Browsing Bergen Open Research Archive by Author "Wolff, Anette Susanne Bøe"
Now showing items 1-20 of 20
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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 ... -
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 ... -
Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectives
Wolff, Anette Susanne Bøe; Kucuka, Isil; Oftedal, Bergithe Eikeland (Journal article; Peer reviewed, 2023)The adrenal glands are small endocrine glands located on top of each kidney, producing hormones regulating important functions in our body like metabolism and stress. There are several underlying causes for adrenal ... -
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 ... -
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 ... -
The natural history of 21-hydroxylase autoantibodies in autoimmune Addison’s disease
Wolff, Anette Susanne Bøe; Breivik, Lars Ertesvåg; Hufthammer, Karl Ove; Grytaas, Marianne; Bratland, Eirik; Husebye, Eystein Sverre; Oftedal, Bergithe Eikeland (Journal article; Peer reviewed, 2021)Background: The most common cause of primary adrenal failure (Addison’s disease) in the Western world is autoimmunity characterized by autoantibodies against the steroidogenic enzyme 21-hydroxylase (CYP21A2, 21OH). Detection ... -
A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1
Oftedal, Bergithe Eikeland; Berger, Amund Holte; Bruserud, Øyvind; Goldfarb, Yael; Sulen, André; Breivik, Lars Ertesvåg; Hellesen, Richard Alexander Svortevik; Haffner-Krausz, Rebecca; Knappskog, Per Morten; Johansson, Stefan; Wolff, Anette Susanne Bøe; Bratland, Eirik; Abramson, Jakub; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2023)Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the autoimmune regulator (AIRE) gene. Most patients present with severe chronic mucocutaneous candidiasis and organ-specific autoimmunity from early ... -
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 ... -
Potential Transcriptional Biomarkers to Guide Glucocorticoid Replacement in Autoimmune Addison's Disease
Sævik, Åse Bjorvatn; Wolff, Anette Susanne Bøe; Björnsdottir, Sigridur; Simunkova, Katerina; Hynne, Martha Schei; Dolan, David William Peter; Bratland, Eirik; Knappskog, Per M; Methlie, Paal; Carlsen, Siri; Isaksson, Magnus; Bensing, Sophie; Kämpe, Olof; Husebye, Eystein S; Løvås, Kristian; Øksnes, Marianne (Journal article; Peer reviewed, 2021)Background No reliable biomarkers exist to guide glucocorticoid (GC) replacement treatment in autoimmune Addison’s disease (AAD), leading to overtreatment with alarming and persistent side effects or undertreatment, which ... -
Regulatory T cells in autoimmune primary adrenal insufficiency
Sjøgren, Thea; Bjune, Jan-Inge; Husebye, Eystein Sverre; Oftedal, Bergithe Eikeland; Wolff, Anette Susanne Bøe (Journal article; Peer reviewed, 2024)Primary adrenal insufficiency (PAI) is most often caused by an autoimmune destruction of the adrenal cortex resulting in failure to produce cortisol and aldosterone. The aetiology is thought to be a combination of genetic ... -
Systemic Activation of the Kynurenine Pathway in Graves Disease With and Without Ophthalmopathy
Ueland, Hans Olav; Ulvik, Arve; Løvås, Kristian; Wolff, Anette Susanne Bøe; Breivik, Lars Ertesvåg; Stokland, Ann-Elin Meling; Rødahl, Eyvind; Nilsen, Roy Miodini; Husebye, Eystein Sverre; Ueland, Grethe Åstrøm (Journal article; Peer reviewed, 2023)Context Graves disease (GD) is one of the most common autoimmune disorders. Recent literature has shown an immune response involving several different inflammatory related proteins in these patients. Objective This ... -
Systemic interferon type I and B cell responses are impaired in autoimmune polyendocrine syndrome type 1
Oftedal, Bergithe Eikeland; Delaleu, Nicolas; Dolan, David William Peter; Meager, Anthony; Husebye, Eystein Sverre; Wolff, Anette Susanne Bøe (Journal article; Peer reviewed, 2023)Autoimmune polyendocrine syndrome type I (APS-1) is caused by mutations in the autoimmune regulator (AIRE) gene and characterised clinically by multiple autoimmune manifestations and serologically by autoantibodies against ... -
Transcriptional Changes in Regulatory T Cells From Patients With Autoimmune Polyendocrine Syndrome Type 1 Suggest Functional Impairment of Lipid Metabolism and Gut Homing
Berger, Amund Holte; Bratland, Eirik; Sjøgren, Thea; Heimli, Marte; Tyssedal, Torgeir; Bruserud, Øyvind; Johansson, Stefan; Husebye, Eystein Sverre; Oftedal, Bergithe Eikeland; Wolff, Anette Susanne Bøe (Journal article; Peer reviewed, 2021)Autoimmune polyendocrine syndrome type I (APS-1) is a monogenic model disorder of organ-specific autoimmunity caused by mutations in the Autoimmune regulator (AIRE) gene. AIRE facilitates the expression of organ-specific ... -
Vaccination prevents severe COVID-19 outcome in patients with neutralizing type 1 interferon autoantibodies
Wolff, Anette Susanne Bøe; Hansen, Lena; Grytaas, Marianne Aardal; Oftedal, Bergithe Eikeland; Breivik, Lars Ertesvåg; Zhou, Fan; Hufthammer, Karl Ove; Sjøgren, Thea; Olofsson, Jan Stefan; Trieu, Mai Chi; Meager, Anthony; Jørgensen, Anders Palmstrøm; Lima, Kari; Mohn, Kristin Greve-Isdahl; Langeland, Nina; Cox Brokstad, Rebecca Jane; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2023)A hallmark of patients with autoimmune polyendocrine syndrome type 1 (APS-1) is serological neutralizing autoantibodies against type 1 interferons (IFN-I). The presence of these antibodies has been associated with severe ...