• 21-Hydroxylase-Specific CD8+ T Cells in Autoimmune Addison’s Disease Are Restricted by HLA-A2 and HLA-C7 Molecules 

      Hellesen, Alexander; Aslaksen, Sigrid; Breivik, Lars Ertesvåg; Røyrvik, Ellen Christine; Bruserud, Øyvind; Edvardsen, Kine Susann Waade; Brokstad, Karl Albert; Wolff, Anette Susanne Bøe; Husebye, Eystein Sverre; Bratland, Eirik (Journal article; Peer reviewed, 2021)
      Objectives: CD8+ T cells targeting 21-hydroxylase (21OH) are presumed to play a central role in the destruction of adrenocortical cells in autoimmune Addison’s disease (AAD). Earlier reports have suggested two immunodominant ...
    • Adrenal steroid profiling as a diagnostic tool to differentiate polycystic ovary syndrome from nonclassic congenital adrenal hyperplasia: pinpointing easy screening possibilities and normal cutoff levels using liquid chromatography tandem mass spectrometry 

      Ueland, Grethe Åstrøm; Dahl, Sandra Rinne; Methlie, Paal; Hessen, Saleh; Husebye, Eystein Sverre; Thorsby, Per Medbøe (Journal article; Peer reviewed, 2022)
      Objective To define liquid chromatography tandem mass spectrometry (LC-MS/MS)–based cutoff levels and panels of steroid hormones, to improve diagnosis of nonclassic congenital adrenal hyperplasia (NCCAH) and other partial ...
    • 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 ...
    • Autoimmune Thyroid Disorders in Autoimmune Addison Disease 

      Stokland, Ann-Elin Meling; Ueland, Grethe Åstrøm; Lima, Kari; Grønning, Kaja; Finnes, Trine Elisabeth; Svendsen, Margrethe; Tomkowicz, Aneta Ewa; Holte, Synnøve Emblem; Sollid, Stina Therese; Debowska, Aleksandra; Singsås, Hallvard; Rensvik, Marthe Landsverk; Lejon, Helle; Sørmo, Dag-Erik; Svare, Anders; Blika, Sigrid; Milova, Petya; Korsgaard, Elin; Husby, Øystein; Breivik, Lars Ertesvåg; Jørgensen, Anders Palmstrøm; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2022)
      Context: Autoimmune thyroid disease is the most common endocrine co-morbidity in autoimmune Addison's disease (AAD), but detailed investigations of prevalence and clinical course is lacking. Objective: Provide comprehensive ...
    • 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 ...
    • 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 ...
    • Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes 

      Oftedal, Bergithe Eikeland; Assing, Kristian; Baris, Safa; Safgren, Stephanie L.; Johansen, Isik S.; Jakobsen, Marianne Antonius; Babovic-Vuksanovic, Dusica; Agre, Katherine; Klee, Eric W.; Majcic, Emina; Ferré, Elise M.N.; Schmitt, Monica M.; DiMaggio, Tom; Rosen, Lindsey B.; Rahman, Muhammad; Chrysis, Dionisios; Giannakopoulos, Aristeidis; Garcia, Maria Tallon; González-Granado, Luis Ignacio; Stanley, Katherine; Galant-Swafford, Jessica; Suwannarat, Pim; Meyts, Isabelle; Lionakis, Michail S.; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2023)
      Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (AIRE) gene. More ...
    • Endocrine-related adverse conditions in patients receiving immune checkpoint inhibition: an ESE clinical practice guideline 

      Husebye, Eystein Sverre; Castinetti, Frederik; Criseno, Sherwin; Curigliano, Giuseppe; Decallonne, Brigitte; Fleseriu, Maria; Higham, Claire E.; Lupi, Isabella; Paschou, Stavroula A.; Toth, Miklos; van der Kooij, Monique; Dekkers, Olaf M. (Journal article; Peer reviewed, 2022)
      Immune checkpoint inhibitors (ICI) have revolutionized cancer treatment but are associated with significant autoimmune endocrinopathies that pose both diagnostic and treatment challenges. The aim of this guideline is to ...
    • 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 ...
    • Fear of Covid 19 during the third wave of infection in Norwegian patients with type 1 diabetes 

      Ueland, Grethe Åstrøm; Ernes, Tony; Madsen, Tone Vonheim; Husebye, Eystein Sverre; Sandberg, Sverre; Løvaas, Karianne Fjeld; Cooper, John (Journal article; Peer reviewed, 2022)
      Objective To study the fear of Covid 19 infection among Norwegian patients with type 1 diabetes. Research design and methods Fear of Covid 19 scale, a validated scale assessing the fear of Covid 19, was sent electronically ...