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. 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
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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.

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