RAG1 reversion mosaicism in a patient with Omenn syndrome.

ABSTRACT:

Purpose

To identify mechanisms of disease in a child born to consanguineous parents, who presented with Omenn syndrome (OS) and was found to carry a heterozygous RAG1 mutation in peripheral blood DNA.

Methods

Mutation analysis was performed on whole blood and buccal swab DNA. Recombination activity of the mutant RAG1 protein and diversity of T cell repertoire were tested.

Results

Apparent heterozygosity for a novel, functionally null RAG1 mutation in peripheral blood DNA from a patient with OS was shown to be secondary to true somatic reversion. Analysis of T cell repertoire demonstrated expression of various TCRBV families, but an overall restricted pattern.

Conclusions

This is the first case of true somatic reversion of a RAG1 mutation in a patient with OS. T

SUBMITTER: Crestani E 

PROVIDER: S-EPMC4074377 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature