Associated Papers
Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency.
Dobrose MM et al.
Genes and Immunity, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
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
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Brigida I et al.
Blood, 2018
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