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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, Stephanie; Abel, Laurent; Casanova, Jean-Laurent; Patin, Etienne; Laval, Guillaume; Quintana-Murci, Lluis Share Save
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Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child Ogishi, Masato; Yang, Rui; Aytekin, Caner; Langlais, David; Bourgey, Mathieu; Khan, Taushif; Al Ali, Fatima; Rahman, Mahbuba; Delmonte, Ottavia M.; Chrabieh, Maya; Zhang, Peng; Gruber, Conor; Pelham, Simon J.; Spaan, Andras N.; Rosain, Jeremie; Lei, Wei-Te; Drutman, Scott; Hellmann, Matthew D.; Callahan, Margaret K.; Adamow, Matthew; Wong, Phillip; Wolchok, Jedd D.; Rao, Geetha; Ma, Cindy S.; Nakajima, Yuka; Yaguchi, Tomonori; Chamoto, Kenji; Williams, Samuel C.; Emile, Jean-Francois; Rozenberg, Flore; Glickman, Michael S.; Rapaport, Franck; Kerner, Gaspard; Allington, Garrett; Tezcan, Ilhan; Cagdas, Deniz; Hosnut, Ferda O.; Dogu, Figen; Ikinciogullari, Aydan; Rao, V. Koneti; Kainulainen, Leena; Beziat, Vivien; Bustamante, Jacinta; Vilarinho, Silvia; Lifton, Richard P.; Boisson, Bertrand; Abel, Laurent; Bogunovic, Dusan; Marr, Nico; Notarangelo, Luigi D.; Tangye, Stuart G.; Honjo, Tasuku; Gros, Philippe; Boisson-Dupuis, Stephanie; Casanova, Jean-Laurent Share Save
Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing Bigio, Benedetta; Seeleuthner, Yoann; Kerner, Gaspard; Migaud, Melanie; Rosain, Jeremie; Boisson, Bertrand; Nasca, Carla; Puel, Anne; Bustamante, Jacinta; Casanova, Jean-Laurent; Abel, Laurent; Cobat, Aurelie Share Save
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, Nguyen Trong; Danh, Nguyen Thanh; Vincent, Quentin B.; Jabot-Hanin, Fabienne; Seeleuthner, Yoann; Bustamante, Jacinta; Boisson-Dupuis, Stephanie; Huong, Nguyen Thu; Ba, Nguyen Ngoc; Casanova, Jean-Laurent; Delacourt, Christophe; Hoal, Eileen G.; Alcais, Alexandre; Thai, Vu Hong; Thanh, Lai The; Abel, Laurent; Schurr, Erwin; Cobat, Aurelie Share Save
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Inherited human IFN-γ deficiency underlies mycobacterial disease Kerner, Gaspard; Rosain, Jeremie; Guerin, Antoine; Al-Khabaz, Ahmad; Oleaga-Quintas, Carmen; Rapaport, Franck; Massaad, Michel J.; Ding, Jing-Ya; Khan, Taushif; Al Ali, Fatima; Rahman, Mahbuba; Deswarte, Caroline; Martinez-Barricarte, Ruben; Geha, Raif S.; Jeanne-Julien, Valentine; Garcia, Diane; Chi, Chih-Yu; Yang, Rui; Roynard, Manon; Fleckenstein, Bernhard; Rozenberg, Flore; Boisson-Dupuis, Stephanie; Ku, Cheng-Lung; Seeleuthner, Yoann; Beziat, Vivien; Marr, Nico; Abel, Laurent; Al-Herz, Waleed; Casanova, Jean-Laurent; Bustamante, Jacinta Share Save
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
Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry Kerner, Gaspard; Ramirez-Alejo, Noe; Seeleuthner, Yoann; Yang, Rui; Ogishi, Masato; Cobat, Aurelie; Patin, Etienne; Quintana-Murci, Lluis; Boisson-Dupuis, Stephanie; Casanova, Jean-Laurent; Abel, Laurent 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
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23 Martinez-Barricarte, Ruben; Markle, Janet G.; Ma, Cindy S.; Deenick, Elissa K.; Ramirez-Alejo, Noe; Mele, Federico; Latorre, Daniela; Mandaviani, Seyed Alireza; Aytekin, Caner; Mansouri, Davood; Bryant, Vanessa L.; Jabot-Hanin, Fabienne; Deswarte, Caroline; Nieto-Patlan, Alejandro; Surace, Laura; Kerner, Gaspard; Itan, Yuval; Jovic, Sandra; Avery, Danielle T.; Wong, Natalie; Rao, Geetha; Patin, Etienne; Okada, Satoshi; Bigio, Benedetta; Boisson, Bertrand; Rapaport, Franck; Seeleuthner, Yoann; Schmidt, Monika; Ikinciogullari, Aydan; Dogu, Figen; Tanir, Gonul; Tabarsi, Payam; Bloursaz, Mohammed Reza; Josephs, Julia K.; Heer, Avneet; Kong, Xiao-Fei; Migaud, Melanie; Lazarov, Tomi; Geissmann, Frederic; Fleckenstein, Bernhard; Arlehamn, Cecilia Lindestam; Sette, Alessandro; Puel, Anne; Emile, Jean-Francois; van de Vosse, Esther; Quintana-Murci, Lluis; Di Santo, James P.; Abel, Laurent; Boisson-Dupuis, Stephanie; Bustamante, Jacinta; Tangye, Stuart G.; Sallusto, Federica; Casanova, Jean-Laurent Share Save
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency Rosain, Jeremie; Oleaga-Quintas, Carmen; Deswarte, Caroline; Verdin, Hannah; Marot, Stephane; Syridou, Garyfallia; Mansouri, Mahboubeh; Mahdaviani, S. Alireza; Venegas-Montoya, Edna; Tsolia, Maria; Mesdaghi, Mehrnaz; Chernyshova, Liudmyla; Stepanovskiy, Yuriy; Parvaneh, Nima; Mansouri, Davood; Pedraza-Sanchez, Sigifredo; Bondarenko, Anastasia; Espinosa-Padilla, Sara E.; Yamazaki-Nakashimada, Marco A.; Nieto-Patlan, Alejandro; Kerner, Gaspard; Lambert, Nathalie; Jacques, Corinne; Corvilain, Emilie; Migaud, Melanie; Grandin, Virginie; Herrera, Maria T.; Jabot-Hanin, Fabienne; Boisson-Dupuis, Stephanie; Picard, Capucine; Nitschke, Patrick; Puel, Anne; Tores, Frederic; Abel, Laurent; Blancas-Galicia, Lizbeth; De Baere, Elfride; Bole-Feysot, Christine; Casanova, Jean-Laurent; Bustamante, Jacinta Share Save
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