Objective:

To illustrate the diagnostic challenges and clinical features of autosomal-dominant hyperimmunoglobulin E syndrome (HIES) through a case report.

Approach:

Key Findings:

• The patient had a history of severe eczema, recurrent skin abscesses, otitis media, and skeletal abnormalities.
• Laboratory tests showed extremely elevated serum immunoglobulin E levels and a confirmed heterozygous STAT3 variant.
• The retroperitoneal abscess is an uncommon presentation of HIES, typically associated with skin and lung infections.

Interpretation:

The case highlights the importance of recognizing HIES in patients with recurrent infections and atopic features, even when presentations are atypical.

Limitations:

• The diagnosis was delayed due to limited access to genetic testing.
• Inflammatory markers may not accurately reflect the presence of infections in HIES patients.

Conclusion:

Pediatric clinicians should consider HIES in differential diagnoses for patients with recurrent staphylococcal infections and associated clinical features, regardless of age.

Sources:

• Clinical Case Reports
Source

Based on findings from:

Connecting the Diagnostic Dots in HIES

mdspire news news staff. MDSpire News, 2026.

https://news.mdspire.com/pediatrics/articles/connecting-the-diagnostic-dots-in-hies/

Attribution Notice

This content is an AI-generated, fully rewritten summary based on a published scholarly article. It does not reproduce the original text and is not a substitute for the original publication. Readers are encouraged to consult the source for full context, data, and methodology.