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Article

Immune consequences of mutations in the human common gamma-chain gene.

Molecular genetics and metabolism - 1 Jul 2002

Schmalstieg Frank C, Goldman Armond S

Abstract excerpt

A mutation (c.878T>A) in the common gamma chain (gamma(c)) causes an X-linked combined immunodeficiency (XCID) in a large kindred of British origin. In the disease, gamma(c) is expressed, but its binding to Jak3 is reduced. The immune deficiencies and clinical course were less marked in toddlers and school age children with XCID(L293Q) than in severe combined immunodeficiency (SCID). However, affected newborns...

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PMID: 12126929
DOI: 10.1016/s1096-7192(02)00042-2

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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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