Not logged in 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, Jeremie; Minskaia, Ekaterina; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie; Bustamante, Jacinta; Randall, Richard E.; McHugh, Timothy D.; Thrasher, Adrian J.; Burns, Siobhan O. Share Save
TLR3 controls constitutive IFN-β antiviral immunity in human fibroblasts and cortical neurons Gao, Daxing; Ciancanelli, Michael J.; Zhang, Peng; Harschnitz, Oliver; Bondet, Vincent; Hasek, Mary; Chen, Jie; Mu, Xin; Itan, Yuval; Cobat, Aurelie; Sancho-Shimizu, Vanessa; Bigio, Benedetta; Lorenzo, Lazaro; Ciceri, Gabriele; McAlpine, Jessica; Anguiano, Esperanza; Jouanguy, Emmanuelle; Chaussabel, Damien; Meyts, Isabelle; Diamond, Michael S.; Abel, Laurent; Hur, Sun; Smith, Gregory A.; Notarangelo, Luigi; Duffy, Darragh; Studer, Lorenz; Casanova, Jean-Laurent; Zhang, Shen-Ying Share Save
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Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis Lafaille, Fabien G.; Harschnitz, Oliver; Lee, Yoon Seung; Zhang, Peng; Hasek, Mary L.; Kerner, Gaspard; Itan, Yuval; Ewaleifoh, Osefame; Rapaport, Franck; Carlile, Thomas M.; Carter-Timofte, Madalina E.; Paquet, Dominik; Dobbs, Kerry; Zimmer, Bastian; Gao, Daxing; Rojas-Duran, Maria F.; Kwart, Dylan; Rattina, Vimel; Ciancanelli, Michael J.; McAlpine, Jessica L.; Lorenzo, Lazaro; Boucherit, Soraya; Rozenberg, Flore; Halwani, Rabih; Henry, Benoit; Amenzoui, Naima; Alsum, Zobaida; Marques, Laura; Church, Joseph A.; Al-Muhsen, Saleh; Tardieu, Marc; Bousfiha, Ahmed Aziz; Paludan, Soren R.; Mogensen, Trine Hyrup; Quintana-Murci, Lluis; Tessier-Lavigne, Marc; Smith, Gregory A.; Notarangelo, Luigi D.; Studer, Lorenz; Gilbert, Wendy; Abel, Laurent; Casanova, Jean-Laurent; Zhang, Shen-Ying Share Save
Severe influenza pneumonitis in children with inherited TLR3 deficiency Lim, Hye Kyung; Huang, Sarah X. L.; Chen, Jie; Kerner, Gaspard; Gilliaux, Olivier; Bastard, Paul; Dobbs, Kerry; Hernandez, Nicholas; Goudin, Nicolas; Hasek, Mary L.; Reino, Eduardo Javier Garcia; Lafaille, Fabien G.; Lorenzo, Lazaro; Luthra, Priya; Kochetkov, Tatiana; Bigio, Benedetta; Boucherit, Soraya; Rozenberg, Flore; Vedrinne, Catherine; Keller, Michael D.; Itan, Yuval; Garcia-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 Share Save
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant Boisson-Dupuis, Stephanie; Ramirez-Alejo, Noe; Li, Zhi; Patin, Etienne; Rao, Geetha; Kerner, Gaspard; Lim, Che Kang; Krementsov, Dimitry N.; Hernandez, Nicholas; Ma, Cindy S.; Zhang, Qian; Markle, Janet; Martinez-Barricarte, Ruben; Payne, Kathryn; Fisch, Robert; Deswarte, Caroline; Halpern, Joshua; Bouaziz, Matthieu; Mulwa, Jeanette; Sivanesan, Durga; Lazarov, Tomi; Naves, Rodrigo; Garcia, Patricia; Itan, Yuval; Boisson, Bertrand; Checchi, Alix; Jabot-Hanin, Fabienne; Cobat, Aurelie; Guennoun, Andrea; Jackson, Carolyn C.; Pekcan, Sevgi; Caliskaner, Zafer; Inostroza, Jaime; Costa-Carvalho, Beatriz Tavares; Tavares de Albuquerque, Jose Antonio; Garcia-Ortiz, Humberto; Orozco, Lorena; Ozcelik, Tayfun; Abid, Ahmed; Rhorfi, Ismail Abderahmani; Souhi, Hicham; Amrani, Hicham Naji; Zegmout, Adil; Geissmann, Frederic; Michnick, Stephen W.; Muller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Puel, Anne; Ciancanelli, Michael J.; Marr, Nico; Abolhassani, Hassan; Elvira Balcells, Maria; Condino-Neto, Antonio; Strickler, Alexis; Abarca, Katia; Teuscher, Cory; Ochs, Hans D.; Reisli, Ismail; Sayar, Esra H.; El-Baghdadi, Jamila; Bustamante, Jacinta; Hammarstrom, Lennart; Tangye, Stuart G.; Pellegrini, Sandra; Quintana-Murci, Lluis; Abel, Laurent; Casanova, Jean-Laurent Share Save
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency 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, Stephane; Lebras, Marie-Noelle; 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 Share Save
Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency Sologuren, Ithaisa; Teresa Martinez-Saavedra, Maria; Sole-Violan, Jordi; de Oliveira, Edgar de Borges, Jr.; Betancor, Eva; Casas, Inmaculada; Oleaga-Quintas, Carmen; Martinez-Gallo, Monica; Zhang, Shen-Ying; Pestano, Jose; Colobran, Roger; Herrera-Ramos, Estefania; Perez, Carmen; Lopez-Rodriguez, Marta; Juan Ruiz-Hernandez, Jose; Franco, Nieves; Maria Ferrer, Jose; Bilbao, Cristina; Andujar-Sanchez, Miguel; Alvarez Fernandez, Mercedes; Ciancanelli, Michael J.; Rodriguez de Castro, Felipe; Casanova, Jean-Laurent; Bustamante, Jacinta; Rodriguez-Gallego, Carlos Share Save
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency Lamborn, Ian T.; Jing, Huie; Zhang, Yu; Drutman, Scott B.; Abbott, Jordan K.; Munir, Shirin; Bade, Sangeeta; Murdock, Heardley M.; Santos, Celia P.; Brock, Linda G.; Masutani, Evan; Fordjour, Emmanuel Y.; McElwee, Joshua J.; Hughes, Jason D.; Nichols, Dave P.; Belkadi, Aziz; Oler, Andrew J.; Happel, Corinne S.; Matthews, Helen F.; Abel, Laurent; Collins, Peter L.; Subbarao, Kanta; Gelfand, Erwin W.; Ciancanelli, Michael J.; Casanova, Jean-Laurent; Su, Helen C. Share Save
A novel kindred with inherited STAT2 deficiency and severe viral illness Moens, Leen; Van Eyck, Lien; Jochmans, Dirk; Mitera, Tania; Frans, Glynis; Bossuyt, Xavier; Matthys, Patrick; Neyts, Johan; Ciancanelli, Michael; Zhang, Shen-Ying; Gijsbers, Rik; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie; Meyts, Isabelle; Liston, Adrian Share Save
A three-dimensional model of human lung development and disease from pluripotent stem cells Chen, Ya-Wen; Huang, Sarah Xuelian; Rodrigues Toste de Carvalho, Ana Luisa; 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 Share Save
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The mutation significance cutoff: gene-level thresholds for variant predictions Itan, Yuval; Shang, Lei; Boisson, Bertrand; Ciancanelli, Michael J.; Markle, Janet G.; Martinez-Barricarte, Ruben; Scott, Eric; Shah, Ishaan; Stenson, Peter D.; Gleeson, Joseph; Cooper, David N.; Quintana-Murci, Lluis; Zhang, Shen-Ying; Abel, Laurent; Casanova, Jean-Laurent Share Save
The human gene damage index as a gene-level approach to prioritizing exome variants Itan, Yuval; Shang, Lei; Boisson, Bertrand; Patin, Etienne; Bolze, Alexandre; Moncada-Velez, Marcela; Scott, Eric; Ciancanelli, Michael J.; Lafaille, Fabien G.; Markle, Janet G.; Martinez-Barricarte, Ruben; de Jong, Sarah Jill; Kong, Xiao-Fei; Nitschke, Patrick; Belkadi, Aziz; Bustamante, Jacinta; Puel, Anne; Boisson-Dupuis, Stephanie; Stenson, Peter D.; Gleeson, Joseph G.; Cooper, David N.; Quintana-Murci, Lluis; Claverie, Jean-Michel; Zhang, Shen-Ying; Abel, Laurent; Casanova, Jean-Laurent Share Save
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome Kreins, Alexandra Y.; Ciancanelli, Michael J.; Okada, Satoshi; Kong, Xiao-Fei; Ramirez-Alejo, Noe; Kilic, Sara Sebnem; El Baghdadi, Jamila; Nonoyama, Shigeaki; Mahdaviani, Seyed Alireza; Ailal, Fatima; Bousfiha, Aziz; Mansouri, Davood; Nievas, Elma; Ma, Cindy S.; Rao, Geetha; Bernasconi, Andrea; Kuehn, Hye Sun; Niemela, Julie; Stoddard, Jennifer; Deveau, Paul; Cobat, Aurelie; El Azbaoui, Safa; Sabri, Ayoub; Lim, Che Kang; Sundin, Mikael; Avery, Danielle T.; Halwani, Rabih; Grant, Audrey V.; Boisson, Bertrand; Bogunovic, Dusan; Itan, Yuval; Moncada-Velez, Marcela; Martinez-Barricarte, Ruben; Migaud, Melanie; Deswarte, Caroline; Alsina, Laia; Kotlarz, Daniel; Klein, Christoph; Muller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Cormier-Daire, Valerie; Rose-John, Stefan; Picard, Capucine; Hammarstrom, Lennart; Puel, Anne; Al-Muhsen, Saleh; Abel, Laurent; Chaussabel, Damien; Rosenzweig, Sergio D.; Minegishi, Yoshiyuki; Tangye, Stuart G.; Bustamante, Jacinta; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie Share Save
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TLR3 deficiency in herpes simplex encephalitis High allelic heterogeneity and recurrence risk Lim, Hye Kyung; Seppanen, Mikko; Hautala, Timo; Ciancanelli, Michael J.; Itan, Yuval; Lafaille, Fabien G.; Dell, William; Lorenzo, Lazaro; Byun, Minji; Pauwels, Elodie; Ronnelid, Ylva; Cai, Xin; Boucherit, Soraya; Jouanguy, Emmanuelle; Paetau, Anders; Lebon, Pierre; Rozenberg, Flore; Tardieu, Marc; Abel, Laurent; Yildiran, Alisan; Vergison, Anne; Roivainen, Reina; Etzioni, Amos; Tienari, Pentti J.; Casanova, Jean-Laurent; Zhang, Shen-Ying Share Save
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Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood Herman, Melina; Ciancanelli, Michael; Ou, Yi-Hung; Lorenzo, Lazaro; Klaudel-Dreszler, Maja; Pauwels, Elodie; Sancho-Shimizu, Vanessa; de Diego, Rebeca Perez; Abhyankar, Avinash; Israelsson, Elisabeth; Guo, Yiqi; Cardon, Annabelle; Rozenberg, Flore; Lebon, Pierre; Tardieu, Marc; Heropolitanska-Pliszka, Edyta; Chaussabel, Damien; White, Michael A.; Abel, Laurent; Zhang, Shen-Ying; Casanova, Jean-Laurent Share Save
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency Sancho-Shimizu, Vanessa; de Diego, Rebeca Perez; Lorenzo, Lazaro; Halwani, Rabih; Alangari, Abdullah; Israelsson, Elisabeth; Fabrega, Sylvie; Cardon, Annabelle; Maluenda, Jerome; Tatematsu, Megumi; Mahvelati, Farhad; Herman, Melina; Ciancanelli, Michael; Guo, Yiqi; AlSum, Zobaida; Alkhamis, Nouf; Al-Makadma, Abdulkarim S.; Ghadiri, Ata; Boucherit, Soraya; Plancoulaine, Sabine; Picard, Capucine; Rozenberg, Flore; Tardieu, Marc; Lebon, Pierre; Jouanguy, Emmanuelle; Rezaei, Nima; Seya, Tsukasa; Matsumoto, Misako; Chaussabel, Damien; Puel, Anne; Zhang, Shen-Ying; Abel, Laurent; Al-Muhsen, Saleh; Casanova, Jean-Laurent Share Save
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