Effect of R22W mutation in TFRC gene on gene expression in PBMCs
TFRC, also known as CD71, regulates the uptake of transferrin-bound iron into cells through receptor-mediated endocytosis. In a patient with a combined immunodeficiency, we identified a homozygous missense mutation in TFRC gene leading to R22W amino acid change in the cytoplasmic tail of the receptor. This mutation impairs the endocytosis of TFRC, which results in profound aberrations in the immune system. Overall design: To investigate the impact of R22W mutation in TFRC, we performed RNA-sequencing on PBMCs from the patient as well as 3 age-matched healthy controls.