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; Mitsuaki Kimura; Atsushi Kikuta; Yukiji Date; Masahiro Sako; Haruki Tanaka; Kimihiko Sano; Kazuo Sugamura; Shigeru Tsuchiya

doi:10.1007/s004390000381

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

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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 language	English
Pages (from-to)	406-408
Number of pages	3
Journal	Human Genetics
Volume	107
Issue number	4
DOIs	https://doi.org/10.1007/s004390000381
Publication status	Published - 2000
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1007/s004390000381

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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

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

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

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.",

author = "Satoru Kumaki and Naoto Ishii and Masayoshi Minegishi and Yoshiyuki Ohashi and Ikuko Hakozaki and Shigeaki Nonoyama and Kohsuke Imai and Tomohiro Morio and Ikuya Tsuge and Yukio Sakiyama and Akihiko Miyanoshita and Miura, {Jun Ichi} and Mitsuhumi Mayumi and Toshio Heike and Kenji Katamura and Hidetoshi Takada and Isho Izumi and Junji Kamizono and Shigeyoshi Hibi and Hiroshi Sasaki and Mitsuaki Kimura and Atsushi Kikuta and Yukiji Date and Masahiro Sako and Haruki Tanaka and Kimihiko Sano and Kazuo Sugamura and Shigeru Tsuchiya",

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doi = "10.1007/s004390000381",

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AU - Kumaki, Satoru

AU - Ishii, Naoto

AU - Minegishi, Masayoshi

AU - Ohashi, Yoshiyuki

AU - Hakozaki, Ikuko

AU - Nonoyama, Shigeaki

AU - Imai, Kohsuke

AU - Morio, Tomohiro

AU - Tsuge, Ikuya

AU - Sakiyama, Yukio

AU - Miyanoshita, Akihiko

AU - Miura, Jun Ichi

AU - Mayumi, Mitsuhumi

AU - Heike, Toshio

AU - Katamura, Kenji

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

AU - Sugamura, Kazuo

AU - Tsuchiya, Shigeru

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

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ER -

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

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