BRIGIDA , Immacolata

ARPC1B is a key factor for the assembly and maintenance of the ARP2/3 complex that is involved in actin branching from an existing filament. Germline bi-allelic mutations in ARPC1B have been recently described in six patients with clinical features of combined immunodeficiency, whose neutrophils and platelets but not T lymphocytes were studied....

Recently, a novel syndrome of combined immunodeficiency, allergy, and "auto"inflammation caused by mutations in the ARPC1B gene has been reported. Analysis of patient-derived hematopoietic cells has shown a defect in actin polymerization, which resulted in a wide range of clinical manifestations and immunologic-hematologic features. We report...