Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.

ABSTRACT:

Background

Identifying genetic mechanisms of inborn errors of immunity (IEI) is important for diagnosis and treatment of patients, yet most patients with suspected IEI have negative genetic testing. Genetic mosaicism is an emerging mechanism of IEI but is challenging to identify.

Objective

To use a discovery-based approach to identify mosaic variants in genes relevant to immune dysregulation in patient and healthy cohorts.

Methods

We developed custom panels for high-depth sequencing of genes known or hypothesized to cause dominant immune dysregulation. Samples from 452 patients with immune dysregulation (affected) and 154 currently healthy were sequenced using 71- or 101-gene targeted panels.

Results

We identified mosaic variants in 9.5% of undiagnosed patients

SUBMITTER: Schmitz EG 

PROVIDER: S-EPMC12916128 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature