Impaired in vitro regulatory T cell function associated with Wiskott-Aldrich syndrome

Clin Immunol. 2007 Jul;124(1):41-8. doi: 10.1016/j.clim.2007.02.001. Epub 2007 May 18.

Abstract

Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency characterized by the contradictory coexistence of impaired T-cell function and exaggerated T-cell-mediated pathology, including autoimmunity and eczema. WAS protein (WASp)-deficient mice are also immunodeficient and can develop autoimmune disease. Since defects in regulatory T-cells (Treg) are associated with autoimmunity, we examined the presence and function of these cells in WAS patients and WASp-deficient mice. We found that CD4(+)CD25(+)FOXP3(+) Treg cells can develop in the absence of WASp expression. However, Treg cells both from WASp-deficient mice and from four out of five WAS patients studied showed impaired in vitro suppressor function. In WASp-deficient mice, this defect could be partially rescued by pre-activation with IL-2, suggesting that inadequate cell activation may play a role in WASp-deficient Treg dysfunction. These findings may provide insights into the complex pathophysiology and paradoxical phenotypes of WAS and suggest new therapeutic modalities for autoimmunity in these patients.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Adoptive Transfer
  • Adult
  • Animals
  • Autoimmunity / genetics
  • Autoimmunity / immunology
  • CD4-Positive T-Lymphocytes
  • Child, Preschool
  • Flow Cytometry
  • Forkhead Transcription Factors / immunology
  • Humans
  • Interleukin-2 / immunology
  • Lymphocyte Activation
  • Mice
  • Mice, Knockout
  • Receptors, Interleukin-2
  • T-Lymphocytes, Regulatory / immunology*
  • Wiskott-Aldrich Syndrome / genetics*
  • Wiskott-Aldrich Syndrome / immunology*
  • Wiskott-Aldrich Syndrome Protein / deficiency
  • Wiskott-Aldrich Syndrome Protein / genetics
  • Wiskott-Aldrich Syndrome Protein / immunology*

Substances

  • Forkhead Transcription Factors
  • Interleukin-2
  • Receptors, Interleukin-2
  • Wiskott-Aldrich Syndrome Protein