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Article

Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.

Journal of clinical immunology - 1 Jan 1997

O'Marcaigh A S, Puck J M, Pepper A E, De Santes K, Cowan M J

Abstract excerpt

X-linked severe combined immunodeficiency disease (SCID) results from mutations of IL2RG, the gene encoding the interleukin-2 receptor gamma chain, also known as the common gamma chain (gamma c). A distinct form of autosomal recessive SCID occurs at an increased frequency among the Navajo Native American population. The disease gene responsible for autosomal Navajo SCID remains to be determined. We report the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9049783
DOI: 10.1023/a:1027332327827

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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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