The role of X-linked FOXP3 in the autoimmune susceptibility of Turner Syndrome patients

Clin Immunol. 2009 Apr;131(1):139-44. doi: 10.1016/j.clim.2008.11.007. Epub 2009 Jan 15.

Abstract

Turner Syndrome patients have an absent second sex chromosome and a predisposition to autoimmune disease. We hypothesized that the autoimmune susceptibility in Turner Syndrome may be due to an alteration in the expression of the X-linked FOXP3 gene. FOXP3 is important in the development of regulatory T cells, and complete loss of FOXP3 expression has been shown to result in severe autoimmunity. To test this hypothesis, we characterized the regulatory T cells and performed immunophenotyping on the peripheral blood leukocytes of a cohort of Turner Syndrome patients. These patients retained regulatory T cell frequency and function despite an increased prevalence of autoimmunity. Immunophenotyping revealed a decrease in the ratio of CD4 to CD8 lymphocytes. These findings suggest that the autoimmune predisposition in Turner Syndrome is not due to alterations in regulatory T cells but may be associated with a change in the proportion of T cell subsets.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / immunology
  • Autoimmunity / genetics
  • Autoimmunity / immunology
  • CD4-CD8 Ratio
  • Case-Control Studies
  • Child
  • Chromosomes, Human, X*
  • Female
  • Flow Cytometry
  • Forkhead Transcription Factors / biosynthesis
  • Forkhead Transcription Factors / genetics
  • Forkhead Transcription Factors / immunology*
  • Humans
  • Immunophenotyping / methods
  • Middle Aged
  • T-Lymphocytes / immunology
  • T-Lymphocytes, Regulatory / immunology
  • Turner Syndrome / genetics*
  • Turner Syndrome / immunology*
  • Young Adult

Substances

  • FOXP3 protein, human
  • Forkhead Transcription Factors