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AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity
Authors:Leen Moens  Heidi Schaballie  Barbara Bosch  Arnout Voet  Xavier Bossuyt  Jean-Laurent Casanova  Stuart G. Tangye  Isabelle Meyts
Affiliation:1.Laboratory Medicine, Experimental Laboratory Immunology, Department of Laboratory Medicine,University Hospitals Leuven and KU Leuven,Leuven,Belgium;2.Department of Immunology and Microbiology, Childhood Immunology,University Hospitals Leuven and KU Leuven,Leuven,Belgium;3.Department of Pediatrics,University Hospitals Leuven,Leuven,Belgium;4.St. Giles Laboratory of Infectious Diseases, Rockefeller Branch,The Rockefeller University,New York,USA;5.Department of Biochemistry, Laboratory of Biomolecular Modelling and Design,KU Leuven,Leuven,Belgium;6.The Howard Hughes Medical Institute,New York,USA;7.The Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children,Paris,France;8.The Imagine Institute,Paris Descartes University,Paris,France;9.The Pediatric Hematology and Immunology Unit, Assistance Publique-H?pitaux de Paris,Necker Hospital for Sick Children,Paris,France;10.Paris Descartes University, Imagine Institute,Paris,France;11.Immunology Division,Garvan Institute of Medical Research,Darlinghurst,Australia;12.St Vincent’s Clinical School,University of NSW Australia,Darlinghurst,Australia
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