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STAT3 c.1915C > T variant-associated Hyper-IgE syndrome in a child: a case report
Qianqian Dai1, Yanan Wang1, Zhiyuan Wang1
1Department of Pediatrics, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China.
Frontiers in Pediatrics
|December 29, 2025
Summary
A rare STAT3 mutation caused Hyper-IgE syndrome (HIES) in a child with eczema and infections. Genetic testing confirmed the diagnosis, improving early detection and management strategies for this primary immunodeficiency.
Area of Science:
- Immunology
- Genetics
- Rare Diseases
Background:
- Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency.
- Characterized by eczema, recurrent infections, and high IgE levels.
- Early diagnosis is challenging due to rarity and varied presentation.
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