Biomedicines (Sep 2021)

B Cells and Autoantibodies in AIRE Deficiency

  • Anette S. B. Wolff,
  • Sarah Braun,
  • Eystein S. Husebye,
  • Bergithe E. Oftedal

Journal volume & issue
Vol. 9, no. 9
p. 1274


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Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare but severe monogenetic autoimmune endocrine disease caused by failure of the Autoimmune Regulator (AIRE). AIRE regulates the negative selection of T cells in the thymus, and the main pathogenic mechanisms are believed to be T cell-mediated, but little is known about the role of B cells. Here, we give an overview of the role of B cells in thymic and peripheral tolerance in APS-1 patients and different AIRE-deficient mouse models. We also look closely into which autoantibodies have been described for this disorder, and their implications. Based on what is known about B cell therapy in other autoimmune disorders, we outline the potential of B cell therapies in APS-1 and highlight the unresolved research questions to be answered.