Genome-wide detection of human variants that disrupt intronic branchpoints

por Zhang, Peng, Philippot, Quentin, Ren, Weicheng, Lei, Wei-Te, Li, Juan, Stenson, Peter D., Palacín, Pere Soler, Colobran, Roger, Boisson, Bertrand, Zhang, Shen-Ying, Puel, Anne, Pan-Hammarström, Qiang, Zhang, Qian, Cooper, David N., Abel, Laurent, Casanova, Jean-Laurent
Publicado 2022

A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia

por Mamoune, Asmaa, Bahuau, Michel, Hamel, Yamina, Serre, Valérie, Pelosi, Michele, Habarou, Florence, Nguyen Morel, Marie-Ange, Boisson, Bertrand, Vergnaud, Sabrina, Viou, Mai Thao, Nonnenmacher, Luc, Piraud, Monique, Nusbaum, Patrick, Vamecq, Joseph, Romero, Norma, Ottolenghi, Chris, Casanova, Jean-Laurent, de Lonlay, Pascale
Publicado 2014

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

por Barthélémy, Inès, Calmels, Nadège, Weiss, Robert B., Tiret, Laurent, Vulin, Adeline, Wein, Nicolas, Peccate, Cécile, Drougard, Carole, Beroud, Christophe, Deburgrave, Nathalie, Thibaud, Jean-Laurent, Escriou, Catherine, Punzón, Isabel, Garcia, Luis, Kaplan, Jean-Claude, Flanigan, Kevin M., Leturcq, France, Blot, Stéphane
Publicado 2020

Single-Cell and Bulk RNA-Sequencing Reveal Differences in Monocyte Susceptibility to Influenza A Virus Infection Between Africans and Europeans

por O’Neill, Mary B., Quach, Hélène, Pothlichet, Julien, Aquino, Yann, Bisiaux, Aurélie, Zidane, Nora, Deschamps, Matthieu, Libri, Valentina, Hasan, Milena, Zhang, Shen-Ying, Zhang, Qian, Matuozzo, Daniela, Cobat, Aurélie, Abel, Laurent, Casanova, Jean-Laurent, Naffakh, Nadia, Rotival, Maxime, Quintana-Murci, Lluis
Publicado 2021

Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC

por Noma, Kosuke, Tsumura, Miyuki, Nguyen, Tina, Asano, Takaki, Sakura, Fumiaki, Tamaura, Moe, Imanaka, Yusuke, Mizoguchi, Yoko, Karakawa, Shuhei, Hayakawa, Seiichi, Shoji, Takayo, Hosokawa, Junichi, Izawa, Kazushi, Ling, Yun, Casanova, Jean-Laurent, Puel, Anne, Tangye, Stuart G, Ma, Cindy S, Ohara, Osamu, Okada, Satoshi
Publicado 2023

Evolutionary Dynamics of Human Toll-Like Receptors and Their Different Contributions to Host Defense

por Barreiro, Luis B., Ben-Ali, Meriem, Quach, Hélène, Laval, Guillaume, Patin, Etienne, Pickrell, Joseph K., Bouchier, Christiane, Tichit, Magali, Neyrolles, Olivier, Gicquel, Brigitte, Kidd, Judith R., Kidd, Kenneth K., Alcaïs, Alexandre, Ragimbeau, Josiane, Pellegrini, Sandra, Abel, Laurent, Casanova, Jean-Laurent, Quintana-Murci, Lluís
Publicado 2009

Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis

por Cobat, Aurelie, Gallant, Caroline J., Simkin, Leah, Black, Gillian F., Stanley, Kim, Hughes, Jane, Doherty, T. Mark, Hanekom, Willem A., Eley, Brian, Jaïs, Jean-Philippe, Boland-Auge, Anne, van Helden, Paul, Casanova, Jean-Laurent, Abel, Laurent, Hoal, Eileen G., Schurr, Erwin, Alcaïs, Alexandre
Publicado 2009

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

por Soltész, Beáta, Tóth, Beáta, Shabashova, Nadejda, Bondarenko, Anastasia, Okada, Satoshi, Cypowyj, Sophie, Abhyankar, Avinash, Csorba, Gabriella, Taskó, Szilvia, Sarkadi, Adrien Katalin, Méhes, Leonóra, Rozsíval, Pavel, Neumann, David, Chernyshova, Liudmyla, Tulassay, Zsolt, Puel, Anne, Casanova, Jean-Laurent, Sediva, Anna, Litzman, Jiri, Maródi, László
Publicado 2013

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

por Ling, Yun, Cypowyj, Sophie, Aytekin, Caner, Galicchio, Miguel, Camcioglu, Yildiz, Nepesov, Serdar, Ikinciogullari, Aydan, Dogu, Figen, Belkadi, Aziz, Levy, Romain, Migaud, Mélanie, Boisson, Bertrand, Bolze, Alexandre, Itan, Yuval, Goudin, Nicolas, Cottineau, Julien, Picard, Capucine, Abel, Laurent, Bustamante, Jacinta, Casanova, Jean-Laurent, Puel, Anne
Publicado 2015

A three-dimensional model of human lung development and disease from pluripotent stem cells

por Chen, Ya-Wen, Huang, Sarah Xuelian, de Carvalho, Ana Luisa Rodrigues Toste, Ho, Siu-Hong, Islam, Mohammad Naimul, Volpi, Stefano, Notarangelo, Luigi D, Ciancanelli, Michael, Casanova, Jean-Laurent, Bhattacharya, Jahar, Liang, Alice F., Palermo, Laura M, Porotto, Matteo, Moscona, Anne, Snoeck, Hans-Willem
Publicado 2017

Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer

por Vincent, Quentin B., Belkadi, Aziz, Fayard, Cindy, Marion, Estelle, Adeye, Ambroise, Ardant, Marie-Françoise, Johnson, Christian R., Agossadou, Didier, Lorenzo, Lazaro, Guergnon, Julien, Bole-Feysot, Christine, Manry, Jeremy, Nitschké, Patrick, Theodorou, Ioannis, Casanova, Jean-Laurent, Marsollier, Laurent, Chauty, Annick, Abel, Laurent, Alcaïs, Alexandre
Publicado 2018

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing

por About, Frédégonde, Bibert, Stéphanie, Jouanguy, Emmanuelle, Nalpas, Bertrand, Lorenzo, Lazaro, Rattina, Vimel, Zarhrate, Mohammed, Hanein, Sylvain, Munteanu, Mona, Müllhaupt, Beat, Semela, David, Semmo, Nasser, Casanova, Jean-Laurent, Theodorou, Ioannis, Sultanik, Philippe, Poynard, Thierry, Pol, Stanislas, Bochud, Pierre-Yves, Cobat, Aurélie, Abel, Laurent
Publicado 2019

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

por Tangye, Stuart G., Al-Herz, Waleed, Bousfiha, Aziz, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M., Klein, Christoph, Morio, Tomohiro, Ochs, Hans D., Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Torgerson, Troy R., Casanova, Jean-Laurent, Sullivan, Kathleen E.
Publicado 2020

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

Partial human Janus kinase 1 deficiency predominantly impairs responses to interferon gamma and intracellular control of mycobacteria

por Daza-Cajigal, Vanessa, Albuquerque, Adriana S., Young, Dan F., Ciancanelli, Michael J., Moulding, Dale, Angulo, Ivan, Jeanne-Julien, Valentine, Rosain, Jérémie, Minskaia, Ekaterina, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Randall, Richard E., McHugh, Timothy D., Thrasher, Adrian J., Burns, Siobhan O.
Publicado 2022

First-in-human phase Ib trial of M9241 (NHS-IL12) plus avelumab in patients with advanced solid tumors, including dose expansion in patients with advanced urothelial carcinoma

por Strauss, Julius, Deville, Jean-Laurent, Sznol, Mario, Ravaud, Alain, Maruzzo, Marco, Pachynski, Russell K, Gourdin, Theodore S, Maio, Michele, Dirix, Luc, Schlom, Jeffrey, Donahue, Renee N, Tsai, Yo-Ting, Wang, XiaoZhe, Vugmeyster, Yulia, Beier, Frank, Seebeck, Joerg, Schroeder, Andreas, Chennoufi, Sarah, Gulley, James L
Publicado 2023

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia

por Launay, Nathalie, Ruiz, Montserrat, Planas-Serra, Laura, Verdura, Edgard, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Goicoechea, Leire, Guilera, Cristina, Casas, Josefina, Campelo, Felix, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Boespflug-Tanguy, Odile, Vazquez Cancela, Maria, Gutiérrez-Solana, Luis González, Casasnovas, Carlos, Area-Gomez, Estela, Pujol, Aurora
Publicado 2023

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis

por Partanen, Terhi, Chen, Jie, Lehtonen, Johanna, Kuismin, Outi, Rusanen, Harri, Vapalahti, Olli, Vaheri, Antti, Anttila, Veli-Jukka, Bode, Michaela, Hautala, Nina, Vuorinen, Tytti, Glumoff, Virpi, Kraatari, Minna, Åström, Pirjo, Saarela, Janna, Kauma, Heikki, Lorenzo, Lazaro, Casanova, Jean-Laurent, Zhang, Shen-Ying, Seppänen, Mikko, Hautala, Timo
Publicado 2020

Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β

por Vinh, Donald C., Abel, Laurent, Bastard, Paul, Cheng, Matthew P., Condino-Neto, Antonio, Gregersen, Peter K., Haerynck, Filomeen, Cicalese, Maria-Pia, Hagin, David, Soler-Palacín, Pere, Planas, Anna M., Pujol, Aurora, Notarangelo, Luigi D., Zhang, Qian, Su, Helen C., Casanova, Jean-Laurent, Meyts, Isabelle
Publicado 2021

X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia

por Abolhassani, Hassan, Vosughimotlagh, Ahmad, Asano, Takaki, Landegren, Nils, Boisson, Bertrand, Delavari, Samaneh, Bastard, Paul, Aranda-Guillén, Maribel, Wang, Yating, Zuo, Fanglei, Sardh, Fabian, Marcotte, Harold, Du, Likun, Zhang, Shen-Ying, Zhang, Qian, Rezaei, Nima, Kämpe, Olle, Casanova, Jean-Laurent, Hammarström, Lennart, Pan-Hammarström, Qiang
Publicado 2021