WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity

J Exp Med. 2011 Sep 26;208(10):2033-42. doi: 10.1084/jem.20110200. Epub 2011 Aug 29.

Abstract

Patients with the immunodeficiency Wiskott-Aldrich syndrome (WAS) frequently develop systemic autoimmunity. Here, we demonstrate that mutation of the WAS gene results in B cells that are hyperresponsive to B cell receptor and Toll-like receptor (TLR) signals in vitro, thereby promoting a B cell-intrinsic break in tolerance. Whereas this defect leads to autoantibody production in WAS protein-deficient (WASp(-/-)) mice without overt disease, chimeric mice in which only the B cell lineage lacks WASp exhibit severe autoimmunity characterized by spontaneous germinal center formation, class-switched autoantibodies, renal histopathology, and early mortality. Both T cell help and B cell-intrinsic TLR engagement play important roles in promoting disease in this model, as depletion with anti-CD4 antibodies or generation of chimeric mice with B cells deficient in both WASp and MyD88 prevented development of autoimmune disease. These data highlight the potentially harmful role for cell-intrinsic loss of B cell tolerance in the setting of normal T cell function, and may explain why WAS patients with mixed chimerism after stem cell transplantation often develop severe humoral autoimmunity.

Publication types

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

MeSH terms

  • Animals
  • Antibodies, Antinuclear / immunology
  • Autoantibodies / immunology
  • Autoimmunity / immunology*
  • B-Lymphocytes / immunology*
  • B-Lymphocytes / physiology
  • CD4-Positive T-Lymphocytes / immunology
  • Chimera
  • Female
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Myeloid Differentiation Factor 88 / immunology
  • Receptors, Antigen, B-Cell / immunology
  • Toll-Like Receptors / immunology
  • Wiskott-Aldrich Syndrome Protein / deficiency*
  • Wiskott-Aldrich Syndrome Protein / genetics

Substances

  • Antibodies, Antinuclear
  • Autoantibodies
  • Myd88 protein, mouse
  • Myeloid Differentiation Factor 88
  • Receptors, Antigen, B-Cell
  • Toll-Like Receptors
  • Wiskott-Aldrich Syndrome Protein