title: Hyperimmunoglobulin E syndrome with a novel STAT3 mutation.
abstract: A 35-year-old man with severe eczematous dermatitis and recurrent staphylococcal skin infections, some of which required hospitalization, is presented. Other medical concerns include recurrent oral staphylococcal infections, otitis media, ocular herpes simplex virus keratitis, asthma, steroid-induced gastritis, steroid-induced cataracts, recurrent upper respiratory infections, and acute pharyngitis. Past medical history includes retained dentition of six primary teeth, two episodes of childhood pneumonia that required hospitalization, and three wrist and ankle fractures. Laboratory data showed an eosinophil count of 2,400 cells/ml; the highest IgE level was 17,028 IU/mL. Considering the clinical and laboratory findings, the diagnosis of hyperimmunoglobulin E syndrome was made. DNA sequencing showed a novel signal transducer and activator of transcription 3 (STAT3) gene mutation within intron 12, specifically adenine to cytosine, two base pairs upstream of exon 13.
authors.affiliation: Department of Dermatology, New York University, USA.
authors.forename: Robert
authors.initials: R
authors.lastname: Anolik
authors.forename: Sarina
authors.initials: S
authors.lastname: Elmariah
authors.forename: Stephanie
authors.initials: S
authors.lastname: Lehrhoff
authors.forename: Henry J
authors.initials: HJ
authors.lastname: Votava
authors.forename: Frank T
authors.initials: FT
authors.lastname: Martiniuk
authors.forename: William
authors.initials: W
authors.lastname: Levis
mesh_terms: D000328:Adult; D006801:Humans; D007589:Job Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D050796:STAT3 Transcription Factor / Q000235:genetics*
chemical_list: D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human