title: Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency.
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-α 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-α 2b therapy. Immunological studies revealed decreased circulating plasmacytoid dendritic cells (pDCs) and profound deficiency of IFN-α production by his peripheral blood mononuclear cells in response to treatment with CpG oligonucleotides. These findings indicate that underlying pDC deficiency and impaired IFN-α production may predispose to chronic viral infections in DOCK8 deficiency. IFN-α 2b therapy maybe useful in controlling recalcitrant viral infections in these patients.
authors.affiliation: Immunology and Allergy, Pediatric Department, King Abdulaziz Medical City-WR, Jeddah, Saudi Arabia.
authors.forename: Daifulah
authors.initials: D
authors.lastname: Al-Zahrani
authors.affiliation: Dermatology department, King Abdulaziz Medical City-WR, Jeddah, Saudi Arabia.
authors.forename: Ali
authors.initials: A
authors.lastname: Raddadi
authors.affiliation: Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, USA.
authors.forename: Michel
authors.initials: M
authors.lastname: Massaad
authors.affiliation: Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, USA.
authors.forename: Sevgi
authors.initials: S
authors.lastname: Keles
authors.affiliation: Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, USA.
authors.forename: Haifa H
authors.initials: HH
authors.lastname: Jabara
authors.affiliation: Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, USA.
authors.forename: Talal A
authors.initials: TA
authors.lastname: Chatila
authors.affiliation: Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, USA.
authors.forename: Raif
authors.initials: R
authors.lastname: Geha
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D020662:Guanine Nucleotide Exchange Factors / Q000172:deficiency*; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use; D016130:Immunophenotyping; D000077190:Interferon alpha-2; D016898:Interferon-alpha / Q000627:therapeutic use*; D007589:Job Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D007963:Leukocytes, Mononuclear / Q000276:immunology / Q000378:metabolism; D008297:Male; D009154:Mutation; D010375:Pedigree; D011994:Recombinant Proteins / Q000627:therapeutic use; D012867:Skin / Q000473:pathology; D014860:Warts / Q000188:drug therapy* / Q000209:etiology*
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors; D007155:Immunologic Factors; D000077190:Interferon alpha-2; D016898:Interferon-alpha; D011994:Recombinant Proteins
keywords: DOCK8 deficiency; Hyper -immunoglobulin E syndrome; Interferon–α 2b; Papilloma Virus; Warts
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