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

DNA damage is part and parcel of the life a cell an organism. Cells respond to by initiating response (DDR) pathways that allow for removal damaged subsequent repair. At least five major repair operate in humans – base excision (BER), nucleotide (NER), mismatch (MMR) double-strand break (DSB), which involves homologous recombination (HR) non-homologous end-joining (NHEJ). This talk will focus on DSB repair, most commonly used immune system. Genetic diversity, through VDJ recombination, class-switch somatic hypermutation are essential T B cells, managed numerous pathways, but prominently defects genes associated with syndromic immunodeficiencies (e.g., ataxia telangiectasia, Nijmegen Breakage Snydrome) or radiosensitive forms severe combined immunodeficiency (rs-SCID), e.g., Artemis SCID, ligase IV defects, Cernunnos deficiency, DNA-PKcs among others. These conditions collectively called XCIND (X-ray/radiation sensitivity, cancer susceptibility, immunodeficiency, neurological development defects). provide overview discuss new flow cytometry assay, diagnosis these disorders clinical laboratory.