Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

ABSTRACT:

Background

Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions.

Objective

We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.

Methods

Patients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially f

SUBMITTER: Stray-Pedersen A 

PROVIDER: S-EPMC5222743 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature