A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1

A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1

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...

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Bibliographic Details
Main Authors: Bergithe Eikeland Oftedal, Amund Holte Berger, Øyvind Bruserud, Yael Goldfarb, Andre Sulen, Lars Breivik, Alexander Hellesen, Shifra Ben-Dor, Rebecca Haffner-Krausz, Per M. Knappskog, Stefan Johansson, Anette S.B. Wolff, Eirik Bratland, Jakub Abramson, Eystein Sverre Husebye
Format: Article
Language:English
Published: American Society for Clinical Investigation 2023-11-01
Series:The Journal of Clinical Investigation
Subjects:
Autoimmunity
Endocrinology
Online Access:https://doi.org/10.1172/JCI169704

Internet

https://doi.org/10.1172/JCI169704

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