• 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 ...
    • 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 ...
    • 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 ...
    • Revealing missing human protein isoforms based on Ab initio prediction, RNA-seq and proteomics 

      Hu, Zhiqiang; Scott, Hamish S.; Qin, Guangrong; Zheng, Guangyong; Chu, Xixia; Xie, Lu; Adelson, David L.; Oftedal, Bergithe Eikeland; Venugopal, Parvathy; Babic, Milena; Hahn, Christopher N.; Zhang, Bing; Wang, Xiaojing; Li, Nan; Wei, Chaochun (Peer reviewed; Journal article, 2015-07-09)
      Biological and biomedical research relies on comprehensive understanding of protein-coding transcripts. However, the total number of human proteins is still unknown due to the prevalence of alternative splicing. In this ...
    • T cell receptor assessment in autoimmune disease requires access to the most adjacent immunologically active organ 

      Oftedal, Bergithe Eikeland; Ardesjo Lundgren, Brita; Hamm, David; Gan, Poh-Yi; Holdsworth, Stephen R; Hahn, Christopher N.; Schreiber, Andreas W.; Scott, Hamish S. (Peer reviewed; Journal article, 2017-07)
      Next generation sequencing of T and B cell receptors is emerging as a valuable and effective method to diagnose and monitor hematopoietic malignancies. So far, this approach has not been fully explored in regard to autoimmune ...