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Wild-type FOXP3 is selectively active in CD4(+)CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations
Wild-type FOXP3 is selectively active in CD4(+)CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations BLOOD Di Nunzio, S., Cecconi, M., Passerini, L., McMurchy, A. N., Baron, U., Turbachova, I., Vignola, S., Valencic, E., Tommasini, A., Junker, A., Cazzola, G., Olek, S., Levings, M. K., Perroni, L., Roncarolo, M. G., Bacchetta, R. 2009; 114 (19): 4138-4141Abstract
Forkhead box P3 (FOXP3) is constitutively expressed by CD4(+)CD25(hi) regulatory T cells (nTregs). Mutations of FOXP3 cause a severe autoimmune syndrome known as immune dysregulation polyendocrinopathy enteropathy X-linked, in which nTregs are absent or dysfunctional. Whether FOXP3 is essential for both differentiation and function of human nTreg cells remains to be demonstrated. Because FOXP3 is an X-linked gene subject to X-chromosome inactivation (XCI), we studied 9 healthy female carriers of FOXP3 mutations to investigate the role of wild-type (WT) versus mutated FOXP3 in different cell subsets. Analysis of active WT versus mutated (mut)-FOXP3 allele distribution revealed a random pattern of XCI in peripheral blood lymphocytes and in naive and memory CD4(+)T cells, whereas nTregs expressed only the active WT-FOXP3. These data demonstrate that expression of WT-FOXP3 is indispensable for the presence of a normal nTreg compartment and suggest that FOXP3 is not necessary for effector T-cell differentiation in humans.
View details for DOI 10.1182/blood-2009-04-214593
View details for Web of Science ID 000271495500026
View details for PubMedID 19738030