REGULATORY T CELLS DYSFUNCTION IN INDIVIDUALS WITH TRISOMY 21

SMITH, KEITH; ROSELLI, EMILIANO; ESPINOSA, JOAQUIN M; NUÑEZ, NICOLAS GONZALO; MACCIONI, MARIANA; WAUGH, KATHERINE; ARAYA, PAULA

Buenos Aires

Congreso; REUNION CONJUNTA DE SOCIEDADES DE BIOCIENCIA. LXV ANNUAL SCIENTIFIC MEETING OF SOCIEDAD ARGENTINA DE INMUNOLOGÍA; 2017

CIBICI-SAI

Trisomy 21 (T21) is the most common genetic disorder in human population, occurring in approximately 1 in 700 live births. Individuals with T21 have a unique disease spectrum and a hyperactivated Type I interferon signaling, which could be a result of increased gene dosage of the four IFN receptor subunits encoded on chr21. T21 causes widespread alterations in gene expression across the genome, including, most prominently, consistent activation of the interferon transcriptional response. Based on this and the fact that individuals with T21 are predisposed to develop autoimmune diseases, we decided to dissect Treg functionality in individuals with T21, focusing on the effect that the type I IFN-IFNAR axis could have on its biology. We characterized the circulating Treg cells and T cells subsets in individuals with or without T21 using multicolor Flow Cytometry. Individuals with T21 (n=9) have a significantly alteration in the CD4/CD8 ratio (p