• B cells and autoantibodies in AIRE deficiency 

      Wolff, Anette Susanne Bøe; Braun, Sarah; Husebye, Eystein Sverre; Oftedal, Bergithe Eikeland (Journal article; Peer reviewed, 2021)
      Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare but severe monogenetic autoimmune endocrine disease caused by failure of the Autoimmune Regulator (AIRE). AIRE regulates the negative selection of T cells in the ...
    • The chaperonin CCT8 controls proteostasis essential for T cell maturation, selection, and function 

      Oftedal, Bergithe Eikeland; Maio, Stefano; Handel E, Adam; White PJ, Madeleine; Howie, Duncan; Davis, Simon; Prevot, Nicolas; Rota A, Ioanna; Deadman E, Mary; Kessler M, Benedict; Fischer, Roman; Trede S, Nikolaus; Sezgin, Erdinc; Maizels M, Rick; Holländer, Georg A. (Journal article; Peer reviewed, 2021)
      T cells rely for their development and function on the correct folding and turnover of proteins generated in response to a broad range of molecular cues. In the absence of the eukaryotic type II chaperonin complex, CCT, T ...
    • GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility 

      Eriksson, Daniel; Røyrvik, Ellen Christine; Aranda-Guillen, Maribel; Berger, Amund Holte; Landegren, Nils; Artaza, Haydee; Hallgren, Åsa; Grytaas, Marianne; Strøm, Sara; Bratland, Eirik; Botusan, Ileana; Oftedal, Bergithe Eikeland; Breivik, Lars Ertesvåg; Vaudel, Marc; Helgeland, Øyvind; Falorni, Alberto; Jørgensen, Anders Palmstrøm; Hulting, Anna-Lena; Svartberg, Johan; Ekwall, Olov; Fougner, Kristian J; Wahlberg, Jeanette; Nedrebø, Bjørn Gunnar; Dahlqvist, Per; Study group, Norwegian Addison Registry; Study Group, Swedish Addison Registry; Knappskog, Per Morten; Wolff, Anette Susanne Bøe; Bensing, Sophie; Johansson, Stefan; Kämpe, Olof; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2021)
      Autoimmune Addison’s disease (AAD) is characterized by the autoimmune destruction of the adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report the first ...
    • The natural history of 21-hydroxylase autoantibodies in autoimmune Addison’s disease 

      Wolff, Anette Susanne Bøe; Breivik, Lars Ertesvåg; Hufthammer, Karl Ove; Grytaas, Marianne; Bratland, Eirik; Husebye, Eystein Sverre; Oftedal, Bergithe Eikeland (Journal article; Peer reviewed, 2021)
      Background: The most common cause of primary adrenal failure (Addison’s disease) in the Western world is autoimmunity characterized by autoantibodies against the steroidogenic enzyme 21-hydroxylase (CYP21A2, 21OH). Detection ...
    • Transcriptional Changes in Regulatory T Cells From Patients With Autoimmune Polyendocrine Syndrome Type 1 Suggest Functional Impairment of Lipid Metabolism and Gut Homing 

      Berger, Amund Holte; Bratland, Eirik; Sjøgren, Thea; Heimli, Marte; Tyssedal, Torgeir; Bruserud, Øyvind; Johansson, Stefan; Husebye, Eystein Sverre; Oftedal, Bergithe Eikeland; Wolff, Anette Susanne Bøe (Journal article; Peer reviewed, 2021)
      Autoimmune polyendocrine syndrome type I (APS-1) is a monogenic model disorder of organ-specific autoimmunity caused by mutations in the Autoimmune regulator (AIRE) gene. AIRE facilitates the expression of organ-specific ...