Associated Papers
Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency.
Dobrose MM et al.
Genes and Immunity, 2025
Recurrent eosinophilia with a novel homozygous ARPC1B mutation.
Sonmez G et al.
Frontiers of Medicine, 2025
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.
Nunes-Santos CJ et al.
Nature Communications, 2023
37349293 (PubMed )
Supplement: 41467_2023_39272_MOESM1_ESM.pdf
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
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Brigida I et al.
Blood, 2018
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