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Brief Communication

Nature Genetics 37, 1317–1319 (1 December 2005) | doi:10.1038/ng1673

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

Torkel Vang , Mauro Congia , Maria Doloretta Macis , Lucia Musumeci , Valeria Orr|[uacute]| , Patrizia Zavattari , Konstantina Nika , Lutz Tautz , Kjetil Task|[eacute]|n , Francesco Cucca , Tomas Mustelin & Nunzio Bottini

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.