中国实用儿科杂志

中国实用儿科杂志 ›› 2025, Vol. 40 ›› Issue (7): 586-592.DOI: 10.19538/j.ek2025070612

• 综述 • 上一篇    下一篇

伴血小板减少症的肌动蛋白相关免疫出生缺陷荟萃分析

  

  1. 重庆医科大学附属儿童医院风湿免疫科  国家儿童健康与疾病临床医学研究中心（重庆）  儿童发育疾病研究教育部重点实验室  儿童感染与免疫罕见病重庆市重点实验室，重庆  400014
  • 出版日期:2025-07-06 发布日期:2025-09-02
  • 通讯作者: 安云飞，电子信箱：anyf82@aliyun.com
  • 基金资助:
    国家自然科学基金（82070135）；“ 十四五”国家重点研发计划（2021YFC2700804）

Actin-related inborn error of immunity with thrombocytopenia：a meta-analysis

  1. Department of Rheumatology and Immunology，Children’s Hospital of Chongqing Medical University，National Clinical Research Center for Health and Disorder，Ministry of Education Key Laboratory of Child Development and Disorder，Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity，Chongqing  400014，China
  • Online:2025-07-06 Published:2025-09-02

摘要：

在真核细胞中，肌动蛋白聚合解聚过程受到多种肌动蛋白结合蛋白调控。其中，WASP 是肌动蛋白丝分支的成核促进因子之一，仅在造血系统中特异性表达。当细胞激活时，CDC42激活 WASP，进一步促进肌动蛋白单体聚合和肌动蛋白丝延伸。该过程中各肌动蛋白结合蛋白精准调控对细胞骨架的正常维持至关重要。WIP缺陷和 ARPC1B 缺陷是两种与肌动蛋白相关免疫出生缺陷，二者均有血小板减少等相似临床表现，临床与 WAS综合征鉴别困难，文章总结了3种临床相似疾病的致病机制、临床和免疫表型以及目前研究进展，为早期识别及处理提供参考。

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Abstract:

In eukaryotic cells，the actin polymerization and depolymerization process is regulated by several actin-binding proteins. Among them，WASP is one of the nucleation promoters of actin filament branching，which is specifically expressed only in the hematopoietic system. Upon cellular activation，CDC42 activates WASP，which further promotes actin monomer polymerization and actin filament extension. Precise regulation of the actin-binding proteins in this process is essential for the normal maintenance of the cytoskeleton. WIP defects and ARPC1B defects are two types of actin-related inborn error of immunity immune birth defects with similar clinical manifestations such as thrombocytopenia，which are difficult to differ clinically from WAS syndromes.In this article，we summarize the pathogenic mechanisms，clinical and immunophenotypes，and the current progress of the study of these three clinically similar diseases，providing reference for early recognition and management.

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