Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient

The non-homologous end joining (NHEJ) pathway is involved in the repair of the DNA double-strand breaks. Defects in NHEJ factors result in IR sensitivity, and in defects in V(D)J recombination leading to immunodeficiency. DNA Ligase IV is an essential component that performs the final ‘end processing’ step of NHEJ. This article is protected by copyright. All rights reserved.