STK4 deficiency underlies impaired interferon signaling and T cell immunity

We investigated transcriptional responses following in vitro stimulation of peripheral blood mononuclear cells (PBMCs) obtained from a patient with inherited STK4 deficiency. Samples from the heterozygous parents and unrelated healthy donors with a wild-type genotype were analyzed for comparison. Overall design: PBMCs from the STK4-deficient patient, the parents and from three healthy unrelated donors were stimulated for 2 hours either with IFNa+IFNb, or PMA+Iononycin. Each subject and condition was assessed in duplicate and samples were subjected for mRNA sequencing.