Impact of G167R mutation in CHUK gene, coding for IKKα protein, on gene expression in PBMCs

IKKα 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 IKKα protein, leading to G167R amino acid change in the kinase domain of the protein. This mutation impairs the kinase activity of IKKα, which results in a range of aberratins in innate and adaptive immunity. To investigate the impact of G167R mutation in IKKα, we performed RNA-sequencing on PBMCs from 2 patients and 3 healthy controls.