Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

by Boisson, Bertrand, Laplantine, Emmanuel, Dobbs, Kerry, Cobat, Aurélie, Tarantino, Nadine, Hazen, Melissa, Lidov, Hart G.W., Hopkins, Gregory, Du, Likun, Belkadi, Aziz, Chrabieh, Maya, Itan, Yuval, Picard, Capucine, Fournet, Jean-Christophe, Eibel, Hermann, Tsitsikov, Erdyni, Pai, Sung-Yun, Abel, Laurent, Al-Herz, Waleed, Casanova, Jean-Laurent, Israel, Alain, Notarangelo, Luigi D.
Published 2015

Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

by Boisson, Bertrand, Laplantine, Emmanuel, Prando, Carolina, Giliani, Silvia, Israelsson, Elisabeth, Xu, Zhaohui, Abhyankar, Avinash, Israël, Laura, Trevejo-Nunez, Giraldina, Bogunovic, Dusan, Cepika, Alma-Martina, MacDuff, Donna, Chrabieh, Maya, Hubeau, Marjorie, Bajolle, Fanny, Debré, Marianne, Mazzolari, Evelina, Vairo, Donatella, Agou, Fabrice, Virgin, Herbert W., Bossuyt, Xavier, Rambaud, Caroline, Facchetti, Fabio, Bonnet, Damien, Quartier, Pierre, Fournet, Jean-Christophe, Pascual, Virginia, Chaussabel, Damien, Notarangelo, Luigi D., Puel, Anne, Israël, Alain, Casanova, Jean-Laurent, Picard, Capucine
Published 2012

Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations

by Wang, Yi, Ma, Cindy S., Ling, Yun, Bousfiha, Aziz, Camcioglu, Yildiz, Jacquot, Serge, Payne, Kathryn, Crestani, Elena, Roncagalli, Romain, Belkadi, Aziz, Kerner, Gaspard, Lorenzo, Lazaro, Deswarte, Caroline, Chrabieh, Maya, Patin, Etienne, Vincent, Quentin B., Müller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Ailal, Fatima, Quintana-Murci, Lluis, Fraitag, Sylvie, Alyanakian, Marie-Alexandra, Leruez-Ville, Marianne, Picard, Capucine, Puel, Anne, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Malissen, Marie, Malissen, Bernard, Abel, Laurent, Hovnanian, Alain, Notarangelo, Luigi D., Jouanguy, Emmanuelle, Tangye, Stuart G., Béziat, Vivien, Casanova, Jean-Laurent
Published 2016

Selective predisposition to bacterial infections in IRAK-4–deficient children: IRAK-4–dependent TLRs are otherwise redundant in protective immunity

by Ku, Cheng-Lung, von Bernuth, Horst, Picard, Capucine, Zhang, Shen-Ying, Chang, Huey-Hsuan, Yang, Kun, Chrabieh, Maya, Issekutz, Andrew C., Cunningham, Coleen K., Gallin, John, Holland, Steven M., Roifman, Chaim, Ehl, Stephan, Smart, Joanne, Tang, Mimi, Barrat, Franck J., Levy, Ofer, McDonald, Douglas, Day-Good, Noorbibi K., Miller, Richard, Takada, Hidetoshi, Hara, Toshiro, Al-Hajjar, Sami, Al-Ghonaium, Abdulaziz, Speert, David, Sanlaville, Damien, Li, Xiaoxia, Geissmann, Frédéric, Vivier, Eric, Maródi, László, Garty, Ben-Zion, Chapel, Helen, Rodriguez-Gallego, Carlos, Bossuyt, Xavier, Abel, Laurent, Puel, Anne, Casanova, Jean-Laurent
Published 2007

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

by 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
Published 2011