Article
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Immunity - 16 Jun 2015
Oftedal Bergithe E, Hellesen Alexander, Erichsen Martina M, Bratland Eirik, Vardi Ayelet, Perheentupa Jaakko, Kemp E Helen, Fiskerstrand Torunn, Viken Marte K, Weetman Anthony P, Fleishman Sarel J, Banka Siddharth, Newman William G, Sewell W A C, Sozaeva Leila S, Zayats Tetyana, Haugarvoll Kristoffer, Orlova Elizaveta M, Haavik Jan, Johansson Stefan, Knappskog Per M, Løvås Kristian, Wolff Anette S B, Abramson Jakub, Husebye Eystein S
Abstract excerpt
The autoimmune regulator (AIRE) gene is crucial for establishing central immunological tolerance and preventing autoimmunity. Mutations in AIRE cause a rare autosomal-recessive disease, autoimmune polyendocrine syndrome type 1 (APS-1), distinguished by multi-organ autoimmunity. We have identified multiple cases and families with mono-allelic mutations in the first plant homeodomain (PHD1) zinc finger of AIRE that...
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