Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

ABSTRACT:

Background

Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test.

Methods

In May 2013, we implemented exome sequencing in routine diagnostics for patients suffering from PIDs. This study reports the clinical utility and diagnostic yield for a heterogeneous group of 254 consecutively referred PID patients from 249 families. For the majority of patients, the clinical diagnosis was based on clinical criteria including rare and/or unusual severe bacterial, viral, or fungal infections, sometimes accompanied by autoimmune manifestations. Functional immune defects were interpreted in the context of

SUBMITTER: Arts P 

PROVIDER: S-EPMC6572765 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature