Hyper-IgE Syndrome: A Case Report with Insights from Bioinformatics Analysis of Key Pathways and Genes.

PURPOSE

This study reports on a patient with High IgE Syndrome(HIES), focusing on clinical manifestations and pathogenic mechanisms through bioinformatics to enhance understanding and treatment.

PATIENTS AND METHODS

The patient received appropriate interventions and was currently undergoing treatment with close monitoring. Additionally, bioinformatics analyses were conducted to investigate potential signaling pathways and key genes associated with HIES.

RESULTS

A 28-year-old woman presented with a 6-month history of cough, worsening dyspnea, and eczema was diagnosed with HIES after elevated immunoglobulin levels and a STAT3 mutation. Initially, she declined immunoglobulin therapy, but showed improvement with sulfamethoxazole-trimethoprim and subsequently required intravenous immunoglobulin therapy for ongoing management. KEGG pathway analysis revealed that these genes were primarily associated with infection-related signaling pathways, consistent with the susceptibility to infections observed in HIES patients. Protein-protein interaction (PPI) network analysis highlighted the importance of key genes such as IL6, CDH2, and CLDN1.

CONCLUSION

Increased HIES awareness among healthcare providers is crucial for patients with recurrent infections, requiring a multidisciplinary approach. Our study identified IL6, CDH2, and CLDN1 as key factors in HIES progression, suggesting naive B cells and dormant mast cells may be involved.