Article
Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire.
The Journal of clinical investigation - 1 May 2008
Su Maureen A, Giang Karen, Zumer Kristina, Jiang Huimin, Oven Irena, Rinn John L, Devoss Jason J, Johannes Kellsey P A, Lu Wen, Gardner James, Chang Angela, Bubulya Paula, Chang Howard Y, Peterlin B Matija, Anderson Mark S
Abstract excerpt
Homozygous loss-of-function mutations in AIRE cause autoimmune polyglandular syndrome type 1 (APS 1), which manifests in a classic triad of hypoparathyroidism, adrenal insufficiency, and candidiasis. Interestingly, a kindred with a specific G228W AIRE variant presented with an autosomal dominant autoimmune phenotype distinct from APS 1. We utilized a novel G228W-knockin mouse model to show that this variant acted...
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