Autoimmunity risk alleles: hotspots in B cell regulatory signaling pathways.
basic_science · Level V
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- Record sourced from PubMed, PMID 23619359.
- Also identified by DOI 10.1172/JCI69289 and PMC identifier 3635745.
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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.
Medical subject headings
- Autoimmunity
- Protein Tyrosine Phosphatase, Non-Receptor Type 22