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J Clin Invest. 2013 May;123(5):1928-31. doi: 10.1172/JCI69289. Epub 2013 Apr 24.

Autoimmunity risk alleles: hotspots in B cell regulatory signaling pathways.

Author information

1
Integrated Department of Immunology, University of Colorado School of Medicine and National Jewish Health, Denver, Colorado, USA. cambierj@njhealth.org

Abstract

Autoimmunity is the consequence of the combination of genetic predisposition and environmental effects, such as infection, injury, and constitution of the gut microbiome. In this edition of the JCI, Dai et al. describe the use of knockin technology to test the mechanism of action of a polymorphism in the protein tyrosine phosphatase nonreceptor 22 (PTPN22) (LYP) that is associated with susceptibility to multiple autoimmune diseases. The function of this allele, and that of a disproportionate number of autoimmune disease risk alleles, suggests that inhibitory signaling pathways that maintain B lymphocyte immune tolerance may represent an Achilles' heel in the prevention of autoimmunity.

PMID:
23619359
PMCID:
PMC3635745
DOI:
10.1172/JCI69289
[Indexed for MEDLINE]
Free PMC Article

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