Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes
H IJspeert, GJ Driessen, MJ Moorhouse… - Journal of allergy and …, 2014 - Elsevier
Background V (D) J recombination takes place during lymphocyte development to generate
a large repertoire of T-and B-cell receptors. Mutations in recombination-activating gene 1
(RAG1) and RAG2 result in loss or reduction of V (D) J recombination. It is known that
different mutations in RAG genes vary in residual recombinase activity and give rise to a
broad spectrum of clinical phenotypes. Objective We sought to study the immunologic
mechanisms causing the clinical spectrum of RAG deficiency. Methods We included 22 …
a large repertoire of T-and B-cell receptors. Mutations in recombination-activating gene 1
(RAG1) and RAG2 result in loss or reduction of V (D) J recombination. It is known that
different mutations in RAG genes vary in residual recombinase activity and give rise to a
broad spectrum of clinical phenotypes. Objective We sought to study the immunologic
mechanisms causing the clinical spectrum of RAG deficiency. Methods We included 22 …