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 assessed against the Genome Aggregation Database (gnomAD). Management included anti-infective therapy, skin care, nutritional support, and a long-term home care plan.
Results: The child presented with a 5-year history of eczema and skin pustules, growth delay, and malnutrition, along with significantly elevated serum IgE. Genetic testing revealed a heterozygous c.1915C > T missense mutation in STAT3, which was unreported in gnomAD and consistent with HIES pathogenicity based on literature. Supportive care, including anti-infectives and skin management, led to substantial improvement, and long-term home care was implemented post-discharge.
Conclusion: The STAT3 c.1915C > T mutation is likely causative of HIES,…
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Artificial Intelligence in Medicine: Cross-Sectional Study Among Medical Students on Application, Education, and Ethical Aspects
- Information quality of videos related to esophageal cancer on tiktok, kwai, and bilibili: a cross-sectional study
- The quality and reliability of short videos about hypertension on TikTok: a cross-sectional study
- Quality and reliability evaluation of pancreatic cancer-related video content on social short video platforms: a cross-sectional study
- Quality and reliability of pediatric pneumonia related short videos on mainstream platforms: cross-sectional study
- Association between metabolic score for insulin resistance (METS-IR) and hypertension: a cross-sectional study based on NHANES 2007–2018
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.