Søgeresultater - Boisson-Dupuis, Stéphanie
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Human STAT1 gain-of-function heterozygous mutations: chronic mucocutaneous candidiasis and type I interferonopathy af Okada, Satoshi, Asano, Takaki, Moriya, Kunihiko, Boisson-Dupuis, Stephanie, Kobayashi, Masao, Casanova, Jean-Laurent, Puel, Anne
Udgivet 2020Text -
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Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes af Boisson-Dupuis, Stephanie, Kong, Xiao-Fei, Okada, Satoshi, Cypowyj, Sophie, Puel, Anne, Abel, Laurent, Casanova, Jean-Laurent
Udgivet 2012Text -
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Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years af Kerner, Gaspard, Laval, Guillaume, Patin, Etienne, Boisson-Dupuis, Stéphanie, Abel, Laurent, Casanova, Jean-Laurent, Quintana-Murci, Lluis
Udgivet 2021Text -
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Induction of MxA Gene Expression by Influenza A Virus Requires Type I or Type III Interferon Signaling af Holzinger, Dirk, Jorns, Carl, Stertz, Silke, Boisson-Dupuis, Stéphanie, Thimme, Robert, Weidmann, Manfred, Casanova, Jean-Laurent, Haller, Otto, Kochs, Georg
Udgivet 2007Text -
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Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN–γ receptor–1 deficiency af Karaca, Neslihan Edeer, Boisson-Dupuis, Stephanie, Aksu, Güzide, Bustamante, Jacinta, Kandiloglu, Gulsen, Ozsan, Nazan, Hekimgil, Mine, Casanova, Jean-Laurent, Kutukculer, Necil
Udgivet 2012Text -
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Treatment of Disseminated Mycobacterial Infection with High-Dose IFN-γ in a Patient with IL-12Rβ1 Deficiency af Alangari, Abdullah A., Al-Zamil, Fahad, Al-Mazrou, Abdulrahman, Al-Muhsen, Saleh, Boisson-Dupuis, Stéphanie, Awadallah, Sitalbanat, Kambal, Abdelmageed, Casanova, Jean-Laurent
Udgivet 2011Text -
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BCG Lymphadenitis and Recurrent Oral Candidiasis in an Infant with a New Mutation Leading to Interleukin-12 Receptor Beta-1 Deficiency af Aytekin, Caner, Dogu, Figen, Tuygun, Nilden, Tanir, Gonul, Guloglu, Deniz, Boisson-Dupuis, Stephanie, Bustamante, Jacinta, Feinberg, Jacqueline, Casanova, Jean-Laurent, Ikinciogullari, Aydan
Udgivet 2011Text -
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Clinical Disease Caused by Klebsiella in 2 Unrelated Patients With Interleukin 12 Receptor β1 Deficiency af Pedraza, Sigifredo, Lezana, Jose Luis, Samarina, Arina, Aldana, Ruth, Herrera, Maria Teresa, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Pages, Perle, Casanova, Jean-Laurent, Picard, Capucine
Udgivet 2010Text -
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Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis af Hirata, Osamu, Okada, Satoshi, Tsumura, Miyuki, Kagawa, Reiko, Miki, Mizuka, Kawaguchi, Hiroshi, Nakamura, Kazuhiro, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Takihara, Yoshihiro, Kobayashi, Masao
Udgivet 2013Text