中华临床免疫和变态反应杂志2026，Vol.20Issue(2)：115-121,7.DOI:10.3969/j.issn.1673-8705.2026.02.006
高IgE综合征JAK-STAT信号通路遗传调控机制研究进展
Advances in genetic regulatory mechanisms of JAK-STAT signaling pathway in Hyper-IgE syndrome
摘要
Abstract
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.关键词
高IgE综合征/JAK-STAT信号通路/遗传调控机制/基因突变Key words
Hyper-IgE syndrome/JAK-STAT signaling pathway/Genetic regulatory mechanisms/Gene mutations引用本文复制引用
李梦娇,王倩,张晓语,肖福煬,梁俊琴..高IgE综合征JAK-STAT信号通路遗传调控机制研究进展[J].中华临床免疫和变态反应杂志,2026,20(2):115-121,7.基金项目
新疆维吾尔自治区"天山英才"青年科技拔尖人才专项(2022TSYCCX0109) （2022TSYCCX0109）
新疆维吾尔自治区自然科学基金-杰出青年科学基金(2022D01E81) （2022D01E81）
新疆第二医学院科研项目(自然科学,ZR202557) Tianshan Talent Fund Project of Xinjiang Uygur Autonomous Region-Youth Science and Technology Talents(2022TSYCCX0109) （自然科学,ZR202557）
Natural Science Foundation of Xinjiang Uygur Autonomous Region-Distinguished Young Scholars(2022D01E81) （2022D01E81）
Scientific research project of Xinjiang Second Medical College(Natural Science,ZR202557) （Natural Science,ZR202557）
