title: An update on the hyper-IgE syndromes.
abstract: The hyper-IgE syndromes (HIES; originally named Job's syndrome) are a collection of primary immunodeficiency syndromes resulting in elevated serum IgE levels and typified by recurrent staphylococcal skin abscesses, eczema and pulmonary infections. The disorder has autosomal dominant and recessive forms. Autosomal dominant HIES has been shown to be mainly due to STAT3 mutations and additionally results in connective tissue, skeletal, vascular and dental abnormalities. Autosomal recessive HIES has been shown to be mainly due to mutations in DOCK8; these patients are more prone to viral skin infections instead. This review article discusses the common clinical features of the syndrome, the genetic mutations responsible and the pathogenesis of the disease, as well as treatments currently used.
authors.forename: Patrick F K
authors.initials: PF
authors.lastname: Yong
authors.forename: Alexandra F
authors.initials: AF
authors.lastname: Freeman
authors.forename: Karin R
authors.initials: KR
authors.lastname: Engelhardt
authors.forename: Steven
authors.initials: S
authors.lastname: Holland
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Puck
authors.forename: Bodo
authors.initials: B
authors.lastname: Grimbacher
mesh_terms: D005799:Genes, Dominant / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006801:Humans; D007589:Job Syndrome / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D009154:Mutation; D050796:STAT3 Transcription Factor / Q000235:genetics
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors; D050796:STAT3 Transcription Factor