A switch-variant model integrates the functions of an autoimmune variant of the phosphatase PTPN22

Torkel Vang; Jimmi Nielsen; Garth L Burn

doi:10.1126/scisignal.aat0936

A switch-variant model integrates the functions of an autoimmune variant of the phosphatase PTPN22

Sci Signal. 2018 Apr 17;11(526):eaat0936. doi: 10.1126/scisignal.aat0936.

Authors

Torkel Vang¹, Jimmi Nielsen², Garth L Burn³

Affiliations

¹ Mental Health Centre Glostrup, Copenhagen University Hospital, 2600 Glostrup, Copenhagen, Denmark. [email protected].
² Mental Health Centre Glostrup, Copenhagen University Hospital, 2600 Glostrup, Copenhagen, Denmark.
³ Department of Cellular Microbiology, Max Planck Institute for Infection Biology, 10117 Berlin, Germany.

PMID: 29666305
DOI: 10.1126/scisignal.aat0936

Abstract

The R620W polymorphism in protein tyrosine phosphatase nonreceptor type 22 (PTPN22) predisposes carriers to several autoimmune diseases. Two papers in Science Immunology and Science Signaling on this human disease-associated variant lead us to propose a new "switch-of-function" model.

Publication types

Review

MeSH terms

Animals
Autoimmune Diseases / genetics
Autoimmune Diseases / immunology*
Autoimmune Diseases / metabolism
Genetic Predisposition to Disease / genetics
Humans
Mice, Transgenic
Models, Genetic*
Models, Immunological*
Mutation, Missense / immunology*
Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics
Protein Tyrosine Phosphatase, Non-Receptor Type 22 / immunology*
Protein Tyrosine Phosphatase, Non-Receptor Type 22 / metabolism
Signal Transduction / genetics
Signal Transduction / immunology*

Substances

Protein Tyrosine Phosphatase, Non-Receptor Type 22