Nature Genetics 37, 1317 - 1319 (2005)
Published online: 6 November 2005; | doi:10.1038/ng1673
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variantTorkel Vang1, Mauro Congia2, Maria Doloretta Macis2, Lucia Musumeci1, Valeria Orrú2, 3, Patrizia Zavattari2, Konstantina Nika1, Lutz Tautz1, Kjetil Taskén4, Francesco Cucca2, 5, Tomas Mustelin1
& Nunzio Bottini1, 31
Program on Inflammatory Disease Research, Infectious and Inflammatory Disease Center, The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, California 92037, USA. 2
Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, Ospedale Microcitemico, 09121 Cagliari, Italy. 3
Department of Orthopaedic Surgery and Institute for Genetic Medicine, University of Southern California Keck School of Medicine, Los Angeles, California 90033, USA. 4
The Biotechnology Centre, University of Oslo, Box 1125, Blindern, N-0317 Oslo, Norway. 5
Cattedra di Genetica Medica, Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, 07100 Sassari, Italy.
Correspondence should be addressed to Nunzio Bottini nunzio@usc.edu 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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