• Altered DNA methylation profile in Norwegian patients with Autoimmune Addison’s Disease 

      Bjånesøy, Trine Elholm; Andreassen, Bettina Kulle; Bratland, Eirik; Reiner, Andrew Henry; Islam, Shahinul; Husebye, Eystein Sverre; Bakke, Marit (Peer reviewed; Journal article, 2014-03-22)
      Autoimmune Addison's Disease (AAD) is an endocrine and immunological disease of uncertain pathogenesis resulting from the immune system's destruction of the hormone producing cells of the adrenal cortex. The underlying ...
    • Anti-Interferon Autoantibodies in Autoimmune Polyendocrinopathy Syndrome Type 1 

      Meager, Anthony; Visvalingam, Kumuthini; Peterson, Pärt; Möll, Kaidi; Murumägi, Astrid; Krohn, Kai; Eskelin, Petra; Perheentupa, Jaakko; Husebye, Eystein Sverre; Kadota, Yoshihisa; Willcox, Nick (Peer reviewed; Journal article, 2006-06-13)
      Background The autoimmune regulator (AIRE) gene influences thymic self-tolerance induction. In autoimmune polyendocrinopathy syndrome type 1 (APS1; OMIM 240300), recessive AIRE mutations lead to autoimmunity targetting ...
    • 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 ...
    • Autoantibodies against type I IFNs in patients with life-threatening COVID-19 

      Bastard, Paul; Rosen, Lindsey B.; Zhang, Qian; Michailidis, Eleftherios; Hoffmann, Hans-Heinrich; Zhang, Yu; Dorgham, Karim; Philippot, Quentin; Rosain, Jérémie; Béziat, Vivien; Manry, Jérémy; Shaw, Elana; Haljasmägi, Liis; Peterson, Pärt; Lorenzo, Lazaro; Bizien, Lucy; Trouillet-Assant, Sophie; Dobbs, Kerry; de Jesus, Adriana Almeida; Belot, Alexandre; Kallaste, Anne; Catherinot, Emilie; Tandjaoui-Lambiotte, Yacine; Le Pen, Jeremie; Kerner, Gaspard; Bigio, Benedetta; Seeleuthner, Yoann; Yang, Rui; Bolze, Alexandre; Spaan, András N; Delmonte, Ottavia M.; Abers, Michael S.; Aiuti, Alessandro; Casari, Giorgio; Lampasona, Vito; Piemonti, Lorenzo; Ciceri, Fabio; Bilguvar, Kaya; Lifton, Richard P.; Vasse, Marc; Smadja, David M.; Migaud, Mélanie; Hadjadj, Jérome; Terrier, Benjamin; Duffy, Darragh; Quintana-Murci, Lluis; van de Beek, Diederik; Roussel, Lucie; Vinh, Donald C.; Tangye, Stuart G.; Haerynck, Filomeen; Dalmau, David; Martinez-Picado, Javier; Brodin, Petter; Nussenzweig, Michel C.; Boisson-Dupuis, Stéphanie; Rodríguez-Gallego, Carlos; Vogt, Guillaume; Mogensen, Trine H.; Oler, Andrew J.; Gu, Jingwen; Burbelo, Peter D.; Cohen, Jeffrey I.; Biondi, Andrea; Bettini, Laura Rachele; D'Angio, Mariella; Bonfanti, Paolo; Rossignol, Patrick; Mayaux, Julien; Rieux-Laucat, Frédéric; Husebye, Eystein Sverre; Fusco, Francesca; Ursini, Matilde Valeria; Imberti, Luisa; Sottini, Alessandra; Paghera, Simone; Quiros-Roldan, Eugenia; Rossi, Camillo; Castagnoli, Riccardo; Montagna, Daniela; Licari, Amelia; Marseglia, Gian Luigi; Duval, Xavier; Ghosn, Jade; Tsang, John S.; Goldbach-Mansky, Raphaela; Kisand, Kai; Lionakis, Michail; Puel, Anne; Zhang, Shen-Ying; Holland, Steven M.; Gorochov, Guy; Jouanguy, Emmanuelle; Rice, Charles M.; Cobat, Aurelie; Notarangelo, Luigi D.; Abel, Laurent; Su, Helen C.; Casanova, Jean-Laurent (Journal article; Peer reviewed, 2020)
      Interindividual clinical variability in the course of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is vast. We report that at least 101 of 987 patients with life-threatening coronavirus disease ...
    • Bedtime Salivary Cortisol as a Screening Test for Cushing Syndrome in Children 

      Ueland, Grethe Åstrøm; Kellmann, Ralf; Davidsen, Melissa Jørstad; Viste, Kristin; Husebye, Eystein Sverre; Almås, Bjørg; Storr, Helen L.; Sagen, Jørn Vegard; Mellgren, Gunnar; Juliusson, Pétur Benedikt; Methlie, Paal (Journal article; Peer reviewed, 2021)
      Background Diagnosing Cushing syndrome (CS) can be challenging. The 24-hour urine free cortisol (UFC) measurement is considered gold standard. This is a laborious test, dependent on correct urine collection. Late-night ...
    • Cardiac magnetic resonance imaging of myocardial mass and fibrosis in primary aldosteronism 

      Grytaas, Marianne; Sellevåg, Kjersti; Thordarson, Hrafnkell B; Husebye, Eystein Sverre; Løvås, Kristian; Larsen, Terje H (Peer reviewed; Journal article, 2018-03)
      Background: Primary aldosteronism (PA) is associated with increased cardiovascular morbidity, presumably due to left ventricular (LV) hypertrophy and fibrosis. However, the degree of fibrosis has not been extensively ...
    • Cardiac magnetic resonance imaging of myocardial mass and fibrosis in primary aldosteronism 

      Grytaas, Marianne; Sellevåg, Kjersti; Thordarson, Hrafnkell B; Husebye, Eystein Sverre; Løvås, Kristian; Larsen, Terje H (Peer reviewed; Journal article, 2018-03)
      Background Primary aldosteronism (PA) is associated with increased cardiovascular morbidity, presumably due to left ventricular (LV) hypertrophy and fibrosis. However, the degree of fibrosis has not been extensively studied. ...
    • 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 ...
    • 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 ...
    • Development of a Disease-Specific Quality of Life Questionnaire in Addison’s Disease 

      Løvås, Kristian; Curran, Suzanne; Øksnes, Marianne; Husebye, Eystein Sverre; Huppert, Felicia A.; Chatterjee, V. Krishna K. (Peer reviewed; Journal article, 2010-02)
      Context: Patients with Addison’s disease reproducibly self-report impairment in specific dimensions of general well-being questionnaires, suggesting particular deficiencies in health-related quality-of-life (HRQoL). ...
    • Diagnostic testing of autonomous cortisol secretion in adrenal incidentalomas 

      Ueland, Grethe Åstrøm; Grinde, Thea; Methlie, Paal; Kelp, Oskar; Løvås, Kristian; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2020)
      Objective: Autonomous cortisol secretion (ACS) is a condition with ACTH-independent cortisol overproduction from adrenal incidentalomas (AI) or adrenal hyperplasia. The hypercortisolism is often mild, and most patients ...
    • Epidemiology and health related quality of life in hypoparathyroidism in Norway 

      Astor, Marianne; Løvås, Kristian; Debowska, Aleksandra; Eriksen, Erik Fink; Evang, Johan Arild; Fossum, Jan Christian; Fougner, Kristian J; Holte, Synnøve E.; Lima, Kari; Moe, Ragnar Bekkhus; Myhre, Anne Grethe; Kemp, E. Helen; Nedrebø, Bjørn Gunnar; Svartberg, Johan; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2016-08)
      Objective: The epidemiology of hypoparathyroidism (HP) is largely unknown. We aimed to determine prevalence, etiologies, health related quality of life (HRQOL) and treatment pattern of HP. Methods: Patients with HP and ...
    • 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 ...
    • Genome-wide copy number variation (CNV) in patients with autoimmune Addison’s disease 

      Brønstad, Ingeborg; Wolff, Anette S. B.; Løvås, Kristian; Knappskog, Per; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2011-08-18)
      Background: Addison’s disease (AD) is caused by an autoimmune destruction of the adrenal cortex. The pathogenesis is multi-factorial, involving genetic components and hitherto unknown environmental factors. The aim of the ...
    • 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 ...
    • Oral microbiota in autoimmune polyendocrine syndrome type 1 

      Bruserud, Øyvind; Siddiqui, Huma; Marthinussen, Michaela Cuida; Chen, Tsute; Jonsson, Roland; Oftedal, Bergithe Eikeland; Olsen, Ingar; Husebye, Eystein Sverre; Wolff, Anette Bøe (Peer reviewed; Journal article, 2018)
      Background: Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare, childhood onset disease caused by mutations in the Autoimmune Regulator gene. The phenotypic expression is highly variable and includes disease ...
    • Peripheral blood cells from patients with autoimmune Addison's disease poorly respond to interferons in vitro, despite elevated serum levels of interferon-inducible chemokines 

      Edvardsen, Kine Susann Waade; Bjånesøy, Trine Elholm; Hellesen, Alexander; Breivik, Lars Ertesvåg; Bakke, Marit; Husebye, Eystein Sverre; Bratland, Eirik (Peer reviewed; Journal article, 2015-05-15)
      Autoimmune Addison's disease (AAD) is a disorder caused by an immunological attack on the adrenal cortex. The interferon (IFN)-inducible chemokine CXCL10 is elevated in serum of AAD patients, suggesting a peripheral IFN ...