title: The role of X-linked FOXP3 in the autoimmune susceptibility of Turner Syndrome patients.
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.
authors.affiliation: Department of Pediatrics, University of California, San Francisco, CA 94143, USA.
authors.forename: Maureen A
authors.initials: MA
authors.lastname: Su
authors.forename: Matthew
authors.initials: M
authors.lastname: Stenerson
authors.forename: Weihong
authors.initials: W
authors.lastname: Liu
authors.forename: Amy
authors.initials: A
authors.lastname: Putnam
authors.forename: Felix
authors.initials: F
authors.lastname: Conte
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Bluestone
authors.forename: Mark S
authors.initials: MS
authors.lastname: Anderson
mesh_terms: D000293:Adolescent; D000328:Adult; D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology; D015551:Autoimmunity / Q000235:genetics / Q000276:immunology; D016516:CD4-CD8 Ratio; D016022:Case-Control Studies; D002648:Child; D041321:Chromosomes, Human, X; D005260:Female; D005434:Flow Cytometry; D051858:Forkhead Transcription Factors / Q000096:biosynthesis / Q000235:genetics / Q000276:immunology*; D006801:Humans; D016130:Immunophenotyping / Q000379:methods; D008875:Middle Aged; D013601:T-Lymphocytes / Q000276:immunology; D050378:T-Lymphocytes, Regulatory / Q000276:immunology; D014424:Turner Syndrome / Q000235:genetics* / Q000276:immunology*; D055815:Young Adult
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors