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- Title
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.
- Authors
Vang, Torkel; Congia, Mauro; Macis, Maria Doloretta; Musumeci, Lucia; Orrú, Valeria; Zavattari, Patrizia; Nika, Konstantina; Tautz, Lutz; Taskén, Kjetil; Cucca, Francesco; Mustelin, Tomas; Bottini, Nunzio
- 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.
- Publication
Nature genetics, 2005, Vol 37, Issue 12, p1317
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1673