In a boy born of consanguineous parents, pulmonary infections, vasculitis-like episodes and generalized eczema were noted. The persistent leukocytosis and mild bleeding tendency was accompanied by an actin polymerization defect in his blood cells. Proteomics analysis revealed absence of the Arp2/3 complex component ARPC1B, caused by a homozygous indel mutation in the ARPC1B gene (c.491_495TCAAGdelCCTGCCCins). Arpc1b knock-out mice demonstrated clinical similarities with the patient. Together, these findings describe a novel combined immunodeficiency with recurrent infections, allergy and inflammation as the main clinical features of the ARPC1B gene defect.
|Journal||Journal of Allergy and Clinical Immunology|
|Early online date||10 Dec 2016|
|Publication status||E-pub ahead of print - 10 Dec 2016|