ABSTRACT Recombination‐activating genes (RAG1 and RAG2) encode lymphoid‐specific proteins that are essential for V(D)J recombination during early T‐ and B‐lymphocyte development. Biallelic mutations in these genes result in a broad spectrum of primary immunodeficiency phenotypes, ranging from classical severe combined immunodeficiency (SCID) to combined immunodeficiency, immune dysregulation, autoimmunity, and inflammatory complications. The immunological phenotype varies widely, from T‐B‐NK+ severe combined immunodeficiency (SCID) to combined immunodeficiency (CID), or near‐normal T and B cell counts, and even antibody deficiencies despite preserved pathogen‐specific antibody responses. In this cohort, we aimed to characterize the clinical, immunological, and genetic features, as well as the disease course, of patients diagnosed with RAG1 and RAG2 deficiencies.
Turan et al. (Wed,) studied this question.