Abstract
The autosomal recessive form of the Hyper IgE syndrome (AR-HIES) with dedicator of cytokinesis 8 (DOCK8) deficiency is associated with difficult to treat persistent viral skin infections, including papilloma virus infection. Type I interferons play an important role in the defense against viruses. We examined the effect of therapy with IFN-alpha 2b in an 11-year old boy with DOCK8 deficiency due to a homozygous splice donor site mutation in DOCK8 intron 40. His unremitting warts showed dramatic response to IFN-alpha 2b therapy. Immunological studies revealed decreased circulating plasnnacytoid dendritic cells (pDCs) and profound deficiency of IFN-alpha production by his peripheral blood mononuclear cells in response to treatment with CpG oligonucleotides. These findings indicate that underlying pDC deficiency and impaired IFN-alpha production may predispose to chronic viral infections in DOCK8 deficiency. IFN-alpha 2b therapy maybe useful in controlling recalcitrant viral infections in these patients. (C) 2014 Elsevier Inc. All rights reserved.