Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 May;597(9):1261-1274.
doi: 10.1002/1873-3468.14625. Epub 2023 Apr 20.

Systemic interferon type I and B cell responses are impaired in autoimmune polyendocrine syndrome type 1

Bergithe E Oftedal  1   2   3 , Nicolas Delaleu  4 , David Dolan  2   5 , Anthony Meager  6 , Eystein S Husebye  1   2   3 , Anette S B Wolff  1   2   3
Affiliations
Free article

Systemic interferon type I and B cell responses are impaired in autoimmune polyendocrine syndrome type 1

Bergithe E Oftedal et al. FEBS Lett. 2023 May.
Free article

Abstract

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 tissue proteins and cytokines. We here hypothesised that lack of AIRE expression in thymus affects blood immune cells and performed whole-blood microarray analysis (N = 16 APS-I patients vs 16 controls), qPCR verification, and bioinformatic deconvolution of cell subsets. We identified B cell responses as being downregulated in APS-1 patients, which was confirmed by qPCR; these results call for further studies on B cells in this disorder. The type I interferon (IFN-I) pathway was also downregulated in APS-1, and the presence of IFN antibodies is the likely reason for this mild overall downregulation of the IFN-I genes in most APS-1 patients.

Keywords: AIRE; APS-1; blood; interferon type 1; transcriptome.

PubMed Disclaimer

References

    1. Husebye ES, Anderson MS and Kampe O (2018) Autoimmune Polyendocrine Syndromes. N Engl J Med 22 (378), 1132-1141.
    1. Wolff AS, Erichsen MM, Meager A et al. (2007) Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab 92, 595-603.
    1. Anderson MS, Venanzi ES, Klein L et al. (2002) Projection of an immunological self shadow within the thymus by the aire protein. Science 15 (298), 1395-1401.
    1. Liston A, Lesage S, Wilson J, Peltonen L and Goodnow CC (2003) Aire regulates negative selection of organ-specific T cells. Nat Immunol 4, 350-354.
    1. Fierabracci A (2011) Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity. Autoimmun Rev 10, 137-143.

Publication types

LinkOut - more resources