An 18-year-old patient was diagnosed with autosomal-dominant hyperimmunoglobulin E syndrome after presenting with a retroperitoneal abscess.
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The patient's clinical history included severe eczema, recurrent skin abscesses, and multiple fractures, raising suspicion for hyperimmunoglobulin E syndrome.
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Genetic testing confirmed a heterozygous STAT3 variant, supporting the diagnosis of hyperimmunoglobulin E syndrome.
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HIES can present with unusual deep-seated infections like retroperitoneal abscesses, complicating timely diagnosis.
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Pediatricians should consider HIES in patients with recurrent infections, eczema, and elevated immunoglobulin E levels, even in adolescence.
