Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.

ABSTRACT:

Background

A number of heritable immune dysregulatory diseases result from defects affecting regulatory T (Treg) cell development, function, or both. They include immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, which is caused by mutations in forkhead box P3 (FOXP3), and IPEX-like disorders caused by mutations in IL-2 receptor α (IL2RA), signal transducer and activator of transcription 5b (STAT5b), and signal transducer and activator of transcription 1 (STAT1). However, the genetic defects underlying many cases of IPEX-like disorders remain unknown.

Objective

We sought to identify the genetic abnormalities in patients with idiopathic IPEX-like disorders.

Methods

We performed whole-exome and targeted gene sequencing and phenotypic and f

SUBMITTER: Charbonnier LM 

PROVIDER: S-EPMC4289093 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature