Transcriptome analysis of T cells in chromosome 22q11.2 deletion syndrome

T cell lymphopenia in chromosome 22q11.2 deletion syndrome (22qDS) is related to varying degrees of thymic hypoplasia. No phenotype correlation with genotype or deletion size is known for lymphopenia. We hypothesized that T-cell transcriptome is different in 22qDS from healthy children and this difference is associated with lymphocyte counts and function leading to clinically diverse phenotypes.