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Article

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

The Journal of clinical investigation - 1 Feb 1995

Puck J M, Pepper A E, Bédard P M, Laframboise R

Abstract excerpt

The IL2RG gene encoding the gamma chain of the lymphocyte receptor for IL-2 lies in human Xq13.1 and is mutated in males with X-linked severe combined immunodeficiency (SCID). In a large Canadian pedigree genetic linkage studies demonstrated that the proband's grandmother was the source of an X-linked SCID mutation. However, her T cells did not show the expected skewed X chromosome inactivation pattern of female...

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Identifiers

PMID: 7860773
DOI: 10.1172/JCI117740
PMCID: PMC295580

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Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.PMID 7860773Read ↗

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