STAT3 c.1915C > T variant-associated Hyper-IgE syndrome in a child: a case report
The STAT3 c.1915C > T mutation is likely causative of HIES, expanding its genetic mutation spectrum. This case highlights the critical role of genetic testing in rare disease diagnosis and the importance of integrating acute treatment with long-term home care, providing insights for improved early detection and management of HIES.
Authors
- Rui Liang (ORCID: https://orcid.org/0000-0002-5095-9637)
- Qianqian Dai (ORCID: https://orcid.org/0000-0003-3826-395X)
- Yanan Wang (ORCID: https://orcid.org/0000-0001-7508-9669)
- Z Y Wang (ORCID: https://orcid.org/0009-0001-4646-0286)
Institutions
- Xinjiang Medical University (CN)
- First Affiliated Hospital of Xinjiang Medical University (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-12-12
- DOI
- https://doi.org/10.3389/fped.2025.1693297
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Xinjiang Medical University