Article
A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.
The Journal of clinical investigation - 1 Nov 2023
Oftedal Bergithe Eikeland, Berger Amund Holte, Bruserud Øyvind, Goldfarb Yael, Sulen Andre, Breivik Lars, Hellesen Alexander, Ben-Dor Shifra, Haffner-Krausz Rebecca, Knappskog Per M, Johansson Stefan, Wolff Anette Sb, Bratland Eirik, Abramson Jakub, Husebye Eystein Sverre
Abstract excerpt
Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the autoimmune regulator (AIRE) gene. Most patients present with severe chronic mucocutaneous candidiasis and organ-specific autoimmunity from early childhood, but the clinical picture is highly variable. AIRE is crucial for negative selection of T cells, and scrutiny of different patient mutations has previously highlighted many of its...
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