Search Results - "Dupuis, Stéphanie Boisson"

Mendelian susceptibility to mycobacterial disease: 2014–2018 update by 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

“…Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN‐γ immunity. Since 1996, disease‐causing mutations have been found in…”
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Induction of MxA Gene Expression by Influenza A Virus Requires Type I or Type III Interferon Signaling by HOLZINGER, Dirk, JORNS, Carl, STERTZ, Silke, BOISSON-DUPUIS, Stéphanie, THIMME, Robert, WEIDMANN, Manfred, CASANOVA, Jean-Laurent, HALLER, Otto, KOCHS, Georg

“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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IRF8 Mutations and Human Dendritic-Cell Immunodeficiency by 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

“…Monocytes and dendritic cells regulate adaptive and innate immunity. This study uncovers an association between mutations in the gene encoding interferon…”
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Inborn Errors of Immunity—the Sri Lankan Experience 2010–2022 by 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

“…Purpose Inborn errors of immunity (IEI) are typically monogenic. Data from the Indian subcontinent are relatively scarce. This paper evaluates IEI diagnosed in…”
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Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance by 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

“…Genetic variants underlying life-threatening diseases, being unlikely to be transmitted to the next generation, are gradually and selectively eliminated from…”
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Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases by Bustamante, Jacinta, Picard, Capucine, Boisson-Dupuis, Stéphanie, Abel, Laurent, Casanova, Jean-Laurent

“…Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome conferring predisposition to clinical disease caused by weakly virulent…”
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Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency by 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

“…A 51-year-old Iranian man presented with severe CMV infection, which proved to be fatal over the next 29 months. Investigation determined that he had a…”
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Multibatch Cytometry Data Integration for Optimal Immunophenotyping by 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

“…High-dimensional cytometry is a powerful technique for deciphering the immunopathological factors common to multiple individuals. However, rational comparisons…”
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Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome by 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

“…Down syndrome (DS) is characterized by the occurrence of three copies of human chromosome 21 (HSA21). HSA21 contains a cluster of four interferon receptor…”
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A partial form of recessive STAT1 deficiency in humans by 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

“…Complete STAT1 deficiency is an autosomal recessive primary immunodeficiency caused by null mutations that abolish STAT1-dependent cellular responses to both…”
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Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco by 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

“…Increased prevalence of latent tuberculosis infection (LTBI) has been observed among high-risk populations such as healthcare workers (HCWs). The results may…”
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Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe by 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

“…Ancient genomics can directly detect human genetic adaptation to environmental cues. However, it remains unclear how pathogens have exerted selective pressures…”
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Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations by 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

“…The natural history of tuberculosis (TB) is characterized by a large inter-individual outcome variability after exposure to Mycobacterium tuberculosis…”
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Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients by 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

“…Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare congenital condition characterized by a selective predisposition to infections caused by…”
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Partial human Janus kinase 1 deficiency predominantly impairs responses to interferon gamma and intracellular control of mycobacteria by 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

“…Janus kinase-1 (JAK1) tyrosine kinase mediates signaling from multiple cytokine receptors, including interferon alpha/beta and gamma (IFN-α/β and IFN-γ), which…”
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Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis by Hirata, Osamu, Okada, Satoshi, Tsumura, Miyuki, Kagawa, Reiko, Miki, Mizuka, Kawaguchi, Hiroshi, Nakamura, Kazuhiro, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Takihara, Yoshihiro, Kobayashi, Masao

“…Heterozygosity for dominant-negative STAT1 mutations underlies autosomal dominant Mendelian susceptibility to mycobacterial diseases. Mutations conferring…”
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Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease by 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

“…Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome, the known genetic etiologies of which impair the production of, or the response…”
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Septins regulate bacterial entry into host cells by Mostowy, Serge, Nam Tham, To, Danckaert, Anne, Guadagnini, Stéphanie, Boisson-Dupuis, Stéphanie, Pizarro-Cerdá, Javier, Cossart, Pascale

“…Septins are conserved GTPases that form filaments and are required in many organisms for several processes including cytokinesis. We previously identified…”
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Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease by 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

“…The transcription factor signal transducer and activator of transcription-1 (STAT1) plays a key role in immunity against mycobacterial and viral infections…”
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Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway by 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

“…Interferon γ (IFN-γ) was shown to be a macrophage activating factor already in 1984. Consistently, inborn errors of IFN-γ immunity underlie Mendelian…”
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