title: Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3.
abstract: We report a family with autosomal dominant chronic mucocutaneous candidiasis as well as recurrent viral infections that segregate with a novel signal transducer and activator of transcription 1 (STAT1) mutation. Prophylactic treatment with fluconazole and immunoglobulin replacement has been initiated, with good clinical response.
authors.affiliation: Division of Pediatric Allergy and Clinical Immunology, Department of Pediatrics, McGill University Health Center, Montreal, Quebec, Canada.
authors.forename: Maysoun
authors.initials: M
authors.lastname: Al Rushood
authors.forename: Christine
authors.initials: C
authors.lastname: McCusker
authors.forename: Bruce
authors.initials: B
authors.lastname: Mazer
authors.forename: Reza
authors.initials: R
authors.lastname: Alizadehfar
authors.forename: Bodo
authors.initials: B
authors.lastname: Grimbacher
authors.forename: Mark
authors.initials: M
authors.lastname: Depner
authors.forename: Moshe
authors.initials: M
authors.lastname: Ben-Shoshan
mesh_terms: D002178:Candidiasis, Chronic Mucocutaneous / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D050794:STAT1 Transcription Factor / Q000235:genetics*; D051196:Toll-Like Receptor 3
chemical_list: D050794:STAT1 Transcription Factor; D051196:Toll-Like Receptor 3