Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant by 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 in Nature genetics (2005).

[PMID: 16273109] PubMed


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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