Connecting the Diagnostic Dots in HIES
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By
February 12, 2026
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3 min
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1
18-year-old girl diagnosed with hyperimmunoglobulin E syndrome.
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2
Initial presentation was retroperitoneal abscess with MSSA.
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3
Severe eczema and recurrent infections since infancy.
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4
Elevated IgE levels (>20,150 U/mL) observed.
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5
Genetic testing confirmed STAT3 variant.
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6
Emphasizes diagnostic challenges with rare immunodeficiencies.
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7
Possible cumulative complications include lung cysts and infections.
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8
Importance of suspecting HIES in recurrent infection cases.
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An 18-year-old girl diagnosed with autosomal-dominant hyperimmunoglobulin E syndrome after presenting with a retroperitoneal abscess highlights the challenges in diagnosing this rare immunodeficiency. Despite her history of severe eczema, recurrent skin infections, and other clinical features since infancy, it took a significant complication for genetic testing to confirm her condition. This case emphasizes that HIES should be considered in patients with recurrent staphylococcal infections, elevated IgE levels, and related symptoms, even into adulthood.
-
1
18-year-old girl diagnosed with hyperimmunoglobulin E syndrome.
-
2
Initial presentation was retroperitoneal abscess with MSSA.
-
3
Severe eczema and recurrent infections since infancy.
-
4
Elevated IgE levels (>20,150 U/mL) observed.
-
5
Genetic testing confirmed STAT3 variant.
-
6
Emphasizes diagnostic challenges with rare immunodeficiencies.
-
7
Possible cumulative complications include lung cysts and infections.
-
8
Importance of suspecting HIES in recurrent infection cases.
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