Actin-related inborn error of immunity with thrombocytopenia:a meta-analysis
MA Shi-yun
AN Yun-fei
ZHAO Xiao-dong
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.
Keywords：actinthrombocytopeniainborn error of immunityWiskott-Aldrich syndromeWIP defectARPC1B defect
Publication Date：2025-07-06
Online Publishing Date：2025-09-04(First online date of this platform, not the publication date of the document)
Pages：7( 586-592 )