Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

por Boisson-Dupuis, Stephanie, Kong, Xiao-Fei, Okada, Satoshi, Cypowyj, Sophie, Puel, Anne, Abel, Laurent, Casanova, Jean-Laurent
Publicado 2012

Low Circulating Natural Killer Cell Counts are Associated With Severe Disease in Patients With Common Variable Immunodeficiency

por Ebbo, Mikael, Gérard, Laurence, Carpentier, Sabrina, Vély, Frédéric, Cypowyj, Sophie, Farnarier, Catherine, Vince, Nicolas, Malphettes, Marion, Fieschi, Claire, Oksenhendler, Eric, Schleinitz, Nicolas, Vivier, Eric
Publicado 2016

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

por Soltész, Beáta, Tóth, Beáta, Shabashova, Nadejda, Bondarenko, Anastasia, Okada, Satoshi, Cypowyj, Sophie, Abhyankar, Avinash, Csorba, Gabriella, Taskó, Szilvia, Sarkadi, Adrien Katalin, Méhes, Leonóra, Rozsíval, Pavel, Neumann, David, Chernyshova, Liudmyla, Tulassay, Zsolt, Puel, Anne, Casanova, Jean-Laurent, Sediva, Anna, Litzman, Jiri, Maródi, László
Publicado 2013

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

por Ling, Yun, Cypowyj, Sophie, Aytekin, Caner, Galicchio, Miguel, Camcioglu, Yildiz, Nepesov, Serdar, Ikinciogullari, Aydan, Dogu, Figen, Belkadi, Aziz, Levy, Romain, Migaud, Mélanie, Boisson, Bertrand, Bolze, Alexandre, Itan, Yuval, Goudin, Nicolas, Cottineau, Julien, Picard, Capucine, Abel, Laurent, Bustamante, Jacinta, Casanova, Jean-Laurent, Puel, Anne
Publicado 2015

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

por Liu, Luyan, Okada, Satoshi, Kong, Xiao-Fei, Kreins, Alexandra Y., Cypowyj, Sophie, Abhyankar, Avinash, Toubiana, Julie, Itan, Yuval, Audry, Magali, Nitschke, Patrick, Masson, Cécile, Toth, Beata, Flatot, Jérome, Migaud, Mélanie, Chrabieh, Maya, Kochetkov, Tatiana, Bolze, Alexandre, Borghesi, Alessandro, Toulon, Antoine, Hiller, Julia, Eyerich, Stefanie, Eyerich, Kilian, Gulácsy, Vera, Chernyshova, Ludmyla, Chernyshov, Viktor, Bondarenko, Anastasia, María Cortés Grimaldo, Rosa, Blancas-Galicia, Lizbeth, Madrigal Beas, Ileana Maria, Roesler, Joachim, Magdorf, Klaus, Engelhard, Dan, Thumerelle, Caroline, Burgel, Pierre-Régis, Hoernes, Miriam, Drexel, Barbara, Seger, Reinhard, Kusuma, Theresia, Jansson, Annette F., Sawalle-Belohradsky, Julie, Belohradsky, Bernd, Jouanguy, Emmanuelle, Bustamante, Jacinta, Bué, Mélanie, Karin, Nathan, Wildbaum, Gizi, Bodemer, Christine, Lortholary, Olivier, Fischer, Alain, Blanche, Stéphane, Al-Muhsen, Saleh, Reichenbach, Janine, Kobayashi, Masao, Rosales, Francisco Espinosa, Lozano, Carlos Torres, Kilic, Sara Sebnem, Oleastro, Matias, Etzioni, Amos, Traidl-Hoffmann, Claudia, Renner, Ellen D., Abel, Laurent, Picard, Capucine, Maródi, László, Boisson-Dupuis, Stéphanie, Puel, Anne, Casanova, Jean-Laurent
Publicado 2011