T cell transriptome in chromosome 22q11.2 deletion syndrome

We performed transcriptome analysis via RNA sequencing of T cells isolated from participants with and without 22qDS and T cells of 22qDS participants with low or normal number of T cells. A single-centered study involving a convenience sample of participants along with retrospective chart review. This IRB approved study included patients referred to a multidisciplinary clinic for management of chromosome 22q11.2 deletion syndrome. Healthy controls were recruited by recruitment announcements in the hospital. Peripheral blood was collected from participants aged 5-8 years. Immune function testing was performed. RNA sequencing was completed on isolated T cells; and differential gene expression profiles of T cells between 22qDS and healthy controls were established.