Recurrent eosinophilia with a novel homozygous ARPC1B mutation  

作　　者：Gamze Sonmez Baris Ulum Ates Kutay Tenekeci Canan Caka AliŞahin Alp Kazancıoğlu Begum Ozbek İsmail Yaz Saliha Esenboğa DenizÇağdaş 

机构地区：[1]Faculty of Medicine,Hacettepe University,Ankara,06100,Turkey [2]Department of Pediatric Immunology,Pediatric Basic Sciences,Institute of Child Health,Hacettepe University,Ankara,06100,Turkey [3]Division of Pediatric Immunology,Department of Pediatrics,Hacettepe University Faculty of Medicine,Ankara,06100,Turkey [4]School of Medicine,Selcuk University,Konya,42250,Turkey [5]Ihsan Dogramaci Childrens Hospital,Hacettepe University Faculty of Medicine,Ankara,06100,Turkey

出　　处：《Frontiers of Medicine》2025年第1期174-180,共7页医学前沿(英文版)

摘　　要：Cytoskeletal network dysregulation is a pivotal determinant in various immunodeficiencies and autoinflammatory conditions. This report reviews the significance of actin remodeling in disease pathogenesis, focusing on the Arp2/3 complex and its regulatory subunit actin related protein 2/3 complex subunit 1B (ARPC1B). A spectrum of cellular dysfunctions associated with ARPC1B deficiency, impacting diverse immune cell types, is elucidated. The study presents a patient featuring recurrent and persistent eosinophilia attributed to homozygous ARPC1B mutation alongside concomitant compound heterozygous cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. We used ARPC1B antibody to stain the patient’s peripheral blood lymphocytes and those of the control. The defect in the ARPC1B gene in the present patient caused absent/low expression by immunofluorescence microscopy. The intricate interplay between cytoskeletal defects and immunological manifestations underscores the complexity of disease phenotypes, warranting further exploration for targeted therapeutic strategies.

关 键 词：actin cytoskeleton defects ARPC1B deficiency HYPEREOSINOPHILIA primary immunodeficiency cystic fibrosis 

分 类 号：R73[医药卫生—肿瘤]