Vang, Torkel and Congia, Mauro and Macis, Maria Doloretta and Musumeci, Lucia and Orrù, Valeria and Zavattari, Patrizia and Nika, Konstantina and Tautz, Lutz and Taskén, Kjetil and Cucca, Francesco and Mustelin, Tomas and Bottini, Nunzio (2005) Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nature Genetics, Vol. 37 (12), p. 1317-1319. eISSN 1546-1718. Article.
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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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