• E-mailamund.berger@uib.no
  • Visitor Address
    Haukeland universitetssykehus, Laboratoriebygget
    5009 Bergen
  • Postal Address
    Postboks 7804
    5020 Bergen

Researching gene expression of Autoimmune Polyendocrine Syndrom type 1 (APS-1) and Addison's disease, using bulk and single cell RNA sequencing.

Part of the K.G. Jebsen center for autoimmune diseases and the Genomics Group of the medical genetics department (MGM).

Selected publications
  • Berger, Amund Holte; Johansson, Stefan; Knappskog, Per. 2018. Sensing foul AIRE: Investigating possible reporter genes for AIRE mutations. Klinisk institutt 2, Universitetet i Bergen.
Academic article
  • Show author(s) (2023). A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1. Journal of Clinical Investigation.
  • Show author(s) (2022). BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories. Familial Cancer. 389-398.
  • Show author(s) (2021). Transcriptional changes in regulatory T cells from patients with autoimmune polyendocrine syndrome type 1 suggest functional impairment of lipid metabolism and gut homing. Frontiers in Immunology. 1-12.
  • Show author(s) (2021). Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE autoregulation. Journal of Experimental Medicine (JEM).
  • Show author(s) (2021). GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility. Nature Communications. 1-14.

More information in national current research information system (CRIStin)