CVID-associated TACI mutations affect autoreactive B cell selection and activation

J Clin Invest. 2013 Oct;123(10):4283-93. doi: 10.1172/JCI69854. Epub 2013 Sep 24.

Abstract

Common variable immune deficiency (CVID) is an assorted group of primary diseases that clinically manifest with antibody deficiency, infection susceptibility, and autoimmunity. Heterozygous mutations in the gene encoding the tumor necrosis factor receptor superfamily member TACI are associated with CVID and autoimmune manifestations, whereas two mutated alleles prevent autoimmunity. To assess how the number of TACI mutations affects B cell activation and tolerance checkpoints, we analyzed healthy individuals and CVID patients carrying one or two TACI mutations. We found that TACI interacts with the cleaved, mature forms of TLR7 and TLR9 and plays an important role during B cell activation and the central removal of autoreactive B cells in healthy donors and CVID patients. However, only subjects with a single TACI mutation displayed a breached immune tolerance and secreted antinuclear antibodies (ANAs). These antibodies were associated with the presence of circulating B cell lymphoma 6-expressing T follicular helper (Tfh) cells, likely stimulating autoreactive B cells. Thus, TACI mutations may favor CVID by altering B cell activation with coincident impairment of central B cell tolerance, whereas residual B cell responsiveness in patients with one, but not two, TACI mutations enables autoimmune complications.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antibodies, Antinuclear / metabolism
  • Autoantibodies / metabolism
  • B-Cell Activating Factor / blood
  • B-Lymphocytes / immunology*
  • B-Lymphocytes / metabolism
  • Case-Control Studies
  • Cell Proliferation
  • Cells, Cultured
  • Central Tolerance
  • Common Variable Immunodeficiency / blood
  • Common Variable Immunodeficiency / genetics*
  • Common Variable Immunodeficiency / immunology
  • DNA-Binding Proteins / metabolism
  • Gene Dosage
  • Heterozygote
  • Humans
  • Lymphocyte Activation*
  • Male
  • Middle Aged
  • Mutation
  • Peripheral Tolerance
  • Proto-Oncogene Proteins c-bcl-6
  • T-Lymphocytes, Helper-Inducer / immunology
  • T-Lymphocytes, Helper-Inducer / metabolism
  • Toll-Like Receptor 7 / metabolism
  • Toll-Like Receptor 9 / metabolism
  • Transmembrane Activator and CAML Interactor Protein / genetics*

Substances

  • Antibodies, Antinuclear
  • Autoantibodies
  • B-Cell Activating Factor
  • BCL6 protein, human
  • DNA-Binding Proteins
  • Proto-Oncogene Proteins c-bcl-6
  • TLR7 protein, human
  • TLR9 protein, human
  • TNFRSF13B protein, human
  • TNFSF13B protein, human
  • Toll-Like Receptor 7
  • Toll-Like Receptor 9
  • Transmembrane Activator and CAML Interactor Protein