Background Recombination-activating gene (RAG) 1 and 2 deficiency is seen in patients
with severe combined immunodeficiency (SCID) and Omenn syndrome. However, the …

Loss of function mutations in the recombination activating genes RAG1 and RAG2 have
been reported to cause a TB-NK+ type of severe combined immunodeficiency. In addition …

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

Proteins expressed by recombination activating genes 1 and 2 (RAG1/2) are essential in the
process of V (D) J recombination that leads to generation of the T and B cell repertoires …

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

Background Recombination-activating gene 1 (RAG1) deficiency presents with a varied
spectrum of combined immunodeficiency, ranging from a T− B− NK+ type of disease to a T+ …

Combined immunodeficiencies with impaired numbers and function of T-and B-cells can be
attributed to defects in the recombinase activating genes (RAG). The products of these …

Severe combined immune deficiency (SCID) is a group of genetic disorder associated with
development of T-and/or B-lymphocytes. Recombination-activating genes (RAG1/2) play a …

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 …

Purpose Combined immunodeficiency (CID) presents a unique challenge to clinicians. Two
patients presented with the prior clinical diagnosis of common variable immunodeficiency …