A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency
H Abolhassani, N Wang, A Aghamohammadi… - Journal of allergy and …, 2014 - Elsevier
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+
B+ NK+ phenotype. Objective We sought to assess the genetic background of patients with
common variable immunodeficiency (CVID). Methods A patient given a diagnosis of CVID,
who was born to a consanguineous family and thus would be expected to show an
autosomal recessive inheritance, was subjected to clinical evaluation, immunologic assays …
spectrum of combined immunodeficiency, ranging from a T− B− NK+ type of disease to a T+
B+ NK+ phenotype. Objective We sought to assess the genetic background of patients with
common variable immunodeficiency (CVID). Methods A patient given a diagnosis of CVID,
who was born to a consanguineous family and thus would be expected to show an
autosomal recessive inheritance, was subjected to clinical evaluation, immunologic assays …
