Whole-exome sequencing assists in the diagnosis of hyperimmunoglobulin E syndrome: Insights into dual genetic abnormalities
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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 STAT3 and DOC... ...
