A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> gene

Abstract

We describe a previously unrecognised autosomal recessive disorder caused by <i>AGR2</i> variants. <i>AGR2</i>-related disease should be considered as a differential diagnosis in patients presenting a CF-like phenotype. This has implications for the molecular diagnosis and management of these patients. AGR2 LoF is likely the disease mechanism, with consequent impairment of the mucociliary defence machinery. Future studies should aim to establish a better understanding of the disease pathophysiology and to identify potential drug targets.