IRF4 haploinsufficiency in a family with Whipple’s disease

por Guérin, Antoine, Kerner, Gaspard, Marr, Nico, Markle, Janet G, Fenollar, Florence, Wong, Natalie, Boughorbel, Sabri, Avery, Danielle T, Ma, Cindy S, Bougarn, Salim, Bouaziz, Matthieu, Béziat, Vivien, Della Mina, Erika, Oleaga-Quintas, Carmen, Lazarov, Tomi, Worley, Lisa, Nguyen, Tina, Patin, Etienne, Deswarte, Caroline, Martinez-Barricarte, Rubén, Boucherit, Soraya, Ayral, Xavier, Edouard, Sophie, Boisson-Dupuis, Stéphanie, Rattina, Vimel, Bigio, Benedetta, Vogt, Guillaume, Geissmann, Frédéric, Quintana-Murci, Lluis, Chaussabel, Damien, Tangye, Stuart G, Raoult, Didier, Abel, Laurent, Bustamante, Jacinta, Casanova, Jean-Laurent
Publicado 2018

Severe influenza pneumonitis in children with inherited TLR3 deficiency

por Lim, Hye Kyung, Huang, Sarah X.L., Chen, Jie, Kerner, Gaspard, Gilliaux, Olivier, Bastard, Paul, Dobbs, Kerry, Hernandez, Nicholas, Goudin, Nicolas, Hasek, Mary L., García Reino, Eduardo Javier, Lafaille, Fabien G., Lorenzo, Lazaro, Luthra, Priya, Kochetkov, Tatiana, Bigio, Benedetta, Boucherit, Soraya, Rozenberg, Flore, Vedrinne, Catherine, Keller, Michael D., Itan, Yuval, García-Sastre, Adolfo, Celard, Marie, Orange, Jordan S., Ciancanelli, Michael J., Meyts, Isabelle, Zhang, Qian, Abel, Laurent, Notarangelo, Luigi D., Snoeck, Hans-Willem, Casanova, Jean-Laurent, Zhang, Shen-Ying
Publicado 2019

Impaired respiratory burst contributes to infections in PKCδ-deficient patients

por Neehus, Anna-Lena, Moriya, Kunihiko, Nieto-Patlán, Alejandro, Le Voyer, Tom, Lévy, Romain, Özen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Yildiran, Alisan, Altundag, Engin, Roynard, Manon, Haake, Kathrin, Migaud, Mélanie, Dorgham, Karim, Gorochov, Guy, Abel, Laurent, Lachmann, Nico, Dogu, Figen, Haskologlu, Sule, İnce, Erdal, El-Benna, Jamel, Uzel, Gulbu, Kiykim, Ayca, Boztug, Kaan, Roderick, Marion R., Shahrooei, Mohammad, Brogan, Paul A., Abolhassani, Hassan, Hancioglu, Gonca, Parvaneh, Nima, Belot, Alexandre, Ikinciogullari, Aydan, Casanova, Jean-Laurent, Puel, Anne, Bustamante, Jacinta
Publicado 2021

Autoantibody discovery across monogenic, acquired, and COVID19-associated autoimmunity with scalable PhIP-Seq

por Vazquez, Sara E, Mann, Sabrina A, Bodansky, Aaron, Kung, Andrew F, Quandt, Zoe, Ferré, Elise M. N., Landegren, Nils, Eriksson, Daniel, Bastard, Paul, Zhang, Shen-Ying, Liu, Jamin, Mitchell, Anthea, Mandel-Brehm, Caleigh, Miao, Brenda, Sowa, Gavin, Zorn, Kelsey, Chan, Alice Y., Shimizu, Chisato, Tremoulet, Adriana, Lynch, Kara, Wilson, Michael R., Kampe, Olle, Dobbs, Kerry, Delmonte, Ottavia M., Notarangelo, Luigi D., Burns, Jane C., Casanova, Jean-Laurent, Lionakis, Michail S., Torgerson, Troy R., Anderson, Mark S, DeRisi, Joseph L
Publicado 2022

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

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

por 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
Publicado 2016

Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

por Abolhassani, Hassan, Edwards, Emily S.J., Ikinciogullari, Aydan, Jing, Huie, Borte, Stephan, Buggert, Marcus, Du, Likun, Matsuda-Lennikov, Mami, Romano, Rosa, Caridha, Rozina, Bade, Sangeeta, Zhang, Yu, Frederiksen, Juliet, Fang, Mingyan, Bal, Sevgi Kostel, Haskologlu, Sule, Dogu, Figen, Tacyildiz, Nurdan, Matthews, Helen F., McElwee, Joshua J., Gostick, Emma, Price, David A., Palendira, Umaimainthan, Aghamohammadi, Asghar, Boisson, Bertrand, Rezaei, Nima, Karlsson, Annika C., Lenardo, Michael J., Casanova, Jean-Laurent, Hammarström, Lennart, Tangye, Stuart G., Su, Helen C., Pan-Hammarström, Qiang
Publicado 2017

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

por Hernandez, Nicholas, Melki, Isabelle, Jing, Huie, Habib, Tanwir, Huang, Susie S.Y., Danielson, Jeffrey, Kula, Tomasz, Drutman, Scott, Belkaya, Serkan, Rattina, Vimel, Lorenzo-Diaz, Lazaro, Boulai, Anais, Rose, Yoann, Kitabayashi, Naoki, Rodero, Mathieu P., Dumaine, Cecile, Blanche, Stéphane, Lebras, Marie-Noëlle, Leung, Man Chun, Mathew, Lisa Sara, Boisson, Bertrand, Zhang, Shen-Ying, Boisson-Dupuis, Stephanie, Giliani, Silvia, Chaussabel, Damien, Notarangelo, Luigi D., Elledge, Stephen J., Ciancanelli, Michael J., Abel, Laurent, Zhang, Qian, Marr, Nico, Crow, Yanick J., Su, Helen C., Casanova, Jean-Laurent
Publicado 2018

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

por Asano, Takaki, Khourieh, Joëlle, Zhang, Peng, Rapaport, Franck, Spaan, András N., Li, Juan, Lei, Wei-Te, Pelham, Simon J., Hum, David, Chrabieh, Maya, Han, Ji Eun, Guérin, Antoine, Mackie, Joseph, Gupta, Sudhir, Saikia, Biman, Baghdadi, Jamila E.I., Fadil, Ilham, Bousfiha, Aziz, Habib, Tanwir, Marr, Nico, Ganeshanandan, Luckshman, Peake, Jane, Droney, Luke, Williams, Andrew, Celmeli, Fatih, Hatipoglu, Nevin, Ozcelik, Tayfun, Picard, Capucine, Abel, Laurent, Tangye, Stuart G., Boisson-Dupuis, Stéphanie, Zhang, Qian, Puel, Anne, Béziat, Vivien, Casanova, Jean-Laurent, Boisson, Bertrand
Publicado 2021

Human NLRP1 is a sensor of pathogenic coronavirus 3CL proteases in lung epithelial cells

por Planès, Rémi, Pinilla, Miriam, Santoni, Karin, Hessel, Audrey, Passemar, Charlotte, Lay, Kenneth, Paillette, Perrine, Valadão, Ana-Luiza Chaves, Robinson, Kim Samirah, Bastard, Paul, Lam, Nathaniel, Fadrique, Ricardo, Rossi, Ida, Pericat, David, Bagayoko, Salimata, Leon-Icaza, Stephen Adonai, Rombouts, Yoann, Perouzel, Eric, Tiraby, Michèle, Zhang, Qian, Cicuta, Pietro, Jouanguy, Emmanuelle, Neyrolles, Olivier, Bryant, Clare E., Floto, Andres R., Goujon, Caroline, Lei, Franklin Zhong, Martin-Blondel, Guillaume, Silva, Stein, Casanova, Jean-Laurent, Cougoule, Céline, Reversade, Bruno, Marcoux, Julien, Ravet, Emmanuel, Meunier, Etienne
Publicado 2022

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

por Campbell, Tessa Mollie, Liu, Zhiyong, Zhang, Qian, Moncada-Velez, Marcela, Covill, Laura E., Zhang, Peng, Alavi Darazam, Ilad, Bastard, Paul, Bizien, Lucy, Bucciol, Giorgia, Lind Enoksson, Sara, Jouanguy, Emmanuelle, Karabela, Şemsi Nur, Khan, Taushif, Kendir-Demirkol, Yasemin, Arias, Andres Augusto, Mansouri, Davood, Marits, Per, Marr, Nico, Migeotte, Isabelle, Moens, Leen, Ozcelik, Tayfun, Pellier, Isabelle, Sendel, Anton, Şenoğlu, Sevtap, Shahrooei, Mohammad, Smith, C.I. Edvard, Vandernoot, Isabelle, Willekens, Karen, Kart Yaşar, Kadriye, Bergman, Peter, Abel, Laurent, Cobat, Aurélie, Casanova, Jean-Laurent, Meyts, Isabelle, Bryceson, Yenan T.
Publicado 2022

Human T-bet governs the generation of a distinct subset of CD11c(high)CD21(low) B cells

por Yang, Rui, Avery, Danielle T., Jackson, Katherine J. L., Ogishi, Masato, Benhsaien, Ibtihal, Du, Likun, Ye, Xiaofei, Han, Jing, Rosain, Jérémie, Peel, Jessica N., Alyanakian, Marie-Alexandra, Neven, Bénédicte, Winter, Sarah, Puel, Anne, Boisson, Bertrand, Payne, Kathryn J., Wong, Melanie, Russell, Amanda J., Mizoguchi, Yoko, Okada, Satoshi, Uzel, Gulbu, Goodnow, Christopher C., Latour, Sylvain, Bakkouri, Jalila El, Bousfiha, Aziz, Preece, Kahn, Gray, Paul E., Keller, Baerbel, Warnatz, Klaus, Boisson-Dupuis, Stéphanie, Abel, Laurent, Pan-Hammarström, Qiang, Bustamante, Jacinta, Ma, Cindy S., Casanova, Jean-Laurent, Tangye, Stuart G.
Publicado 2022

Correction: Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

por Campbell, Tessa Mollie, Liu, Zhiyong, Zhang, Qian, Moncada-Velez, Marcela, Covill, Laura E., Zhang, Peng, Darazam, Ilad Alavi, Bastard, Paul, Bizien, Lucy, Bucciol, Giorgia, Enoksson, Sara Lind, Jouanguy, Emmanuelle, Karabela, Şemsi Nur, Khan, Taushif, Kendir-Demirkol, Yasemin, Arias, Andres Augusto, Mansouri, Davood, Marits, Per, Marr, Nico, Migeotte, Isabelle, Moens, Leen, Ozcelik, Tayfun, Pellier, Isabelle, Sendel, Anton, Şenoğlu, Sevtap, Shahrooei, Mohammad, Smith, C.I. Edvard, Vandernoot, Isabelle, Willekens, Karen, Yaşar, Kadriye Kart, Bergman, Peter, Abel, Laurent, Cobat, Aurélie, Casanova, Jean-Laurent, Meyts, Isabelle, Bryceson, Yenan T.
Publicado 2022

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

por Bucciol, Giorgia, Moens, Leen, Ogishi, Masato, Rinchai, Darawan, Matuozzo, Daniela, Momenilandi, Mana, Kerrouche, Nacim, Cale, Catherine M., Treffeisen, Elsa R., Al Salamah, Mohammad, Al-Saud, Bandar K., Lachaux, Alain, Duclaux-Loras, Remi, Meignien, Marie, Bousfiha, Aziz, Benhsaien, Ibtihal, Shcherbina, Anna, Roppelt, Anna, Gothe, Florian, Houhou-Fidouh, Nadhira, Hackett, Scott J., Bartnikas, Lisa M., Maciag, Michelle C., Alosaimi, Mohammed F., Chou, Janet, Mohammed, Reem W., Freij, Bishara J., Jouanguy, Emmanuelle, Zhang, Shen-Ying, Boisson-Dupuis, Stephanie, Béziat, Vivien, Zhang, Qian, Duncan, Christopher J.A., Hambleton, Sophie, Casanova, Jean-Laurent, Meyts, Isabelle
Publicado 2023

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

por 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
Publicado 2007

The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

por de Jong, Sarah Jill, Créquer, Amandine, Matos, Irina, Hum, David, Gunasekharan, Vignesh, Lorenzo, Lazaro, Jabot-Hanin, Fabienne, Imahorn, Elias, Arias, Andres A., Vahidnezhad, Hassan, Youssefian, Leila, Markle, Janet G., Patin, Etienne, D’Amico, Aurelia, Wang, Claire Q.F., Full, Florian, Ensser, Armin, Leisner, Tina M., Parise, Leslie V., Bouaziz, Matthieu, Maya, Nataly Portilla, Cadena, Xavier Rueda, Saka, Bayaki, Saeidian, Amir Hossein, Aghazadeh, Nessa, Zeinali, Sirous, Itin, Peter, Krueger, James G., Laimins, Lou, Abel, Laurent, Fuchs, Elaine, Uitto, Jouni, Franco, Jose Luis, Burger, Bettina, Orth, Gérard, Jouanguy, Emmanuelle, Casanova, Jean-Laurent
Publicado 2018

Disruption of an anti-mycobacterial circuit between dendritic and Th cells in human SPPL2a deficiency

por Kong, Xiao-Fei, Martinez-Barricarte, Ruben, Kennedy, James, Mele, Federico, Lazarov, Tomi, Deenick, Elissa K, Ma, Cindy S, Breton, Gaëlle, Lucero, Kimberly B, Langlais, David, Bousfiha, Aziz, Aytekin, Caner, Markle, Janet, Trouillet, Céline, Jabot-Hanin, Fabienne, Lindestam Arlehamn, Cecilia S., Rao, Geetha, Picard, Capucine, Lasseau, Théo, Latorre, Daniela, Hambleton, Sophie, Deswarte, Caroline, Itan, Yuval, Abarca, Katia, Moraes-Vasconcelos, Dewton, Ailal, Fatima, Ikinciogullari, Aydan, Dogu, Figen, Benhsaien, Ibtihal, Sette, Alessandro, Abel, Laurent, Boisson-Dupuis, Stéphanie, Schröder, Bernd, Nussenzweig, Michel C., Liu, Kang, Geissmann, Frédéric, Tangye, Stuart G., Gros, Philippe, Sallusto, Federica, Bustamante, Jacinta, Casanova, Jean-Laurent
Publicado 2018

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

por Martin-Fernandez, Marta, García-Morato, María Bravo, Gruber, Conor, Loza, Sara Murias, Malik, Muhammad Nasir Hayat, Alsohime, Fahad, Alakeel, Abdullah, Valdez, Rita, Buta, Sofija, Buda, Guadalupe, Marti, Marcelo A., Larralde, Margarita, Boisson, Bertrand, Rodriguez, Marta Feito, Qiu, Xueer, Chrabieh, Maya, Ayed, Mohammed Al, Muhsen, Saleh Al, Desai, Jigar V., Ferre, Elise M.N., Rosenzweig, Sergio D., Amador-Borrero, Blanca, Bravo-Gallego, Luz Yadira, Olmer, Ruth, Merkert, Sylvia, Bret, Montserrat, Sood, Amika K., Al-rabiaah, Abdulkarim, Temsah, Mohamad Hani, Halwani, Rabih, Hernandez, Michelle, Pessler, Frank, Casanova, Jean-Laurent, Bustamante, Jacinta, Lionakis, Michail S., Bogunovic, Dusan
Publicado 2020

Inhibition of HECT E3 ligases as potential therapy for COVID-19

por Novelli, Giuseppe, Liu, Jing, Biancolella, Michela, Alonzi, Tonino, Novelli, Antonio, Patten, J. J., Cocciadiferro, Dario, Agolini, Emanuele, Colona, Vito Luigi, Rizzacasa, Barbara, Giannini, Rosalinda, Bigio, Benedetta, Goletti, Delia, Capobianchi, Maria Rosaria, Grelli, Sandro, Mann, Justin, McKee, Trevor D., Cheng, Ke, Amanat, Fatima, Krammer, Florian, Guarracino, Andrea, Pepe, Gerardo, Tomino, Carlo, Tandjaoui-Lambiotte, Yacine, Uzunhan, Yurdagul, Tubiana, Sarah, Ghosn, Jade, Notarangelo, Luigi D., Su, Helen C., Abel, Laurent, Cobat, Aurélie, Elhanan, Gai, Grzymski, Joseph J., Latini, Andrea, Sidhu, Sachdev S., Jain, Suresh, Davey, Robert A., Casanova, Jean-Laurent, Wei, Wenyi, Pandolfi, Pier Paolo
Publicado 2021

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

por Li, Juan, Lei, Wei-Te, Zhang, Peng, Rapaport, Franck, Seeleuthner, Yoann, Lyu, Bingnan, Asano, Takaki, Rosain, Jérémie, Hammadi, Boualem, Zhang, Yu, Pelham, Simon J., Spaan, András N., Migaud, Mélanie, Hum, David, Bigio, Benedetta, Chrabieh, Maya, Béziat, Vivien, Bustamante, Jacinta, Zhang, Shen-Ying, Jouanguy, Emmanuelle, Boisson-Dupuis, Stephanie, El Baghdadi, Jamila, Aimanianda, Vishukumar, Thoma, Katharina, Fliegauf, Manfred, Grimbacher, Bodo, Korganow, Anne-Sophie, Saunders, Carol, Rao, V. Koneti, Uzel, Gulbu, Freeman, Alexandra F., Holland, Steven M., Su, Helen C., Cunningham-Rundles, Charlotte, Fieschi, Claire, Abel, Laurent, Puel, Anne, Cobat, Aurélie, Casanova, Jean-Laurent, Zhang, Qian, Boisson, Bertrand
Publicado 2021