Screening for primary immunodeficiency diseases by next-generation sequencing in early life.

ABSTRACT:

Objective

We aimed to use next-generation sequencing (NGS) for the early diagnosis of primary immunodeficiency diseases (PIDs) and define its effects on medical management for an infant cohort in early life.

Methods

A single-centre study was conducted from November 2015 to April 2018. Infants less than 3 months old with infections or abnormal white blood cell counts were enrolled in the study. Gene variants were analysed by NGS, and once a mutation was found in a PID-associated gene, the immune functions associated with this mutation were detected. The diagnosis rate of PIDs in the cohort was the main outcome. The patients received corresponding management and follow-up treatments.

Results

Among 2392 patients who were genetically tested with NGS, 51 infants were diagn

SUBMITTER: Sun J 

PROVIDER: S-EPMC7231820 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature