• Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European Cohorts 

      Mitchell, Anna L.; Macarthur, Katie D.R.; Gan, Earn H.; Baggott, Lucy E.; Wolff, Anette Susanne Bøe; Skinningsrud, Beate; Platt, Hazel; Short, Andrea; Lobell, Anna; Kämpe, Olle; Bensing, Sophie; Betterle, Corrado; Kasperlik-Zaluska, Anna; Zurawek, Magdalena; Fichna, Marta; Kockum, Ingrid; Eriksson, Gabriel Nordling; Ekwall, Olov; Wahlberg, Jeanette; Dahlqvist, Per; Hulting, Anna-Lena; Penna-Martinez, Marissa; Meyer, Gesine; Kahles, Heinrich; Badenhoop, Klaus; Hahner, Stefanie; Quinkler, Marcus; Falorni, Alberto; Phipps-Green, Amanda; Merriman, Tony R.; Ollier, William; Cordell, Heather J.; Undlien, Dag Erik; Czarnocka, Barbara; Husebye, Eystein Sverre; Pearce, Simon H.S. (Peer reviewed; Journal article, 2014-03-10)
      Background: Gene variants known to contribute to Autoimmune Addison's disease (AAD) susceptibility include those at the MHC, MICA, CIITA, CTLA4, PTPN22, CYP27B1, NLRP-1 and CD274 loci. The majority of the genetic component ...
    • Continuous Subcutaneous Hydrocortisone Infusion versus Oral Hydrocortisone Replacement for Treatment of Addison’s Disease: A Randomized Clinical Trial 

      Øksnes, Marianne; Björnsdottir, Sigridur; Isaksson, Magnus; Methlie, Paal; Carlsen, Siri; Nilsen, Roy Miodini; Broman, Jan-Erik; Triebner, Kai; Kämpe, Olle; Hulting, Anna-Lena; Bensing, Sophie; Husebye, Eystein Sverre; Løvås, Kristian (Peer reviewed; Journal article, 2014)
      Context: Conventional glucocorticoid replacement therapy fails to mimic the physiological cortisol rhythm, which may have implications for morbidity and mortality in patients with Addison’s disease. Objective: The objective ...
    • CTLA-4 as a genetic determinant in autoimmune Addison's disease 

      Wolff, Anette Susanne Bøe; Mitchell, Anna L.; Cordell, Heather J.; Short, Andrea; Skinningsrud, Beate; Ollier, William; Badenhoop, Klaus; Meyer, Gesine; Falorni, Alberto; Kämpe, Olle; Undlien, Dag Erik; Pearce, Simon H.S.; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2015)
      In common with several other autoimmune diseases, autoimmune Addison’s disease (AAD) is thought to be caused by a combination of deleterious susceptibility polymorphisms in several genes, together with undefined environmental ...
    • A longitudinal follow-up of autoimmune polyendocrine syndrome type 1 

      Bruserud, Øyvind; Oftedal, Bergithe Eikeland; Landegren, Nils; Erichsen, Martina Moter; Bratland, Eirik; Lima, Kari; Jørgensen, Anders Palmstrøm; Myhre, Anne Grethe; Svartberg, Johan; Fougner, Kristian J; Bakke, Åsne; Nedrebø, Bjørn Gunnar; Mella, Bjarne; Breivik, Lars Ertesvåg; Viken, Marte K; Knappskog, Per; Cuida Marthinussen, Ileana Mihaela; Løvås, Kristian; Kämpe, Olle; Wolff, Anette Susanne Bøe; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2016-08)
      Context: Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disease defined by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insufficiency, and ...
    • Mammalian CSAD and GADL1 have distinct biochemical properties and patterns of brain expression 

      Winge, Ingeborg; Teigen, Knut; Fossbakk, Agnete; Mahootchi, Elaheh; Kleppe, Rune; Sköldberg, Filip; Kämpe, Olle; Haavik, Jan (Peer reviewed; Journal article, 2015-11)
      Variants in the gene encoding the enzyme glutamic acid decarboxylase like 1 (GADL1) have been associated with response to lithium therapy. Both GADL1 and the related enzyme cysteine sulfinic acid decarboxylase (CSAD) have ...
    • Quality of Life in European Patients with Addison’s Disease: Validity of the Disease-Specific Questionnaire AddiQoL 

      Øksnes, Marianne; Bensing, Sophie; Hulting, Anna-Lena; Kämpe, Olle; Hackemann, Annika; Meyer, Gesine; Badenhoop, Klaus; Betterle, Corrado; Parolo, Anna; Giordano, Roberta; Falorni, Alberto; Papierska, Lucyna; Jeske, Wojciech; Kasperlik-Zaluska, Anna A.; Chatterjee, V. Krishna K.; Husebye, Eystein Sverre; Løvås, Kristian (Peer reviewed; Journal article, 2012-02)
      Context: Patients with Addison’s disease (AD) self-report impairment in specific dimensions on well-being questionnaires. An AD-specific quality-of-life questionnaire (AddiQoL) was developed to aid evaluation of patients. ...
    • Residual Corticosteroid Production in Autoimmune Addison Disease 

      Sævik, Åse Bjorvatn; Åkerman, Anna-Karin; Methlie, Paal; Quinkler, Marcus; Jørgensen, Anders Palmstrøm; Høybye, Charlotte; Debowska, Aleksandra; Nedrebø, Bjørn Gunnar; Dahle, Anne Lise; Carlsen, Siri; Tomkowicz, Aneta; Sollid, Stina Therese; Nermoen, Ingrid; Grønning, Kaja; Dahlqvist, Per; Grimnes, Guri; Skov, Jakob; Finnes, Trine Elisabeth; Valland, Susanna Fonneland; Wahlberg, Jeanette; Holte, Synnøve Emblem; Simunkova, Katerina; Kämpe, Olle; Husebye, Eystein Sverre; Bensing, Sophie; Øksnes, Marianne (Journal article; Peer reviewed, 2020)
      Design: Two-staged, cross-sectional clinical study in 17 centers (Norway, Sweden, and Germany). Residual glucocorticoid (GC) production was defined as quantifiable serum cortisol and 11-deoxycortisol and residual ...