An immunodeficiency tale: same mutation, different phenotype

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Actin-related protein 2/3 complex subunit 1B (ARPC1B) deficiency is an autosomal-recessive inborn error of immunity resulting in impaired actin cytoskeletal function. This condition presents with similar features to Wiskott-Aldrich Syndrome, including leukocytoclastic vasculitis, thrombocytopenia, eczema and colitis. An absence of ARPC1B protein leads to impaired actin filament formation, which is critical for leukocyte activity in mediating cytoskeletal processes, including migration, adhesion, endocytosis, and phagocytosis.