Mendelian susceptibility to mycobacterial disease: 2014-2018 update
Rosain, Jérémie, Kong, Xiao-Fei, Martinez-Barricarte, Ruben, Oleaga-Quintas, Carmen, Ramirez-Alejo, Noé, Markle, Janet, Okada, Satoshi, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta
Published in Immunology and cell biology (01.04.2019)
Published in Immunology and cell biology (01.04.2019)
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Journal Article
Induction of MxA Gene Expression by Influenza A Virus Requires Type I or Type III Interferon Signaling
HOLZINGER, Dirk, JORNS, Carl, STERTZ, Silke, BOISSON-DUPUIS, Stéphanie, THIMME, Robert, WEIDMANN, Manfred, CASANOVA, Jean-Laurent, HALLER, Otto, KOCHS, Georg
Published in Journal of Virology (01.07.2007)
Published in Journal of Virology (01.07.2007)
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Journal Article
IRF8 Mutations and Human Dendritic-Cell Immunodeficiency
Hambleton, Sophie, Salem, Sandra, Bustamante, Jacinta, Bigley, Venetia, Boisson-Dupuis, Stéphanie, Azevedo, Joana, Fortin, Anny, Haniffa, Muzlifah, Ceron-Gutierrez, Lourdes, Bacon, Chris M, Menon, Geetha, Trouillet, Céline, McDonald, David, Carey, Peter, Ginhoux, Florent, Alsina, Laia, Zumwalt, Timothy J, Kong, Xiao-Fei, Kumararatne, Dinakantha, Butler, Karina, Hubeau, Marjorie, Feinberg, Jacqueline, Al-Muhsen, Saleh, Cant, Andrew, Abel, Laurent, Chaussabel, Damien, Doffinger, Rainer, Talesnik, Eduardo, Grumach, Anete, Duarte, Alberto, Abarca, Katia, Moraes-Vasconcelos, Dewton, Burk, David, Berghuis, Albert, Geissmann, Frédéric, Collin, Matthew, Casanova, Jean-Laurent, Gros, Philippe
Published in The New England journal of medicine (14.07.2011)
Published in The New England journal of medicine (14.07.2011)
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Journal Article
Inborn Errors of Immunity—the Sri Lankan Experience 2010–2022
Dasanayake, Dhanushka, Bustamante, Jacinta, Boisson–Dupuis, Stéphanie, Karunatilleke, Chandima, Thambyrajah, James, Puel, Anne, Chan, Koon Wing, Doffinger, Rainer, Lau, Yu-Lung, Casanova, Jean-Laurent, Kumararatne, Dinakantha, de Silva, Rajiva
Published in Journal of clinical immunology (01.11.2023)
Published in Journal of clinical immunology (01.11.2023)
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Journal Article
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance
Rapaport, Franck, Boisson, Bertrand, Gregor, Anne, Béziat, Vivien, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Jouanguy, Emmanuelle, Puel, Anne, Rosain, Jérémie, Zhang, Qian, Zhang, Shen-Ying, Gleeson, Joseph G., Quintana-Murci, Lluis, Casanova, Jean-Laurent, Abel, Laurent, Patin, Etienne
Published in Proceedings of the National Academy of Sciences - PNAS (19.01.2021)
Published in Proceedings of the National Academy of Sciences - PNAS (19.01.2021)
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Journal Article
Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency
Drutman, Scott B, Mansouri, Davood, Mahdaviani, Seyed Alireza, Neehus, Anna-Lena, Hum, David, Bryk, Ruslana, Hernandez, Nicholas, Belkaya, Serkan, Rapaport, Franck, Bigio, Benedetta, Fisch, Robert, Rahman, Mahbuba, Khan, Taushif, Al Ali, Fatima, Marjani, Majid, Mansouri, Nahal, Lorenzo-Diaz, Lazaro, Emile, Jean-François, Marr, Nico, Jouanguy, Emmanuelle, Bustamante, Jacinta, Abel, Laurent, Boisson-Dupuis, Stéphanie, Béziat, Vivien, Nathan, Carl, Casanova, Jean-Laurent
Published in The New England journal of medicine (30.01.2020)
Published in The New England journal of medicine (30.01.2020)
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Journal Article
Multibatch Cytometry Data Integration for Optimal Immunophenotyping
Ogishi, Masato, Yang, Rui, Gruber, Conor, Zhang, Peng, Pelham, Simon J, Spaan, András N, Rosain, Jérémie, Chbihi, Marwa, Han, Ji Eun, Rao, V Koneti, Kainulainen, Leena, Bustamante, Jacinta, Boisson, Bertrand, Bogunovic, Dusan, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent
Published in The Journal of immunology (1950) (01.01.2021)
Published in The Journal of immunology (1950) (01.01.2021)
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Journal Article
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome
Kong, Xiao-Fei, Worley, Lisa, Rinchai, Darawan, Bondet, Vincent, Jithesh, Puthen Veettil, Goulet, Marie, Nonnotte, Emilie, Rebillat, Anne Sophie, Conte, Martine, Mircher, Clotilde, Gürtler, Nicolas, Liu, Luyan, Migaud, Mélanie, Elanbari, Mohammed, Habib, Tanwir, Ma, Cindy S., Bustamante, Jacinta, Abel, Laurent, Ravel, Aimé, Lyonnet, Stanislas, Munnich, Arnold, Duffy, Darragh, Chaussabel, Damien, Casanova, Jean-Laurent, Tangye, Stuart G, Boisson-Dupuis, Stéphanie, Puel, Anne
Published in Journal of clinical immunology (01.08.2020)
Published in Journal of clinical immunology (01.08.2020)
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Journal Article
A partial form of recessive STAT1 deficiency in humans
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
Published in The Journal of clinical investigation (01.06.2009)
Published in The Journal of clinical investigation (01.06.2009)
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Journal Article
Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco
Sabri, Ayoub, Quistrebert, Jocelyn, Naji Amrani, Hicham, Abid, Ahmed, Zegmout, Adil, Abderrhamani Ghorfi, Ismail, Souhi, Hicham, Boucaid, Abdelhalim, Benali, Anas, Abilkassem, Rachid, Kmari, Mohamed, Hassani, Amal, Lahcen, Belyamani, Siah, Samir, Schurr, Erwin, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Lahlou, Amine, Laatiris, Abdelkader, Louzi, Lhoussain, Ouarssani, Aziz, Bourazza, Ahmed, Aouragh, Aziz, Mustapha, Bensghir, Messaoudi, Nezha, Agader, Aomar, Cobat, Aurélie, Abel, Laurent, El Baghdadi, Jamila
Published in PloS one (15.08.2019)
Published in PloS one (15.08.2019)
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Journal Article
Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe
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
Published in Cell genomics (08.02.2023)
Published in Cell genomics (08.02.2023)
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Journal Article
Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations
Quistrebert, Jocelyn, Orlova, Marianna, Kerner, Gaspard, Ton, Le Thi, Luong, Nguyễn Trong, Danh, Nguyễn Thanh, Vincent, Quentin B, Jabot-Hanin, Fabienne, Seeleuthner, Yoann, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Huong, Nguyen Thu, Ba, Nguyen Ngoc, Casanova, Jean-Laurent, Delacourt, Christophe, Hoal, Eileen G, Alcaïs, Alexandre, Thai, Vu Hong, Thành, Lai The, Abel, Laurent, Schurr, Erwin, Cobat, Aurélie
Published in PLoS genetics (04.03.2021)
Published in PLoS genetics (04.03.2021)
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Journal Article
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients
Mahdaviani, Seyed Alireza, Mansouri, Davood, Jamee, Mahnaz, Zaki-Dizaji, Majid, Aghdam, Karim Rahimi, Mortaz, Esmail, Khorasanizadeh, MirHojjat, Eskian, Mahsa, Movahedi, Mahshid, Ghaffaripour, Hosseinali, Baghaie, Nooshin, Hassanzad, Maryam, Chavoshzadeh, Zahra, Mansouri, Mahboubeh, Mesdaghi, Mehrnaz, Ghaini, Mehdi, Noori, Farzad, Eskandarzadeh, Shabnam, Kahkooi, Shahram, Poorabdolah, Mihan, Tabarsi, Payam, Moniri, Afshin, Farnia, Parisa, Karimi, Abdollah, Boisson-Dupuis, Stéphanie, Rezaei, Nima, Marjani, Majid, Casanova, Jean-Laurent, Bustamante, Jacinta, Velayati, Ali Akbar
Published in Journal of clinical immunology (01.08.2020)
Published in Journal of clinical immunology (01.08.2020)
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Journal Article
Partial human Janus kinase 1 deficiency predominantly impairs responses to interferon gamma and intracellular control of mycobacteria
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
Published in Frontiers in immunology (09.09.2022)
Published in Frontiers in immunology (09.09.2022)
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Journal Article
Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis
Hirata, Osamu, Okada, Satoshi, Tsumura, Miyuki, Kagawa, Reiko, Miki, Mizuka, Kawaguchi, Hiroshi, Nakamura, Kazuhiro, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Takihara, Yoshihiro, Kobayashi, Masao
Published in Haematologica (Roma) (01.10.2013)
Published in Haematologica (Roma) (01.10.2013)
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Journal Article
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease
Kong, Xiao-Fei, Vogt, Guillaume, Itan, Yuval, Macura-Biegun, Anna, Szaflarska, Anna, Kowalczyk, Danuta, Chapgier, Ariane, Abhyankar, Avinash, Furthner, Dieter, Djambas Khayat, Claudia, Okada, Satoshi, Bryant, Vanessa L, Bogunovic, Dusan, Kreins, Alexandra, Moncada-Vélez, Marcela, Migaud, Mélanie, Al-Ajaji, Sulaiman, Al-Muhsen, Saleh, Holland, Steven M, Abel, Laurent, Picard, Capucine, Chaussabel, Damien, Bustamante, Jacinta, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie
Published in Human molecular genetics (15.02.2013)
Published in Human molecular genetics (15.02.2013)
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Journal Article
Septins regulate bacterial entry into host cells
Mostowy, Serge, Nam Tham, To, Danckaert, Anne, Guadagnini, Stéphanie, Boisson-Dupuis, Stéphanie, Pizarro-Cerdá, Javier, Cossart, Pascale
Published in PloS one (15.01.2009)
Published in PloS one (15.01.2009)
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Journal Article
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease
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
Published in PLoS genetics (01.08.2006)
Published in PLoS genetics (01.08.2006)
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Journal Article
Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway
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
Published in Cells (Basel, Switzerland) (19.02.2020)
Published in Cells (Basel, Switzerland) (19.02.2020)
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