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

Hyperimmunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disorder characterized by recurrent infections, severe eczema, and elevated serum immunoglobulin E (IgE) levels. Genetic testing traditionally focuses on known genes such as and , responsible for the majority of autosomal-dominant (AD-HIES) and autosomal-recessive (AR-HIES) cases, respectively. However, a significant subset of patients with HIES-like symptoms remain genetically unexplained.