• A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies 

      Aranda-Guillén, Maribel; Røyrvik, Ellen Christine; Fletcher-Sandersjöö, Sara; Artaza Alvarez, Haydee Maribel; Botusan, Ileana Ruxandra; Grytaas, Marianne Aardal; Hallgren, Åsa; Breivik, Lars Ertesvåg; Pettersson, Maria; Jørgensen, Anders Palmstrøm; Lindstrand, Anna; Vogt, Elinor Margrethe; Husebye, Eystein Sverre; Kämpe, Olle; Wolff, Anette Susanne Bøe; Bensing, Sophie; Johansson, Stefan; Eriksson, Daniel (Journal article; Peer reviewed, 2023)
      Background Autoimmune Addison's disease (AAD) is the most common cause of primary adrenal insufficiency (PAI). Despite its exceptionally high heritability, tools to estimate disease susceptibility in individual patients ...
    • Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison’s disease 

      Lundtoft, Christian; Eriksson, Daniel; Bianchi, Matteo; Aranda-Guillén, Maribel; Landegren, Nils; Rantapää-Dahlqvist, Solbritt; Söderkvist, Peter; Meadows, Jennifer R.S.; Bensing, Sophie; Pielberg, Gerli Rosengren; Lindblad-Toh, Kerstin; Rönnblom, Lars; Kämpe, Olle (Journal article; Peer reviewed, 2023)
      Objective Autoantibodies against the adrenal enzyme 21-hydroxylase is a hallmark manifestation in autoimmune Addison's disease (AAD). Steroid 21-hydroxylase is encoded by CYP21A2, which is located in the human leucocyte ...
    • Self-management and hospitalization in 615 Swedish patients with Addison's disease during the coronavirus disease 2019 pandemic: a retrospective study 

      Öster, Sara; Esposito, Daniela; Aranda-Guillén, Maribel; Åkerman, Anna-Karin; Wahlberg, Jeanette; Husebye, Eystein Sverre; Kämpe, Olle; Botusan, Ileana Ruxandra; Dahlqvist, Per; Bergthorsdottir, Ragnhildur; Bensing, Sophie (Journal article; Peer reviewed, 2023)
      Objective Autoimmune Addison's disease (AAD) entails a chronic adrenal insufficiency and is associated with an increased risk of severe infections. It is, however, unknown how patients with AAD were affected by the ...