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Article

Mutation Analysis of Three Infantile Cases of X-linked Severe Combined Immunodeficiency.

Clinical laboratory - 1 Jan 2020

Yu Changshun, Wang Yuxiu, Min Lingfeng

Abstract excerpt

BACKGROUND: Mutations in the IL2RG gene are known to cause X linked severe combined immunodeficiency (XSCID). More than 250 unique variants of the IL2RG gene have been reported to be identified in SCID patients so far, while many of them are of unknown significance which complicate the interpretation of mutation analysis results; furthermore, there are still many novel variants seen in clinical practice. METHODS:...

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Identifiers

PMID: 32013372
DOI: 10.7754/Clin.Lab.2019.190630

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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