Abstract

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.

Highlights

  • B cells play a central role in the pathogenesis of many autoimmune diseases

  • We could show that alterations in B-cell receptor and Toll-like receptor (TLR) signaling pathways result in defective central B-cell tolerance

  • To further dissect the signaling pathways involved in the establishment of central B-cell tolerance in humans, we tested by ELISA and immunofluorescence the reactivity of recombinant antibodies cloned from single transitional B cells from individuals carrying CD19 mutations

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Summary

Introduction

B cells play a central role in the pathogenesis of many autoimmune diseases. understanding the mechanisms that regulate B-cell tolerance in humans is important for the development of new therapeutic strategies. Molecular dissection of human B-cell tolerance – insights from patients with rare genetic diseases B cells play a central role in the pathogenesis of many autoimmune diseases.

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