Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency

From lymphoblastoid cell lines derived from two homozygous CARD11-deficient patients and two heterozygous parents of the first patient, we performed differential expression analysis, gene set enrichment, and pathway analyses by RNA-Seq to demonstrate impaired activation of critical immune pathways. Transcriptome profiling of lymphoblastoid cell lines derived from 2 homozygous CARD11-deficient patients and 2 heterozygous parents in technical triplicate for 4 individuals, with or without stimulation (4hrs with 50ng/mL PMA + 1uM Ionomycin).