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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Detalhes bibliográficos
Main Authors: 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
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2008
Assuntos:
Research Article
Acesso em linha: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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