title: Identification of a novel STAT3 mutation in a patient with hyper-IgE syndrome.
abstract: Here we describe a patient with hyper-IgE syndrome presenting with recurrent staphylococcal abscesses, pneumonia, and chronic mucocutaneous candidiasis, and report the identification of a novel STAT3 mutation at amino acid position 621, which has not previously been described. In addition, we review the immunological, infectious, and genetic features of hyper-IgE syndrome.
authors.affiliation: Department of Infectious Diseases, Aarhus University Hospital, Skejby, Aarhus, Denmark. trinmoge@rm.dk
authors.forename: Trine H
authors.initials: TH
authors.lastname: Mogensen
authors.forename: Marianne A
authors.initials: MA
authors.lastname: Jakobsen
authors.forename: Carsten S
authors.initials: CS
authors.lastname: Larsen
mesh_terms: D000038:Abscess / Q000235:genetics / Q000276:immunology; D002178:Candidiasis, Chronic Mucocutaneous / Q000235:genetics / Q000276:immunology; D005260:Female; D006801:Humans; D007589:Job Syndrome / Q000235:genetics* / Q000382:microbiology; D008875:Middle Aged; D009154:Mutation; D050796:STAT3 Transcription Factor / Q000235:genetics*; D013207:Staphylococcal Skin Infections / Q000235:genetics / Q000276:immunology
chemical_list: D050796:STAT3 Transcription Factor