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

Juan Li,1,* Wei-Hua Han,2,* Meng-Yu Zhang,3,* Jia-Qi Fan,4 Guo-Dong Li,5 Jun-Yi Li,6 Xiao Chen5 1Department of Comprehensive Ward, The Affiliated Taian City Central Hospital of Qingdao University, Tai’an, People’s Republic of China; 2Department of Intensive Care Unit,The Affiliated Taian City Central Hospital of Qingdao University, Tai’an, People’s Republic of China; 3Department of Pulmonary and Critical Care Medicine, Qilu Hospital of Shandong University, Jinan, People’s Republic of China; 4Jining Medical University, Jining, People’s Republic of China; 5Department of Pulmonary and Critical Care Medicine, The Affiliated Taian City Central Hospital of Qingdao University, Tai’an, People’s Republic of China; 6The Second Clinical Medical College of Nanchang University, Nanchang, People’s Republic of China*These authors contributed equally to this workCorrespondence: Xiao Chen, Department of Pulmonary and Critical Care Medicine, The Affiliated Taian City Central Hospital of Qingdao University, Longtan Road 29#, Tai’an, 271000, People’s Republic of China, Tel +86 538 629 3217, Fax +86 538 629 3126, Email [email protected]: 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.Keywords: HIES, infection, IL6, CDH2, CLDN1, STAT3 mutation