LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.

ABSTRACT:

Background

Clinical immunology has traditionally relied on accurate phenotyping of the patient's immune dysfunction for the identification of a candidate gene or genes for sequencing and molecular confirmation. Although this is also true for other branches of medicine, the marked variability in immune-related phenotypes and the highly complex network of molecules that confer normal host immunity are challenges that clinical immunologists often face in their quest to establish a specific genetic diagnosis.

Objective

We sought to identify the underlying genetic cause in a consanguineous family with chronic inflammatory bowel disease-like disorder and combined immunodeficiency.

Methods

We performed exome sequencing followed by autozygome filtration.

Results

A trun

SUBMITTER: Alangari A 

PROVIDER: S-EPMC3582381 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature