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Article

Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.

Clinical immunology (Orlando, Fla.) - 1 Apr 2000

Niemela J E, Puck J M, Fischer R E, Fleisher T A, Hsu A P

Abstract excerpt

X-linked severe combined immunodeficiency (XSCID) is a rare and potentially fatal disease caused by mutations of IL2RG, the gene encoding the interleukin-2 receptor gamma chain, a component of multiple cytokine receptors that are essential for lymphocyte development and function. To date, over 100 different mutations of IL2RG resulting in XSCID have been published. Using nonradioactive, direct DNA sequencing of a...

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Identifiers

PMID: 10794430
DOI: 10.1006/clim.2000.4846

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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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