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

      Oftedal, Bergithe Eikeland; Berger, Amund Holte; Bruserud, Øyvind; Goldfarb, Yael; Sulen, André; Breivik, Lars Ertesvåg; Hellesen, Richard Alexander Svortevik; Haffner-Krausz, Rebecca; Knappskog, Per Morten; Johansson, Stefan; Wolff, Anette Susanne Bøe; Bratland, Eirik; Abramson, Jakub; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2023)
      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 ...