Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency

por Rosain, Jérémie, Bernasconi, Andrea, Prieto, Emma, Caputi, Lucia, Le Voyer, Tom, Buda, Guadalupe, Marti, Marcelo, Bohlen, Jonathan, Neehus, Anna-Lena, Castaños, Claudio, Gallagher, Rosario, Dorgham, Karim, Oleastro, Matias, Perez, Laura, Danielian, Silvia, Dipierri, Jose Edgardo, Casanova, Jean-Laurent, Bustamante, Jacinta, Villa, Mariana
Publicado 2022

Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience

por Urdinez, Luciano, Erra, Lorenzo, Palma, Alejandro M., Mercogliano, María F., Fernandez, Julieta Belén, Prieto, Emma, Goris, Verónica, Bernasconi, Andrea, Sanz, Marianela, Villa, Mariana, Bouso, Carolina, Caputi, Lucia, Quesada, Belen, Solis, Daniel, Aguirre Bruzzo, Anabel, Katsicas, Maria Martha, Galluzzo, Laura, Weyersberg, Christian, Bocian, Marcela, Bujan, Maria Marta, Oleastro, Matías, Almejun, María B., Danielian, Silvia
Publicado 2022

Germline hypomorphic CARD11 mutations in severe atopic disease

por Ma, Chi A, Stinson, Jeffrey R, Zhang, Yuan, Abbott, Jordan K, Weinreich, Michael A, Hauk, Pia J, Reynolds, Paul R, Lyons, Jonathan J, Nelson, Celeste G, Ruffo, Elisa, Dorjbal, Batsukh, Glauzy, Salomé, Yamakawa, Natsuko, Arjunaraja, Swadhinya, Voss, Kelsey, Stoddard, Jennifer, Niemela, Julie, Zhang, Yu, Rosenzweig, Sergio D, McElwee, Joshua J, DiMaggio, Thomas, Matthews, Helen F, Jones, Nina, Stone, Kelly D, Palma, Alejandro, Oleastro, Matías, Prieto, Emma, Bernasconi, Andrea R, Dubra, Geronimo, Danielian, Silvia, Zaiat, Jonathan, Marti, Marcelo A, Kim, Brian, Cooper, Megan A, Romberg, Neil D, Meffre, Eric, Gelfand, Erwin W, Snow, Andrew L, Milner, Joshua D
Publicado 2017

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