Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire

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 aut...

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Autores principales: Su, Maureen A., Giang, Karen, Žumer, 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2008
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2293336/
https://ncbi.nlm.nih.gov/pubmed/18414681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI34523
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