, Ohashi, Y, Hakozaki, I, Nonoyama, S, Imai, K, Morio, T, Tsuge, I, Sakiyama, Y, Miyanoshita, A, Miura, JI, Mayumi, M, Heike, T, Katamura, K, Takada, H, Izumi, I, Kamizono, J, Hibi, S, Sasaki, H, Kimura, M, Kikuta, A, Date, Y, Sako, M, Tanaka, H, Sano, K, Sugamura, K & Tsuchiya, S 2000, 'Characterization of the γc chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID)', Human Genetics, vol. 107, no. 4, pp. 406-408. https://doi.org/10.1007/s004390000381
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 ; Katamura, Kenji ; Takada, Hidetoshi ; Izumi, Isho ; Kamizono, Junji ; Hibi, Shigeyoshi ; Sasaki, Hiroshi ; Kimura, Mitsuaki ; Kikuta, Atsushi ; Date, Yukiji ; Sako, Masahiro ; Tanaka, Haruki ; Sano, Kimihiko ; Sugamura, Kazuo ; Tsuchiya, Shigeru. / Characterization of the γc chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID). In: Human Genetics. 2000 ; Vol. 107, No. 4. pp. 406-408.
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AU - Nonoyama, Shigeaki

AU - Imai, Kohsuke

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AU - Takada, Hidetoshi

AU - Izumi, Isho

AU - Kamizono, Junji

AU - Hibi, Shigeyoshi

AU - Sasaki, Hiroshi

AU - Kimura, Mitsuaki

AU - Kikuta, Atsushi

AU - Date, Yukiji

AU - Sako, Masahiro

AU - Tanaka, Haruki

AU - Sano, Kimihiko

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AU - Tsuchiya, Shigeru

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