title: AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity.
authors.affiliation: Laboratory Medicine, Experimental Laboratory Immunology, Department of Laboratory Medicine, University Hospitals Leuven and KU Leuven, Leuven, Belgium.
authors.forename: Leen
authors.initials: L
authors.lastname: Moens
authors.affiliation: Department of Immunology and Microbiology, Childhood Immunology, University Hospitals Leuven and KU Leuven, Leuven, Belgium.|Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Heidi
authors.initials: H
authors.lastname: Schaballie
authors.affiliation: Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.|St. Giles Laboratory of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
authors.forename: Barbara
authors.initials: B
authors.lastname: Bosch
authors.affiliation: Department of Biochemistry, Laboratory of Biomolecular Modelling and Design, KU Leuven, Leuven, Belgium.
authors.forename: Arnout
authors.initials: A
authors.lastname: Voet
authors.affiliation: Laboratory Medicine, Experimental Laboratory Immunology, Department of Laboratory Medicine, University Hospitals Leuven and KU Leuven, Leuven, Belgium.
authors.forename: Xavier
authors.initials: X
authors.lastname: Bossuyt
authors.affiliation: St. Giles Laboratory of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.|The Howard Hughes Medical Institute, New York, NY, USA.|The Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.|The Imagine Institute, Paris Descartes University, Paris, France.|The Pediatric Hematology and Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.affiliation: St. Giles Laboratory of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.|The Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.|Paris Descartes University, Imagine Institute, Paris, France.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Boisson-Dupuis
authors.affiliation: Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.|St Vincent's Clinical School, University of NSW Australia, Darlinghurst, Australia.
authors.forename: Stuart G
authors.initials: SG
authors.lastname: Tangye
authors.affiliation: Department of Immunology and Microbiology, Childhood Immunology, University Hospitals Leuven and KU Leuven, Leuven, Belgium. Isabelle.Meyts@uzleuven.be.|Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium. Isabelle.Meyts@uzleuven.be.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Meyts
mesh_terms: D002648:Child; D025063:Chromosome Disorders; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D005799:Genes, Dominant; D006801:Humans; D007073:Immunoglobulin E / Q000096:biosynthesis* / Q000097:blood; D018655:Lymphocyte Count; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000175:diagnosis* / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*; D057089:Pathology, Molecular; D016692:Receptors, Antigen, T-Cell, gamma-delta / Q000378:metabolism; D050796:STAT3 Transcription Factor / Q000235:genetics*; D013601:T-Lymphocytes / Q000473:pathology*
chemical_list: D016692:Receptors, Antigen, T-Cell, gamma-delta; D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human; D007073:Immunoglobulin E
keywords: Autosomal dominant hyper-IgE syndrome; STAT3; autism; unconventional T cells