title: Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding.
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, Katholieke Universiteit Leuven, Leuven, Belgium.
authors.forename: Glynis
authors.initials: G
authors.lastname: Frans
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, Katholieke Universiteit Leuven, Leuven, Belgium.
authors.forename: Leen
authors.initials: L
authors.lastname: Moens
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, Katholieke Universiteit Leuven, Leuven, Belgium; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Heidi
authors.initials: H
authors.lastname: Schaballie
authors.affiliation: Laboratory Genetics of Autoimmunity, Vlaams Instituut Biotechnologie, Leuven, Belgium; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Lien
authors.initials: L
authors.lastname: Van Eyck
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, Katholieke Universiteit Leuven, Leuven, Belgium.
authors.forename: Heleen
authors.initials: H
authors.lastname: Borgers
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, Katholieke Universiteit Leuven, Leuven, Belgium.
authors.forename: Margareta
authors.initials: M
authors.lastname: Wuyts
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, Katholieke Universiteit Leuven, Leuven, Belgium.
authors.forename: Doreen
authors.initials: D
authors.lastname: Dillaerts
authors.affiliation: Department of Microbiology and Immunology, Laboratory for Clinical Bacteriology and Mycology, Katholieke Universiteit Leuven, Leuven, Belgium.
authors.forename: Edith
authors.initials: E
authors.lastname: Vermeulen
authors.affiliation: Laboratory Genetics of Autoimmunity, Vlaams Instituut Biotechnologie, Leuven, Belgium.
authors.forename: James
authors.initials: J
authors.lastname: Dooley
authors.affiliation: Centre for Chronic Immunodeficiency, University Hospital Freiburg, Freiburg, Germany.
authors.forename: Bodo
authors.initials: B
authors.lastname: Grimbacher
authors.affiliation: Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University and Pediatric Immunology Service, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom.
authors.forename: Andrew
authors.initials: A
authors.lastname: Cant
authors.affiliation: Department of Conservative Dentistry, School for Dentistry, Katholieke Universiteit Leuven, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Dominique
authors.initials: D
authors.lastname: Declerck
authors.affiliation: Department of Conservative Dentistry, School for Dentistry, Katholieke Universiteit Leuven, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Marleen
authors.initials: M
authors.lastname: Peumans
authors.affiliation: Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Marleen
authors.initials: M
authors.lastname: Renard
authors.affiliation: Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Kris
authors.initials: K
authors.lastname: De Boeck
authors.affiliation: Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Ilse
authors.initials: I
authors.lastname: Hoffman
authors.affiliation: Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Inge
authors.initials: I
authors.lastname: François
authors.affiliation: Laboratory Genetics of Autoimmunity, Vlaams Instituut Biotechnologie, Leuven, Belgium.
authors.forename: Adrian
authors.initials: A
authors.lastname: Liston
authors.affiliation: Department of Cellular and Molecular Medicine, Laboratory of Molecular Endocrinology, Katholieke Universiteit Leuven, Leuven, Belgium.
authors.forename: Frank
authors.initials: F
authors.lastname: Claessens
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, Katholieke Universiteit Leuven, Leuven, Belgium.
authors.forename: Xavier
authors.initials: X
authors.lastname: Bossuyt
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, Katholieke Universiteit Leuven, Leuven, Belgium; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium. Electronic address: Isabelle.Meyts@uzleuven.be.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Meyts
mesh_terms: D000293:Adolescent; D002178:Candidiasis, Chronic Mucocutaneous / Q000235:genetics* / Q000473:pathology; D003743:Dental Enamel / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009154:Mutation; D050794:STAT1 Transcription Factor / Q000235:genetics*; D014071:Tooth Abnormalities / Q000235:genetics* / Q000473:pathology
chemical_list: D050794:STAT1 Transcription Factor; C494079:STAT1 protein, human