Traditionally, primary immune deficiencies have been defined based on increased
susceptibility to recurrent and/or severe infections. However, immune dysregulation …

Purpose To review the clinical and laboratory spectrum of RAG gene defects in humans, and
discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune …

The RAG1 and RAG2 proteins initiate the process of V (D) J recombination and therefore
play an essential role in adaptive immunity. While null mutations in the RAG genes cause …

Mutations of the recombinase activating genes (RAG) in humans underlie a broad spectrum
of clinical and immunological phenotypes that reflect different degrees of impairment of T …

Patients with mutations of the recombination-activating genes (RAG) present with diverse
clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity …

Patients with mutations of the recombination-activating genes (RAG) present with diverse
clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity …

Abstract Recombination-activating genes (RAG) 1 and RAG2 initiate the molecular
processes that lead to lymphocyte receptor formation through VDJ recombination. Nonsense …

The recombination-activating gene 1 (RAG1) and RAG2 proteins initiate the V (D) J
recombination process, which ultimately enables the generation of T cells and B cells with a …

Hypomorphic mutations that lead to “leaky” severe combined immunodeficiency
presentation with partial protein function are increasingly being identified. Mutations in …

Mutations in recombination activating genes 1 and 2 (RAG1 and RAG2) cause a spectrum of
severe immunodeficiencies ranging from classical T cell–B cell–severe combined …