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[Mutation analyses and prenatal diagnosis in two families of X linked severe combined immunodeficiency caused by IL2RG gene novel mutation].

Zhonghua yi xue za zhi - 29 Apr 2014

Kong Xiangdong, Liu Ning, Xu Xueju, Wu Qinghua, Zhao Zhenhua, Bai Qiaoling, Meng Jingjing

Abstract excerpt

OBJECTIVE: To evaluate the diagnostic feasibility of mutation analysis and prenatal genetic diagnosis genetic analysis of IL2RG gene in two families with a birth history of X-linked severe combined immunodeficiency (X-SCID). METHODS: Blood samples of a male infant patient of X-SCID and his mother...

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PMID: 24924886

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24924886-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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