Systemic interferon type I and B cell responses are impaired in autoimmune polyendocrine syndrome type 1
Oftedal, Bergithe Eikeland; Delaleu, Nicolas; Dolan, David William Peter; Meager, Anthony; Husebye, Eystein Sverre; Wolff, Anette Susanne Bøe
Journal article, Peer reviewed
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Date
2023Metadata
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- Department of Clinical Science [2379]
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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.