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

Abstract

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.