Recurrent eosinophilia with a novel homozygous ARPC1B mutation

Abstract

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.

Keywords

actin cytoskeleton defects / ARPC1B deficiency / hypereosinophilia / primary immunodeficiency / cystic fibrosis

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Compliance with ethics guidelines

Conflicts of interest Gamze Sonmez, Baris Ulum, Ates Kutay Tenekeci, Canan Caka, Ali Şahin, Alp Kazancıoğlu, Begum Ozbek, İsmail Yaz, Saliha Esenboğa, and Deniz Çağdaş declare no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Informed consent was obtained from the family for publication of this report. Other ethical board approval is not applicable in this case report.

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