• 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 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 ...
    • 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 ...
    • Analysis of cellular and humoral immune responses against cytomegalovirus in patients with autoimmune Addison’s disease 

      Edvardsen, Kine; Hellesen, Alexander; Husebye, Eystein S; Bratland, Eirik (Peer reviewed; Journal article, 2016-03-09)
      Background. Autoimmune Addison’s disease (AAD) is caused by multiple genetic and environmental factors. Variants of genes encoding immunologically important proteins such as the HLA molecules are strongly associated with ...
    • 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 ...
    • 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. ...
    • Increased infiltration and tolerised antigen-specific CD8+ TEM cells in tumor but not peripheral blood have no impact on survival of HCMV+ glioblastoma patients 

      Bahador, Marzieh; Gras Navarro, Andrea; Rahman, Mohummad Aminur; Dominguez Valentin, Mev; Sarowar, Shahin; Ulvestad, Elling; Njølstad, Gro; Lie, Stein Atle; Kristoffersen, Einar Klæboe; Bratland, Eirik; Enger, Martha Chekenya (Peer reviewed; Journal article, 2017)
      Human cytomegalovirus (HCMV) antigens in glioblastoma (GBM) present opportunities for personalised immunotherapy. However, their presence in GBM tissue is still under debate, and evidence of their impact on functional ...
    • 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 ...
    • 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 ...
    • 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 ...
    • Sequential bortezomib and temozolomide treatment promotes immunological responses in glioblastoma patients with positive clinical outcomes: A phase 1B study 

      Rahman, Mohummad Aminur; Brekke, Jorunn; Arnesen, Victoria Smith; Hannisdal, Marianne; Navarro, Andrea Gras; Waha, Andreas; Herfindal, Lars; Rygh, Cecilie Brekke; Bratland, Eirik; Brandal, Petter; Haász, Judit; Oltedal, Leif; Miletic, Hrvoje; Lundervold, Arvid; Lie, Stein Atle; Goplen, Dorota; Chekenya, Martha (Journal article; Peer reviewed, 2020)
      Background Glioblastoma (GBM) is an aggressive malignant brain tumor where median survival is approximately 15 months after best available multimodal treatment. Recurrence is inevitable, largely due to O6 methylguanine ...
    • The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients 

      Taule-Sivertsen, Peter; Bruland, Ove; Håvik, Aril Løge; Bratland, Eirik; Lund-Johansen, Morten; Knappskog, Per Morten (Journal article; Peer reviewed, 2021)
      Introduction Vestibular schwannoma (VS) is a benign intracranial tumor in which the underlying genetics is largely uncertain, apart from mutations in the tumor suppressor gene NF2. Alternative tumorigenic mechanisms have ...
    • 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 ...
    • Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism 

      Corder, Megan L.; Berland, Siren; Førsvoll, Jostein Andersen; Banerjee, Indraneel; Murray, Phil; Bratland, Eirik; Gokhale, David; Houge, Gunnar Douzgos; Houge, Sofia Douzgou (Journal article; Peer reviewed, 2022)
      Variants in transcription factor GLI2 have been associated with hypopituitarism and structural brain abnormalities, occasionally including holoprosencephaly (HPE). Substantial phenotypic variability and nonpenetrance have ...