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Article

An interleukin-2 receptor gamma chain mutation with normal thymus morphology.

The Journal of clinical investigation - 15 Dec 1997

Sharfe N, Shahar M, Roifman C M

Abstract excerpt

One of the most common human immunodeficiencies is an X-linked condition arising from mutations of the gamma subunit of the interleukin-2 receptor (IL-2Rgamma). The IL-2Rgamma protein is one chain of the heterotrimeric (alpha, beta, gamma) IL-2 receptor, but also participates in the formation of the IL-4, 7, 9, and 15 receptor complexes. The diagnosis of X-linked SCID is usually relatively simple due to the...

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Identifiers

PMID: 9399950
DOI: 10.1172/JCI119858
PMCID: PMC508516

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Source receipt: pubmed, retrieved 7 Sept 2026.

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