Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant |
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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 |
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Affiliation: | Program on Inflammatory Disease Research, Infectious and Inflammatory Disease Center, The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, California 92037, USA. |
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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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