STAT3基因突变相关免疫性疾病的研究进展
Research progress of STAT3 gene mutation-related immune diseases
郭纯钰 1应培挺 1郭莉1
作者信息
- 1. 浙江大学医学院附属儿童医院/国家儿童健康与疾病临床医学研究中心风湿免疫过敏科,浙江杭州 310052
- 折叠
摘要
信号转导和转录激活因子3(STAT3)基因突变可分为功能缺失性(LOF)突变和功能获得性(GOF)突变.STAT3LOF突变引发常染色体显性遗传高IgE综合征(AD-HIES),表现为反复皮肤和肺部感染、顽固性湿疹样皮炎、特殊面容、乳牙脱落延迟及身材矮小等,伴有血清IgE水平及外周血嗜酸性粒细胞增高.STAT3 GOF生殖系突变以早发性免疫失调性疾病为特征,包括自身免疫性血细胞减少、肠炎、间质性肺炎、内分泌疾病等.AD-HIES治疗策略推荐使用抗生素及预防并发症.STAT3GOF突变疾病建议采用靶向生物制剂治疗.
Abstract
Signal transducer and activator of transcription 3(STAT3)mutations can be classified into loss-of-function(LOF)mutation and gain-of-function(GOF)mutation.STAT3 LOF mutation causes autosomal-dominant hyper-IgE syndrome(AD-HIES),which is characterized by repeated skin and lung infections,intractable eczematoid dermatitis,characteristic facial features,delayed primary teeth shedding,short stature,and accompanied by increased serum IgE level and peripheral eosinophilia.Patients with germline STAT3 GOF mutations are characterized by early-onset immune dysregulation syndrome including autoimmune hemocytopenia,enteritis,interstitial pneumonitis,and endocrine diseases.The use of antibiotics and prevention of complications are recommended for treatment of AD-HIES while targeted biologics for treatment of STAT3 GOF mutation.
关键词
STAT3转录因子/高IgE综合征/免疫系统疾病Key words
STAT3 transcription factor/hyper-IgE syndrome/immune system diseases引用本文复制引用
基金项目
浙江省自然科学基金(LHDMY23H100005)
浙江省医药卫生科技计划项目(2022498030)
出版年
2024
NETL
NSTL
万方数据