A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency
Background 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 RAG1/2 genes result in various forms of primary immunodeficiency, ranging
from T− B− severe combined immune deficiency to delayed-onset disease with granuloma
formation, autoimmunity, or both. It is not clear what contributes to such heterogeneity of …
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 RAG1/2 genes result in various forms of primary immunodeficiency, ranging
from T− B− severe combined immune deficiency to delayed-onset disease with granuloma
formation, autoimmunity, or both. It is not clear what contributes to such heterogeneity of …