Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

ABSTRACT:

Background

Recently, a growing number of novel genetic defects underlying primary immunodeficiencies (PIDs) have been identified, increasing the number of PID up to more than 250 well-defined forms. Next-generation sequencing (NGS) technologies and proper filtering strategies greatly contributed to this rapid evolution, providing the possibility to rapidly and simultaneously analyze large numbers of genes or the whole exome.

Objective

To evaluate the role of targeted NGS and whole exome sequencing (WES) in the diagnosis of a case series, characterized by complex or atypical clinical features suggesting a PID, difficult to diagnose using the current diagnostic procedures.

Methods

We retrospectively analyzed genetic variants identified through targeted NGS or WES in 45

SUBMITTER: Gallo V 

PROVIDER: S-EPMC5098274 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature