STAT3 c.1915C > T variant-associated Hyper-IgE syndrome in a child: a case report.

ABSTRACT:

Background

Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency disorder characterized by severe eczema, recurrent skin and respiratory infections, and markedly elevated serum IgE levels. Early diagnosis and management are crucial for prognosis, but clinical misdiagnosis is common due to its rarity. We report a case of a 6-year-old girl with HIES, where a rarely reported STAT3 mutation was discovered through genetic testing, aiming to enhance disease awareness and diagnostic accuracy.

Methods

The patient underwent comprehensive history taking, physical examination, serum IgE measurement, and ancillary tests. Whole-exome sequencing via next-generation sequencing (NGS) was used to analyze the STAT3 gene, with mutation validation by Sanger sequencing. Novelty was assess

SUBMITTER: Dai Q 

PROVIDER: S-EPMC12741137 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature