高IgE综合征JAK-STAT信号通路遗传调控机制研究进展OA

Hyper-IgE syndrome(HIES)is a rare form of inborn errors of immunity(formerly called pri-mary immunodeficiency disorders),defined by substantially elevated serum IgE levels,recurrent infections,and multisystem involvement.The JAK-STAT signaling pathway,as a pivotal hub governing cellular signal transduction and gene expression,maintains a close association with the pathogenesis of HIES.Genetic muta-tions may interfere with this pathway either directly or indirectly,thereby inducing immune system dysfunction and impaired signal transduction,which ultimately result in a spectrum of clinical manifestations.This study seeks to clarify the regulatory mechanisms through which genetic mutations affect the JAK-STAT signaling path-way in Hyper-IgE syndrome and to lay a theoretical foundation for the development of targeted therapies for pa-tients with Hyper-IgE syndrome.