DNA repair defects and inborn errors of immunity: why we need to fix what is broken

Abstract

DNA damage is part and parcel of the life of a cell and an organism. Cells respond to DNA damage by initiating DNA damage response (DDR) pathways that allow for removal of the damaged DNA and subsequent repair. At least five major pathways of DNA repair operate in humans – base excision repair (BER), nucleotide excision repair (NER), mismatch repair (MMR) and DNA double-strand break repair (DSB), which involves homologous recombination (HR) and non-homologous end-joining (NHEJ). This talk will focus on DNA DSB repair, which is most commonly used in the immune system.