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

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

Background Although autoimmunity and hyperinflammation secondary to recombination
activating gene (RAG) deficiency have been associated with delayed diagnosis and even …

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 …

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 …

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+ …

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

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 …

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 …