Impact of G167R mutation in CHUK gene, coding for IKKa protein, on gene expression in PBMCs
IKKa is a critical regulator of the non-canonical NF-KB signalling pathway. In patients with combined immunodeficiency, we identified a homozygous missense mutation in CHUK gene, coding for IKKa protein, leading to G167R amino acid change in the kinase domain of the protein. This mutation impairs the kinase activity of IKKa, which results in a range of aberratins in innate and adaptive immunity. Overall design: To investigate the impact of G167R mutation in IKKa, we performed RNA-sequencing on PBMCs from 2 patients and 3 healthy controls.