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 …

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

Introduction: Patients with primary immunodeficiency secondary to abnormal recombinase
activating genes (RAG) can present with broad clinical phenotypes ranging from early …

Purpose We described clinical, immunological, and molecular characterization within a
cohort of 22 RAG patients focused on the possible correlation between clinical and genetic …

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 …

Mutations in the recombination activating gene 1 (RAG1) and RAG2 in humans are
associated with a broad spectrum of clinical phenotypes, from severe combined …

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

Severe combined immunodeficiencies (SCID) comprise a spectrum of genetic defects that
involve both humoral and cellular immunities. Defects in recombinating activating gene 1 …

Hypomorphic RAG1 mutations allowing residual T-and B-cell development have been found
in patients presenting with delayed-onset combined immune deficiency with granulomas …