• 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 ...
    • Autoantibody discovery across monogenic, acquired, and COVID-19-associated autoimmunity with scalable PhIP-seq 

      Vazquez, Sara E.; Mann, Sabrina A.; Bodansky, Aaron; Kung, Andrew F.; Quandt, Zoe; Ferré, Elise M N; Landegren, Nils; Eriksson, Daniel; Bastard, Paul; Zhang, Shen-Ying; Liu, Jamin; Mitchell, Anthea; Proekt, Irina; Yu, David; Mandel-Brehm, Caleigh; Wang, Chung-Yu; Miao, Brenda; Sowa, Gavin; Zorn, Kelsey; Chan, Alice Y.; Tagi, Veronica M.; Shimizu, Chisato; Tremoulet, Adriana; Lynch, Kara; Wilson, Michael R.; Kämpe, Olle; Dobbs, Kerry; Delmonte, Ottavia M.; Bacchetta, Rosa; Notarangelo, Luigi D.; Burns, Jane C.; Casanova, Jean-Laurent; Lionakis, Michail S.; Torgerson, Troy R.; Anderson, Mark S.; DeRisi, Joseph L. (Journal article; Peer reviewed, 2022)
      Phage immunoprecipitation sequencing (PhIP-seq) allows for unbiased, proteome-wide autoantibody discovery across a variety of disease settings, with identification of disease-specific autoantigens providing new insight ...
    • 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 ...
    • Kidney complications and hospitalization in patients with chronic hypoparathyroidism: A cohort study in Sweden 

      Swartling, Oskar; Evans, Marie; Spelman, Tim; Kamal, Wafa; Kämpe, Olle; Mannstadt, Michael; Trolle Lagerros, Ylva; Björnsdottir, Sigridur (Journal article; Peer reviewed, 2022)
      Context: Kidney complications may be considerably higher in patients with chronic hypoparathyroidism (hypoPT) treated with activated vitamin D and calcium supplementation. Objective: We aimed to investigate the risk of ...
    • Limited Genetic Overlap Between Overt Hashimoto's Thyroiditis and Graves' Disease in Twins: A Population-based Study 

      Skov, Jakob; Calissendorff, Jan; Eriksson, Daniel; Magnusson, Patrik K.; Kämpe, Olle; Bensing, Sophie; Kuja-Halkola, Ralf (Journal article; Peer reviewed, 2021)
      Context Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) are known to coaggregate in families, but the magnitude and nature of a shared etiology is unknown. Objectives To estimate the shared genetic influence on ...
    • 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 ...
    • Plasma-Metanephrines in Patients with Autoimmune Addison’s Disease with and without Residual Adrenocortical Function 

      Åkerman, Anna-Karin; Sævik, Åse Bjorvatn; Thorsby, Per Medbøe; Methlie, Paal; Quinkler, Marcus; Jørgensen, Anders Palmstrøm; Höybye, 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; Wahlberg, Jeanette; Holte, Synnøve Emblem; Simunkova, Katerina; Kämpe, Olle; Husebye, Eystein Sverre; Øksnes, Marianne; Bensing, Sophie (Journal article; Peer reviewed, 2023-05-22)
      Purpose: Residual adrenocortical function, RAF, has recently been demonstrated in one-third of patients with autoimmune Addison’s disease (AAD). Here, we set out to explore any influence of RAF on the levels of plasma ...
    • 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 ...
    • 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 ...
    • 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 ...
    • Shared etiology of type 1 diabetes and Hashimoto’s thyroiditis: a population-based twin study 

      Skov, Jakob; Kuja-Halkola, Ralf; Magnusson, Patrik K.E.; Gudbjörnsdottir, Soffia; Kämpe, Olle; Bensing, Sophie (Journal article; Peer reviewed, 2022)
      Objective Type 1 diabetes and Hashimoto’s thyroiditis frequently cluster in individuals and in families, indicating shared origins. The objective of this study was to investigate familial co-aggregation of these diseases ...