B Cells and Autoantibodies in AIRE Deficiency

• Published in: Biomedicines Vol. 9; no. 9; p. 1274
• Main Authors: Wolff, Anette S B, Braun, Sarah, Husebye, Eystein S, Oftedal, Bergithe E
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 21.09.2021; MDPI
• Subjects: AIRE protein; Animal models; Antibodies; Antigens; Autoantibodies; Autoimmune diseases; autoimmune polyendocrine syndrome type 1 (APS-1); B-cell dependent therapy; B-cells; Cell therapy; Clonal selection; Endocrine disorders; Immunological tolerance; Lymphocytes; Lymphocytes B; Lymphocytes T; Lymphoma; mouse models of Aire deficiency; Mutation; Negative selection; Review; Thymus; Thymus gland; B-cells; autoimmune polyendocrine syndrome type 1 (APS-1); autoantibodies; mouse models of Aire deficiency; B-cell dependent therapy
• ISSN: 2227-9059; 2227-9059
• DOI: 10.3390/biomedicines9091274

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.