Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

ABSTRACT:

Background

Inborn errors of immunity (IEI) are a group of heterogeneous disorders with geographic and ethnic diversities. Although IEI are common in Egypt, genetic diagnosis is limited due to financial restrictions. This study aims to characterize the genetic spectrum of IEI patients in Egypt and highlights the adaptation of the molecular diagnostic methods to a resource-limited setting.

Methods

Genetic material from 504 patients was studied, and proper diagnosis was achieved in 282 patients from 246 families. Mutational analysis was done by Sanger sequencing, next-generation sequencing (NGS) targeting customized genes panels, and whole-exome sequencing (WES) according to the patients' phenotypes and availability of genetic testing.

Results

A total of 194 variants inv

SUBMITTER: El Hawary RE 

PROVIDER: S-EPMC9402523 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature