ISG15: leading a double life as a secreted molecule

por Bogunovic, Dusan, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent
Publicado 2013

Septins Regulate Bacterial Entry into Host Cells

por Mostowy, Serge, Nam Tham, To, Danckaert, Anne, Guadagnini, Stéphanie, Boisson-Dupuis, Stéphanie, Pizarro-Cerdá, Javier, Cossart, Pascale
Publicado 2009

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

por Boisson-Dupuis, Stephanie, Kong, Xiao-Fei, Okada, Satoshi, Cypowyj, Sophie, Puel, Anne, Abel, Laurent, Casanova, Jean-Laurent
Publicado 2012

Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years

por Kerner, Gaspard, Laval, Guillaume, Patin, Etienne, Boisson-Dupuis, Stéphanie, Abel, Laurent, Casanova, Jean-Laurent, Quintana-Murci, Lluis
Publicado 2021

Mendelian Susceptibility to Mycobacterial Disease in Egyptian Children

por Galal, Nermeen, Boutros, Jeannette, Marsafy, Aisha, Kong, Xiao-Fei, Feinberg, Jacqueline, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta
Publicado 2012

Treatment of Disseminated Mycobacterial Infection with High-Dose IFN-γ in a Patient with IL-12Rβ1 Deficiency

por Alangari, Abdullah A., Al-Zamil, Fahad, Al-Mazrou, Abdulrahman, Al-Muhsen, Saleh, Boisson-Dupuis, Stéphanie, Awadallah, Sitalbanat, Kambal, Abdelmageed, Casanova, Jean-Laurent
Publicado 2011

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

por Itan, Yuval, Mazel, Mark, Mazel, Benjamin, Abhyankar, Avinash, Nitschke, Patrick, Quintana-Murci, Lluis, Boisson-Dupuis, Stephanie, Boisson, Bertrand, Abel, Laurent, Zhang, Shen-Ying, Casanova, Jean-Laurent
Publicado 2014

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

por Kong, Xiao-Fei, Bousfiha, Aziz, Rouissi, Abdelfettah, Itan, Yuval, Abhyankar, Avinash, Bryant, Vanessa, Okada, Satoshi, Ailal, Fatima, Bustamante, Jacinta, Casanova, Jean-Laurent, Hirst, Jennifer, Boisson-Dupuis, Stéphanie
Publicado 2013

Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency

por Korol, Cecilia B., Belkaya, Serkan, Alsohime, Fahad, Lorenzo, Lazaro, Boisson-Dupuis, Stéphanie, Brancale, Joseph, Neehus, Anna-Lena, Vilarinho, Silvia, Zobaida, Alsum, Halwani, Rabih, Al-Muhsen, Saleh, Casanova, Jean-Laurent, Jouanguy, Emmanuelle
Publicado 2022

Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe

por Kerner, Gaspard, Neehus, Anna-Lena, Philippot, Quentin, Bohlen, Jonathan, Rinchai, Darawan, Kerrouche, Nacim, Puel, Anne, Zhang, Shen-Ying, Boisson-Dupuis, Stéphanie, Abel, Laurent, Casanova, Jean-Laurent, Patin, Etienne, Laval, Guillaume, Quintana-Murci, Lluis
Publicado 2023

Tuberculin Skin Test Negativity Is Under Tight Genetic Control of Chromosomal Region 11p14-15 in Settings With Different Tuberculosis Endemicities

por Cobat, Aurélie, Poirier, Christine, Hoal, Eileen, Boland-Auge, Anne, de La Rocque, France, Corrard, François, Grange, Ghislain, Migaud, Mélanie, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Schurr, Erwin, Alcaïs, Alexandre, Delacourt, Christophe, Abel, Laurent
Publicado 2015

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1

por Pedraza-Sánchez, Sigifredo, Lezana-Fernández, Jose Luis, Gonzalez, Yolanda, Martínez-Robles, Luis, Ventura-Ayala, María Laura, Sadowinski-Pine, Stanislaw, Nava-Frías, Margarita, Moreno-Espinosa, Sarbelio, Casanova, Jean-Laurent, Puel, Anne, Boisson-Dupuis, Stephanie, Torres, Martha
Publicado 2017

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

por Vogt, Guillaume, Bustamante, Jacinta, Chapgier, Ariane, Feinberg, Jacqueline, Boisson Dupuis, Stephanie, Picard, Capucine, Mahlaoui, Nizar, Gineau, Laure, Alcaïs, Alexandre, Lamaze, Christophe, Puck, Jennifer M., de Saint Basile, Geneviève, Khayat, Claudia Djambas, Mikhael, Raymond, Casanova, Jean-Laurent
Publicado 2008

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

por Jabot-Hanin, Fabienne, Cobat, Aurélie, Feinberg, Jacqueline, Orlova, Marianna, Niay, Jonathan, Deswarte, Caroline, Poirier, Christine, Theodorou, Ioannis, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Alcaïs, Alexandre, Hoal, Eileen G., Delacourt, Christophe, Schurr, Erwin, Abel, Laurent
Publicado 2017

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populat...

por Jabot-Hanin, Fabienne, Cobat, Aurélie, Feinberg, Jacqueline, Grange, Ghislain, Remus, Natascha, Poirier, Christine, Boland-Auge, Anne, Besse, Céline, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Schurr, Erwin, Alcaïs, Alexandre, Hoal, Eileen G., Delacourt, Christophe, Abel, Laurent
Publicado 2016

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway

por Haake, Kathrin, Neehus, Anna-Lena, Buchegger, Theresa, Kühnel, Mark Philipp, Blank, Patrick, Philipp, Friederike, Oleaga-Quintas, Carmen, Schulz, Ansgar, Grimley, Michael, Goethe, Ralph, Jonigk, Danny, Kalinke, Ulrich, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta, Lachmann, Nico
Publicado 2020

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

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites

por Zhang, Peng, Chaldebas, Matthieu, Ogishi, Masato, Al Qureshah, Fahd, Ponsin, Khoren, Feng, Yi, Rinchai, Darawan, Milisavljevic, Baptiste, Han, Ji Eun, Moncada-Vélez, Marcela, Keles, Sevgi, Schröder, Bernd, Stenson, Peter D., Cooper, David N., Cobat, Aurélie, Boisson, Bertrand, Zhang, Qian, Boisson-Dupuis, Stéphanie, Abel, Laurent, Casanova, Jean-Laurent
Publicado 2023

Association Study of Genes Controlling IL-12-dependent IFN-γ Immunity: STAT4 Alleles Increase Risk of Pulmonary Tuberculosis in Morocco

por Sabri, Ayoub, Grant, Audrey V., Cosker, Kristel, El Azbaoui, Safa, Abid, Ahmed, Abderrahmani Rhorfi, Ismail, Souhi, Hicham, Janah, Hicham, Alaoui-Tahiri, Kebir, Gharbaoui, Yasser, Benkirane, Majid, Orlova, Marianna, Boland, Anne, Deswarte, Caroline, Migaud, Melanie, Bustamante, Jacinta, Schurr, Erwin, Boisson-Dupuis, Stephanie, Casanova, Jean-Laurent, Abel, Laurent, El Baghdadi, Jamila
Publicado 2014

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

por Louvain de Souza, Thais, de Souza Campos Fernandes, Regina C., Azevedo da Silva, Juliana, Gomes Alves Júnior, Vladimir, Gomes Coelho, Adelia, Souza Faria, Afonso C., Moreira Salomão Simão, Nabia M., Souto Filho, João T., Deswarte, Caroline, Boisson-Dupuis, Stéphanie, Torgerson, Dara, Casanova, Jean-Laurent, Bustamante, Jacinta, Medina-Acosta, Enrique
Publicado 2017