Sonmez Gamze, Ulum Baris, Tenekeci Ates Kutay, Caka Canan, Şahin Ali, Kazancıoğlu Alp, Ozbek Begum, Yaz İsmail, Esenboğa Saliha, Çağdaş Deniz
Faculty of Medicine, Hacettepe University, Ankara, 06100, Turkey.
Department of Pediatric Immunology, Pediatric Basic Sciences, Institute of Child Health, Hacettepe University, Ankara, 06100, Turkey.
Front Med. 2025 Feb;19(1):174-180. doi: 10.1007/s11684-024-1106-2. Epub 2024 Nov 29.
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.
细胞骨架网络失调是各种免疫缺陷和自身炎症性疾病的关键决定因素。本报告综述了肌动蛋白重塑在疾病发病机制中的重要性，重点关注Arp2/3复合物及其调节亚基肌动蛋白相关蛋白2/3复合物亚基1B（ARPC1B）。阐明了一系列与ARPC1B缺乏相关的细胞功能障碍，这些功能障碍影响多种免疫细胞类型。该研究报告了一名患者，其因纯合子ARPC1B突变以及同时存在的复合杂合子囊性纤维化跨膜传导调节因子（CFTR）基因突变而出现反复持续性嗜酸性粒细胞增多。我们使用ARPC1B抗体对患者和对照者的外周血淋巴细胞进行染色。通过免疫荧光显微镜观察，本患者ARPC1B基因缺陷导致表达缺失/降低。细胞骨架缺陷与免疫表现之间复杂的相互作用突出了疾病表型的复杂性，有必要进一步探索针对性的治疗策略。
