A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

ABSTRACT:

Background

The recombination-activating gene (RAG) 1/2 proteins play a critical role in the development of T and B cells by initiating the VDJ recombination process that leads to generation of a broad T-cell receptor (TCR) and B-cell receptor repertoire. Pathogenic mutations in the RAG1/2 genes result in various forms of primary immunodeficiency, ranging from T(-)B(-) severe combined immune deficiency to delayed-onset disease with granuloma formation, autoimmunity, or both. It is not clear what contributes to such heterogeneity of phenotypes.

Objective

We sought to investigate the molecular basis for phenotypic diversity presented in patients with various RAG1 mutations.

Methods

We have developed a flow cytometry-based assay that allows analysis of RAG recombination a

SUBMITTER: Lee YN 

PROVIDER: S-EPMC4005599 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature