title: [STAT3 mutation in a child with hyper-IgE syndrome and incomplete clinical features].
abstract: We described mutation of STAT3 gene, typical for autosomal dominant hiperimmunoglobulin E syndrome (HIES), in a child with recurrent skin abscesses and respiratory tract infections without skeletal and connective tissue anomalies.
authors.forename: Anna
authors.initials: A
authors.lastname: Szaflarska
authors.forename: Magdalena
authors.initials: M
authors.lastname: Rutkowska-Zapała
authors.forename: Anna
authors.initials: A
authors.lastname: Pituch-Noworolska
authors.forename: Maciej
authors.initials: M
authors.lastname: Siedlar
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D007589:Job Syndrome / Q000235:genetics*; D009154:Mutation; D050796:STAT3 Transcription Factor / Q000235:genetics* / Q000276:immunology
chemical_list: D050796:STAT3 Transcription Factor