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. 2005 Dec;37(12):1317-9.
doi: 10.1038/ng1673. Epub 2005 Nov 6.

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

Torkel Vang  1 , Mauro Congia, Maria Doloretta Macis, Lucia Musumeci, Valeria Orrú, Patrizia Zavattari, Konstantina Nika, Lutz Tautz, Kjetil Taskén, Francesco Cucca, Tomas Mustelin, Nunzio Bottini
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Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant

Torkel Vang et al. Nat Genet. 2005 Dec.

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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