Naturally occurring mutation affecting the MyD88-binding site of TNFRSF13B impairs triggering of class switch recombination

Por Almejun, Maria B., Cols, Montserrat, Zelazko, Marta, Oleastro, Matias, Cerutti, Andrea, Oppezzo, Pablo, Cunningham-Rundles, Charlotte, Danielian, Silvia
Publicado em 2013

Alanine-scanning mutagenesis of human STAT1 to estimate loss- or gain-of-function variants

Por Kagawa, Reiko, Fujiki, Ryoji, Tsumura, Miyuki, Sakata, Sonoko, Nishimura, Shiho, Itan, Yuval, Kong, Xiao-Fei, Kato, Zenichiro, Ohnishi, Hidenori, Hirata, Osamu, Saito, Satoshi, Ikeda, Maiko, El Baghdadi, Jamila, Bousfiha, Aziz, Fujiwara, Kaori, Oleastro, Matias, Yancoski, Judith, Perez, Laura, Danielian, Silvia, Ailal, Fatima, Takada, Hidetoshi, Hara, Toshiro, Puel, Anne, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Casanova, Jean-Laurent, Ohara, Osamu, Okada, Satoshi, Kobayashi, Masao
Publicado no J Allergy Clin Immunol (2016)

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Por Toubiana, Julie, Okada, Satoshi, Hiller, Julia, Oleastro, Matias, Lagos Gomez, Macarena, Aldave Becerra, Juan Carlos, Ouachée-Chardin, Marie, Fouyssac, Fanny, Girisha, Katta Mohan, Etzioni, Amos, Van Montfrans, Joris, Camcioglu, Yildiz, Kerns, Leigh Ann, Belohradsky, Bernd, Blanche, Stéphane, Bousfiha, Aziz, Rodriguez-Gallego, Carlos, Meyts, Isabelle, Kisand, Kai, Reichenbach, Janine, Renner, Ellen D., Rosenzweig, Sergio, Grimbacher, Bodo, van de Veerdonk, Frank L., Traidl-Hoffmann, Claudia, Picard, Capucine, Marodi, Laszlo, Morio, Tomohiro, Kobayashi, Masao, Lilic, Desa, Milner, Joshua D., Holland, Steven, Casanova, Jean-Laurent, Puel, Anne
Publicado no Blood (2016)

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

Por Lévy, Romain, Okada, Satoshi, Béziat, Vivien, Moriya, Kunihiko, Liu, Caini, Chai, Louis Yi Ann, Migaud, Mélanie, Hauck, Fabian, Al Ali, Amein, Cyrus, Cyril, Vatte, Chittibabu, Patiroglu, Turkan, Unal, Ekrem, Ferneiny, Marie, Hyakuna, Nobuyuki, Nepesov, Serdar, Oleastro, Matias, Ikinciogullari, Aydan, Dogu, Figen, Asano, Takaki, Ohara, Osamu, Yun, Ling, Della Mina, Erika, Bronnimann, Didier, Itan, Yuval, Gothe, Florian, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Tahuil, Natalia, Aytekin, Caner, Salhi, Aicha, Al Muhsen, Saleh, Kobayashi, Masao, Toubiana, Julie, Abel, Laurent, Li, Xiaoxia, Camcioglu, Yildiz, Celmeli, Fatih, Klein, Christoph, AlKhater, Suzan A., Casanova, Jean-Laurent, Puel, Anne
Publicado no Proc Natl Acad Sci U S A (2016)

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 no Nat Genet (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 em 2011

Revisiting Human IL-12Rβ1 Deficiency: A Survey of 141 Patients From 30 Countries

Por de Beaucoudrey, Ludovic, Samarina, Arina, Bustamante, Jacinta, Cobat, Aurélie, Boisson-Dupuis, Stéphanie, Feinberg, Jacqueline, Al-Muhsen, Saleh, Jannière, Lucile, Rose, Yoann, Desurenaim, Maylis, Kong, Xiao-Fei, Filipe-Santos, Orchidée, Chapgier, Ariane, Picard, Capucine, Fischer, Alain, Dogu, Figen, Ikinciogullari, Aydan, Tanir, Gonul, Hajjar, Sami Al, Jumaah, Suliman Al, Frayha, Husn H., AlSum, Zobida, Ajaji, Sulaiman Al, Alangari, Abdullah, Al-Ghonaium, Abdulaziz, Adimi, Parisa, Mansouri, Davood, Mustapha, Imen Ben, Yancoski, Judith, Garty, Ben Zion, Rodriguez-Gallego, Carlos, Caragol, Isabel, Kutukculer, Necil, Kumararatne, Dinanthaka S., Patel, Smita, Doffinger, Rainer, Exley, Andrew, Jeppsson, Olle, Reichenbach, Janine, Nadal, David, Boyko, Yaryna, Pietrucha, Barbara, Anderson, Suzanne, Levin, Michael, Schandené, Liliane, Schepers, Kinda, Efira, André, Mascart, Françoise, Matsuoka, Masao, Sakai, Tatsunori, Siegrist, Claire-Anne, Frecerova, Klara, Blüetters-Sawatzki, Renate, Bernhöft, Jutta, Freihorst, Joachim, Baumann, Ulrich, Richter, Darko, Haerynck, Filomeen, De Baets, Frans, Novelli, Vas, Lammas, David, Vermylen, Christiane, Tuerlinckx, David, Nieuwhof, Chris, Pac, Malgorzata, Haas, Walther H., Müller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Levy, Jacob, Raj, Revathi, Cohen, Aileen Cleary, Lewis, David B., Holland, Steven, Yang, Kuender D., Wang, Xiaochuan, Jiang, Xiaohong Wang, Liping, Yang, Xiqiang, Zhu, Chaomin, Xie, Yuanyuan, Lee, Pamela Pui Wah, Chan, Koon Wing, Chen, Tong-Xin, Castro, Gabriela, Ivelisse, Natera, Codoceo, Ana, King, Alejandra, Bezrodnik, Liliana, Giovani, Daniela Di, Gaillard, Maria Isabel, de Moraes-Vasconcelos, Dewton, Grumach, Anete Sevciovic, Duarte, Alberto Jose da Silva, Aldana, Ruth, Espinosa-Rosales, Francisco Javier, Bejaoui, Mohammed, Bousfiha, Ahmed Aziz, El Baghdadi, Jamila, Özbek, Namik, Aksu, Guzide, Keser, Melike, Somer, Ayper, Hatipoglu, Nevin, Aydogmus, Çigdem, Asilsoy, Suna, Camcioglu, Yildiz, Gülle, Saniye, Ozgur, Tuba T., Ozen, Meteran, Oleastro, Matias, Bernasconi, Andrea, Mamishi, Setareh, Parvaneh, Nima, Rosenzweig, Sergio, Barbouche, Ridha, Pedraza, Sigifredo, Lau, Yu Lung, Ehlayel, Mohammad S., Fieschi, Claire, Abel, Laurent, Sanal, Ozden, Casanova, Jean-Laurent
Publicado em 2010