Recurrent eosinophilia with a novel homozygous ARPC1B mutation.
10.1007/s11684-024-1106-2
- Author:
Gamze SONMEZ
1
;
Baris ULUM
2
;
Ates Kutay TENEKECI
1
;
Canan CAKA
3
;
Ali ŞAHIN
4
;
Alp KAZANCIOĞLU
3
;
Begum OZBEK
2
;
İsmail YAZ
2
;
Saliha ESENBOĞA
3
;
Deniz ÇAĞDAŞ
5
Author Information
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. Department of Pediatric Immunology, Pediatric Basic Sciences, Institute of Child Health, Hacettepe University, Ankara, 06100, Turkey. deniz.ayvaz@hacettepe.edu.tr.
- Publication Type:Case Reports
- Keywords:
ARPC1B deficiency;
actin cytoskeleton defects;
cystic fibrosis;
hypereosinophilia;
primary immunodeficiency
- MeSH:
Humans;
Actin-Related Protein 2-3 Complex/genetics*;
Cystic Fibrosis Transmembrane Conductance Regulator/genetics*;
Eosinophilia/genetics*;
Homozygote;
Mutation;
Recurrence
- From:
Frontiers of Medicine
2025;19(1):174-180
- CountryChina
- Language:English
-
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.
