title: Hyper-IgE syndrome update.
abstract: Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job's syndrome is a primary immunodeficiency with a wide array of clinical features caused by dominant negative mutations in STAT3. In recent years, not only the clinical phenotype of the disease has been expanded with recognition of features such as arterial aneurysms, but also our understanding of the pathogenesis of the disease has greatly improved.
authors.affiliation: Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, USA.
authors.forename: Kathryn J
authors.initials: KJ
authors.lastname: Sowerwine
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.forename: Alexandra F
authors.initials: AF
authors.lastname: Freeman
mesh_terms: D000783:Aneurysm / Q000235:genetics / Q000276:immunology; D000818:Animals; D006801:Humans; D007589:Job Syndrome / Q000235:genetics* / Q000276:immunology* / Q000473:pathology; D009154:Mutation / Q000276:immunology*; D050796:STAT3 Transcription Factor / Q000235:genetics* / Q000276:immunology*
chemical_list: D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human