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 …

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

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+ …

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

Purpose Hypomorphic mutations in RAG1 and RAG2 are associated with significant clinical
heterogeneity and symptoms of immunodeficiency or autoimmunity may be late in …

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

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

Genetic defects in recombination activating genes (RAG) 1 and 2 cause a broad spectrum of
severe immune defects ranging from early severe and repeated infections to inflammation …

Destructive midline granulomatous disease characterized by necrotizing granulomas of the
head and neck is most commonly caused by Wegener granulomatosis, natural killer/T-cell …