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Article

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

Nature genetics - 1 Dec 2005

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 16273109
DOI: 10.1038/ng1673

Genes

PTPN22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.PMID 16273109Read ↗

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