M
Mélanie Bué
Publications - 1
Citations - 699
Mélanie Bué is an academic researcher. The author has contributed to research in topics: Germline mutation & Dominance (genetics). The author has an hindex of 1, co-authored 1 publications receiving 626 citations.
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Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
Luyan Liu,Satoshi Okada,Xiao-Fei Kong,Alexandra Y. Kreins,Sophie Cypowyj,Avinash Abhyankar,Julie Toubiana,Yuval Itan,Magali Audry,Patrick Nitschke,Cécile Masson,Beáta Tóth,Jérome Flatot,Mélanie Migaud,Maya Chrabieh,Tatiana Kochetkov,Alexandre Bolze,Alexandre Bolze,Alessandro Borghesi,Antoine Toulon,J. Hiller,Stefanie Eyerich,Kilian Eyerich,Vera Gulácsy,Ludmyla Chernyshova,Viktor P. Chernyshov,Anastasia Bondarenko,Rosa María Cortés Grimaldo,Lizbeth Blancas-Galicia,Ileana Maria Madrigal Beas,Joachim Roesler,Klaus Magdorf,Dan Engelhard,Caroline Thumerelle,Pierre-Régis Burgel,Miriam Hoernes,Barbara Drexel,Reinhard Seger,Theresia Kusuma,Annette Jansson,Julie Sawalle-Belohradsky,Bernd H. Belohradsky,Emmanuelle Jouanguy,Emmanuelle Jouanguy,Jacinta Bustamante,Mélanie Bué,Nathan Karin,Gizi Wildbaum,Christine Bodemer,Olivier Lortholary,Alain Fischer,Stéphane Blanche,Saleh Al-Muhsen,Janine Reichenbach,Masao Kobayashi,Francisco Espinosa Rosales,Carlos Torres Lozano,Sara Sebnem Kilic,Matías Oleastro,Amos Etzioni,Claudia Traidl-Hoffmann,Ellen D. Renner,Laurent Abel,Laurent Abel,Capucine Picard,Capucine Picard,László Maródi,Stéphanie Boisson-Dupuis,Stéphanie Boisson-Dupuis,Anne Puel,Jean-Laurent Casanova +70 more
TL;DR: Whole-exome sequencing reveals activating STAT1 mutations in some patients with autosomal dominant chronic mucocutaneous candidiasis disease.