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Article

X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.

Journal of Korean medical science - 1 Feb 2004

Jo Eun-Kyeong, Kumaki Satoru, Wei Du, Tsuchiya Shigeru, Kanegane Hirokazu, Song Chang-Hwa, Noh Ha Young, Kim Young Ok, Kim So Yeon, Chung Hae Yul, Kim Yoon Ha, Kook Hoon

Abstract excerpt

X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations in the gamma c chain gene, which encodes an essential component of the cytokine receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9, IL-15, and IL-21. A 13-month-old boy with recurrent infections who had reduced serum immunoglobulin levels and decreased numbers of CD3, CD16/56 cells was evaluated...

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Identifiers

PMID: 14966353
DOI: 10.3346/jkms.2004.19.1.123
PMCID: PMC2822247

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Source receipt: pubmed, retrieved 7 Sept 2026.

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