Whole-exome sequencing assists in the diagnosis of hyperimmunoglobulin E syndrome: Insights into dual genetic abnormalities

• DOI: 10.1016/j.heliyon.2025.e42408
• Publication Date: 2025-02-04T16:35:58Z
• Authors: Si-yuan Li; Wei Cao; Ying Ge; Wei Lvy; Ya-ping Liu; Ling Qin
• Keywords: Genetic diagnosis; Exome

Hyperimmunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disorder characterized by recurrent infections, severe eczema, and elevated serum immunoglobulin (IgE) levels. Genetic testing traditionally focuses on known genes such as STAT3 DOCK8, responsible for the majority of autosomal-dominant (AD-HIES) autosomal-recessive (AR-HIES) cases, respectively. However, significant subset patients with HIES-like symptoms remain genetically unexplained. Whole-exome sequencing (WES) has emerged transformative diagnostic tool, enabling identification both novel incidental genetic mutations. This report highlights role WES in diagnosis AD-HIES, showcasing its utility detecting mutation while revealing concurrent BRCA2 pathogenic variant. While confirmed finding underscores importance counseling long-term surveillance.