Associated Papers
Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency.
Dobrose MM et al.
Genes and Immunity, 2025
The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency - a Comparative Analysis.
Bhattarai D et al.
Clinical Reviews in Allergy & Immunology, 2025
Recurrent eosinophilia with a novel homozygous ARPC1B mutation.
Sonmez G et al.
Frontiers of Medicine, 2025
Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.
Vásquez-Echeverri E et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2023
Wiskott Aldrich syndrome protein regulates non-selective autophagy and mitochondrial homeostasis in human myeloid cells.
Rivers E et al.
Elife, 2020
33135633 (PubMed )
Supplement: elife-55547-fig1-data1.docx
Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in ARPC1B From Asymptomatic Carriers and Normal Controls.
Kopitar AN et al.
Frontiers in Immunology, 2019
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