• Altered immune activation and IL-23 signaling in response to Candida albicans in autoimmune polyendocrine syndrome type 1 

      Bruserud, Øyvind; Bratland, Eirik; Hellesen, Alexander; Delaleu, Nicolas; Reikvam, Håkon; Oftedal, Bergithe Eikeland; Wolff, Anette Susanne Bøe (Peer reviewed; Journal article, 2017-09-01)
      Objective: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare, childhood onset disease caused by mutations in the autoimmune regulator (AIRE) gene. Chronic mucocutaneous candidiasis (CMC) is one of the three major ...
    • 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 ...
    • Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease 

      Aslaksen, Sigrid; Methlie, Paal; Vigeland, Magnus Dehli; Jøssang, Dag Eirik; Wolff, Anette Susanne Bøe; Sheng, Ying; Oftedal, Bergithe Eikeland; Skinningsrud, Beate; Undlien, Dag Erik; Selmer, Kaja Kristine; Husebye, Eystein Sverre; Bratland, Eirik (Peer reviewed; Journal article, 2019-09-27)
      Background: Underlying causes of adrenal insufficiency include congenital adrenal hyperplasia (CAH) and autoimmune adrenocortical destruction leading to autoimmune Addison's disease (AAD). Here, we report a patient with a ...
    • 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 ...
    • Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia 

      Brønstad, Ingeborg; Breivik, Lars Ertesvåg; Methlie, Paal; Wolff, Anette Susanne Bøe; Bratland, Eirik; Nermoen, Ingrid; Løvås, Kristian; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2014)
      In about 95% of cases, congenital adrenal hyperplasia (CAH) is caused by mutations in CYP21A2 gene encoding steroid 21-hydroxylase (21OH). Recently, we have reported four novel CYP21A2 variants in the Norwegian population ...
    • 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 ...
    • Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6 

      Astor, Marianne; Løvås, Kristian; Wolff, Anette Susanne Bøe; Nedrebø, Bjørn Gunnar; Bratland, Eirik; Steen-Johnsen, Jon; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2015)
      Primary hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disorder characterized by neuromuscular symptoms in infancy due to extremely low levels of serum magnesium and moderate to severe hypocalcemia. ...
    • 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 ...