A novel X‐linked recessive form of Mendelian susceptibility to mycobaterial disease

por Bustamante, Jacinta, Picard, Capucine, Fieschi, Claire, Filipe‐Santos, Orchidée, Feinberg, Jacqueline, Perronne, Christian, Chapgier, Ariane, de Beaucoudrey, Ludovic, Vogt, Guillaume, Sanlaville, Damien, Lemainque, Arnaud, Emile, Jean‐François, Abel, Laurent, Casanova, Jean‐Laurent
Publicado 2007

A partial form of recessive STAT1 deficiency in humans

por Chapgier, Ariane, Kong, Xiao-Fei, Boisson-Dupuis, Stéphanie, Jouanguy, Emmanuelle, Averbuch, Diana, Feinberg, Jacqueline, Zhang, Shen-Ying, Bustamante, Jacinta, Vogt, Guillaume, Lejeune, Julien, Mayola, Eleonore, de Beaucoudrey, Ludovic, Abel, Laurent, Engelhard, Dan, Casanova, Jean-Laurent
Publicado 2009

Accounting for genetic heterogeneity in homozygosity mapping: Application to Mendelian susceptibility to mycobacterial disease

por Grant, Audrey V., Boisson-Dupuis, Stéphanie, Herquelot, Eléonore, de Beaucoudrey, Ludovic, Filipe-Santos, Orchidée, Nolan, Daniel K., Feinberg, Jacqueline, Boland, Anne, Sanal, Ozden, Camcioglu, Yildiz, Palanduz, Ayse, Kilic, Sara Sebnem, Bustamante, Jacinta, Casanova, Jean-Laurent, Abel, Laurent
Publicado 2011

Novel STAT1 Alleles in Otherwise Healthy Patients with Mycobacterial Disease

por Chapgier, Ariane, Boisson-Dupuis, Stéphanie, Jouanguy, Emmanuelle, Vogt, Guillaume, Feinberg, Jacqueline, Prochnicka-Chalufour, Ada, Casrouge, Armanda, Yang, Kun, Soudais, Claire, Fieschi, Claire, Santos, Orchidée Filipe, Bustamante, Jacinta, Picard, Capucine, de Beaucoudrey, Ludovic, Emile, Jean-François, Arkwright, Peter D, Schreiber, Robert D, Rolinck-Werninghaus, Claudia, Rösen-Wolff, Angela, Magdorf, Klaus, Roesler, Joachim, Casanova, Jean-Laurent
Publicado 2006

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

por Bustamante, Jacinta, Arias, Andres A, Vogt, Guillaume, Picard, Capucine, Galicia, Lizbeth Blancas, Prando, Carolina, Grant, Audrey V, Marchal, Christophe C, Hubeau, Marjorie, Chapgier, Ariane, de Beaucoudrey, Ludovic, Puel, Anne, Feinberg, Jacqueline, Valinetz, Ethan, Jannière, Lucile, Besse, Céline, Boland, Anne, Brisseau, Jean-Marie, Blanche, Stéphane, Lortholary, Olivier, Fieschi, Claire, Emile, Jean-François, Boisson-Dupuis, Stéphanie, Al-Muhsen, Saleh, Woda, Bruce, Newburger, Peter E, Condino-Neto, Antonio, Dinauer, Mary C, Abel, Laurent, Casanova, Jean-Laurent
Publicado 2011

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

por Filipe-Santos, Orchidée, Bustamante, Jacinta, Haverkamp, Margje H., Vinolo, Emilie, Ku, Cheng-Lung, Puel, Anne, Frucht, David M., Christel, Karin, von Bernuth, Horst, Jouanguy, Emmanuelle, Feinberg, Jacqueline, Durandy, Anne, Senechal, Brigitte, Chapgier, Ariane, Vogt, Guillaume, de Beaucoudrey, Ludovic, Fieschi, Claire, Picard, Capucine, Garfa, Meriem, Chemli, Jalel, Bejaoui, Mohamed, Tsolia, Maria N., Kutukculer, Necil, Plebani, Alessandro, Notarangelo, Luigi, Bodemer, Christine, Geissmann, Frédéric, Israël, Alain, Véron, Michel, Knackstedt, Maike, Barbouche, Ridha, Abel, Laurent, Magdorf, Klaus, Gendrel, Dominique, Agou, Fabrice, Holland, Steven M., Casanova, Jean-Laurent
Publicado 2006

Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

por de Beaucoudrey, Ludovic, Puel, Anne, Filipe-Santos, Orchidée, Cobat, Aurélie, Ghandil, Pegah, Chrabieh, Maya, Feinberg, Jacqueline, von Bernuth, Horst, Samarina, Arina, Jannière, Lucile, Fieschi, Claire, Stéphan, Jean-Louis, Boileau, Catherine, Lyonnet, Stanislas, Jondeau, Guillaume, Cormier-Daire, Valérie, Le Merrer, Martine, Hoarau, Cyrille, Lebranchu, Yvon, Lortholary, Olivier, Chandesris, Marie-Olivia, Tron, François, Gambineri, Eleonora, Bianchi, Lucia, Rodriguez-Gallego, Carlos, Zitnik, Simona E., Vasconcelos, Julia, Guedes, Margarida, Vitor, Artur Bonito, Marodi, Laszlo, Chapel, Helen, Reid, Brenda, Roifman, Chaim, Nadal, David, Reichenbach, Janine, Caragol, Isabel, Garty, Ben-Zion, Dogu, Figen, Camcioglu, Yildiz, Gülle, Sanyie, Sanal, Ozden, Fischer, Alain, Abel, Laurent, Stockinger, Birgitta, Picard, Capucine, Casanova, Jean-Laurent
Publicado 2008

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 2010