B cells play a central role in the pathogenesis of many autoimmune diseases. Therefore, understanding the mechanisms that regulate B-cell tolerance in humans is important for the development of new therapeutic strategies. Patients with monogenic diseases provide rare opportunities to study the impact of specific gene mutations on the regulation of human B cell tolerance. By this, we could show that alterations in B-cell receptor and Toll-like receptor (TLR) signaling pathways result in defective central B-cell tolerance.
