A newly identified pathology of episodic angioedema with hypereosinophilia (Gleich syndrome) revealed by nultiomics analysis.

ABSTRACT:

Background

Episodic angioedema with eosinophilia (Gleich syndrome) is a rare disease marked by periodic angioedema, fever, and severe eosinophilia, with limited understanding of its pathogenesis.

Objective

We sought to identify pathogenic factors contributing to severe Gleich syndrome through a comprehensive multiomics approach, using whole-genome sequencing (WGS) and RNA sequencing (RNA-seq).

Methods

A multiomics analysis was conducted on a 16- to 20-year-old female patient with severe Gleich syndrome, presenting with periodic high fever, extensive urticaria/eczema, and marked eosinophilia. The analysis included WGS and RNA-seq of blood samples.

Results

WGS revealed high-impact pathogenic mutations that have the potential to significantly alter gene function i

SUBMITTER: Koreeda T 

PROVIDER: S-EPMC12013126 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature