A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency

Background null The recombination-activating gene (RAG) 1/2 proteins play a critical role in the development of T and B cells by initiating the VDJ recombination process that leads to generation of a broad T-cell receptor (TCR) and B-cell receptor repertoire. Pathogenic mutations in the null RAG1/2 null genes result in various forms of primary immunodeficiency, ranging from T − B − null severe combined immune deficiency to delayed-onset disease...