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Nat Genet. 2005 Dec;37(12):1317-9. Epub 2005 Nov 6.

Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.

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  • 1Program on Inflammatory Disease Research, Infectious and Inflammatory Disease Center, The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, California 92037, USA.

Abstract

A SNP in the gene PTPN22 is associated with type 1 diabetes, rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease and other autoimmune disorders. T cells from carriers of the predisposing allele produce less interleukin-2 upon TCR stimulation, and the encoded phosphatase has higher catalytic activity and is a more potent negative regulator of T lymphocyte activation. We conclude that the autoimmune-predisposing allele is a gain-of-function mutant.

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PMID:
16273109
[PubMed - indexed for MEDLINE]
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