Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency

Taco W Kuijpers, Anton Tool, Ivo van der Bijl, M de Boer, Michel van Houdt, Iris de Cuyper, Dirk Roos, Floris P J van Alphen, Karin van Leeuwen, Emma L Cambridge, Mark Arends, Gordon Dougan, Simon Clare, Ramiro Ramirez-Solis, Steven T Pals, David J Adams, Alexander B Meijer, Timo K van den Berg

Research output: Contribution to journalArticlepeer-review

Abstract

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.
Original languageEnglish
JournalJournal of Allergy and Clinical Immunology
Early online date10 Dec 2016
DOIs
Publication statusE-pub ahead of print - 10 Dec 2016

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