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Inherited human RelB deficiency impairs innate and adaptive immunity to infection Le Voyer, Tom; Renkilaraj, Majistor Raj Luxman Maglorius; Moriya, Kunihiko; Lorenzo, Malena Perez; Nguyen, Tina; Gao, Liwei; Rubin, Tamar; Cederholm, Axel; Ogishi, Masato; Franco, Carlos A. Arango-; Beziat, Vivien; Levy, Romain; Migaud, Melanie; Rapaport, Franck; Itan, Yuval; Deenick, Elissa K.; Cortese, Irene; Lisco, Andrea; Boztug, Kaan; Abel, Laurent; Boisson-Dupuis, Stephanie; Boisson, Bertrand; Frosk, Patrick; Ma, Cindy S.; Landegren, Nils; Celmeli, Fatih; Casanova, Jean- Laurent; Tangye, Stuart G.; Puel, Anne Share Save
Helper T cell immunity in humans with inherited CD4 deficiency Guerin, Antoine; Moncada-Velez, Marcela; Jackson, Katherine; Ogishi, Masato; Rosain, Jeremie; Mancini, Mathieu; Langlais, David; Nunez, Andrea; Webster, Samantha; Goyette, Jesse; Khan, Taushif; Marr, Nico; Avery, Danielle T.; Rao, Geetha; Waterboer, Tim; Michels, Birgitta; Neves, Esmeralda; Morais, Catia Iracema; London, Jonathan; Mestrallet, Stephanie; Maire, Pierre Quartier Dit; Neven, Benedicte; Rapaport, Franck; Seeleuthner, Yoann; Lev, Atar; Simon, Amos J.; Montoya, Jorge; Barel, Ortal; Gomez-Rodriguez, Julio; Orrego, Julio C.; L'Honneur, Anne-Sophie; Soudee, Camille; Rojas, Jessica; Velez, Alejandra C.; Sereti, Irini; Terrier, Benjamin; Marin, Nancy; Garcia, Luis F.; Abel, Laurent; Boisson-Dupuis, Stephanie; Reis, Joel; Marinho, Antonio; Lisco, Andrea; Faria, Emilia; Goodnow, Christopher C.; Vasconcelos, Julia; Beziat, Vivien; Ma, Cindy S.; Somech, Raz; Casanova, Jean-Laurent; Bustamante, Jacinta; Franco, Jose Luis; Tangye, Stuart G. Share Save
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency Levy, Romain; Gothe, Florian; Momenilandi, Mana; Magg, Thomas; Materna, Marie; Peters, Philipp; Raedler, Johannes; Philippot, Quentin; Rack-Hoch, Anita Lena; Langlais, David; Bourgey, Mathieu; Lanz, Anna-Lisa; Ogishi, Masato; Rosain, Jeremie; Martin, Emmanuel; Latour, Sylvain; Vladikine, Natasha; Distefano, Marco; Khan, Taushif; Rapaport, Franck; Schulz, Marian S.; Holzer, Ursula; Fasth, Anders; Sogkas, Georgios; Speckmann, Carsten; Troilo, Arianna; Bigley, Venetia; Roppelt, Anna; Dinur-Schejter, Yael; Toker, Ori; Martinsen, Karen Helene Bronken; Sherkat, Roya; Somekh, Ido; Somech, Raz; Shouval, Dror S.; Kuehl, Joern-Sven; Ip, Winnie; McDermott, Elizabeth M.; Cliffe, Lucy; Ozen, Ahmet; Baris, Safa; Rangarajan, Hemalatha G.; Jouanguy, Emmanuelle; Puel, Anne; Bustamante, Jacinta; Alyanakian, Marie-Alexandra; Fusaro, Mathieu; Wang, Yi; Kong, Xiao-Fei; Cobat, Aurelie; Boutboul, David; Castelle, Martin; Aguilar, Claire; Hermine, Olivier; Cheminant, Morgane; Suarez, Felipe; Yildiran, Alisan; Bousfiha, Aziz; Al-Mousa, Hamoud; Alsohime, Fahad; Cagdas, Deniz; Abraham, Roshini S.; Knutsen, Alan P.; Fevang, Borre; Bhattad, Sagar; Kiykim, Ayca; Erman, Baran; Arikoglu, Tugba; Unal, Ekrem; Kumar, Ashish; Geier, Christoph B.; Baumann, Ulrich; Neven, Benedicte; Rohlfs, Meino; Walz, Christoph; Abel, Laurent; Malissen, Bernard; Marr, Nico; Klein, Christoph; Casanova, Jean-Laurent; Hauck, Fabian; Beziat, Vivien Share Save
A SINGLE-CELL TRANSCRIPTOMIC ATLAS OF HUMAN NK CELLS TO GUIDE CANCER IMMUNOTHERAPY King, Ryan; Amirabad, Azim; Bayegan, Amir; Theilhaber, Joachim; Acuff, Nicole; McGrath, Shannon; Li, Xiangming; Rapaport, Franck; Pollard, Jack; Jackson, Donald Share Save
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency Li, Juan; Lei, Wei-Te; Zhang, Peng; Rapaport, Franck; Seeleuthner, Yoann; Lyu, Bingnan; Asano, Takaki; Rosain, Jeremie; Hammadi, Boualem; Zhang, Yu; Pelham, Simon J.; Spaan, Andras N.; Migaud, Melanie; Hum, David; Bigio, Benedetta; Chrabieh, Maya; Beziat, Vivien; Bustamante, Jacinta; Zhang, Shen-Ying; Jouanguy, Emmanuelle; Boisson-Dupuis, Stephanie; El Baghdadi, Jamila; Aimanianda, Vishukumar; Thoma, Katharina; Fliegauf, Manfred; Grimbacher, Bodo; Korganow, Anne-Sophie; Saunders, Carol; Rao, V. Koneti; Uzel, Gulbu; Freeman, Alexandra F.; Holland, Steven M.; Su, Helen C.; Cunningham-Rundles, Charlotte; Fieschi, Claire; Abel, Laurent; Puel, Anne; Cobat, Aurelie; Casanova, Jean-Laurent; Zhang, Qian; Boisson, Bertrand Share Save
Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents Levy, Romain; Langlais, David; Beziat, Vivien; Rapaport, Franck; Rao, Geetha; Lazarov, Tomi; Bourgey, Mathieu; Zhou, Yu J.; Briand, Coralie; Moriya, Kunihiko; Ailal, Fatima; Avery, Danielle T.; Markle, Janet; Lim, Ai Ing; Ogishi, Masato; Yang, Rui; Pelham, Simon; Emam, Mehdi; Migaud, Melanie; Deswarte, Caroline; Habib, Tanwir; Saraiva, Luis R.; Moussa, Eman A.; Guennoun, Andrea; Boisson, Bertrand; Belkaya, Serkan; Martinez-Barricarte, Ruben; Rosain, Jeremie; Belkadi, Aziz; Breton, Sylvain; Payne, Kathryn; Benhsaien, Ibtihal; Plebani, Alessandro; Lougaris, Vassilios; Di Santo, James P.; Neven, Benedicte; Abel, Laurent; Ma, Cindy S.; Bousfiha, Ahmed Aziz; Marr, Nico; Bustamante, Jacinta; Liu, Kang; Gros, Philippe; Geissmann, Frederic; Tangye, Stuart G.; Casanova, Jean-Laurent; Puel, Anne Share Save
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance Asano, Takaki; Khourieh, Joelle; Zhang, Peng; Rapaport, Franck; Spaan, Andras N.; Li, Juan; Lei, Wei-Te; Pelham, Simon J.; Hum, David; Chrabieh, Maya; Han, Ji Eun; Guerin, Antoine; Mackie, Joseph; Gupta, Sudhir; Saikia, Biman; Baghdadi, Jamila E., I; Fadil, Ilham; Bousfiha, Aziz; Habib, Tanwir; Marr, Nico; Ganeshanandan, Luckshman; Peake, Jane; Droney, Luke; Williams, Andrew; Celmeli, Fatih; Hatipoglu, Nevin; Ozcelik, Tayfun; Picard, Capucine; Abel, Laurent; Tangye, Stuart G.; Boisson-Dupuis, Stephanie; Zhang, Qian; Puel, Anne; Beziat, Vivien; Casanova, Jean-Laurent; Boisson, Bertrand Share Save
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; Beziat, Vivien; Boisson-Dupuis, Stephanie; Bustamante, Jacinta; Jouanguy, Emmanuelle; Puel, Anne; Rosain, Jeremie; Zhang, Qian; Zhang, Shen-Ying; Gleeson, Joseph G.; Quintana-Murci, Lluis; Casanova, Jean-Laurent; Abel, Laurent; Patin, Etienne Share Save
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes Rausell, Antonio; Luo, Yufei; Lopez, Marie; Seeleuthner, Yoann; Rapaport, Franck; Favier, Antoine; Stenson, Peter D.; Cooper, David N.; Patin, Etienne; Casanova, Jean-Laurent; Quintana-Murci, Lluis; Abel, Laurent Share Save
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
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β Li, Juan; Ritelli, Marco; Ma, Cindy S.; Rao, Geetha; Habib, Tanwir; Corvilain, Emilie; Bougarn, Salim; Cypowyj, Sophie; Grodecka, Lucie; Levy, Romain; Beziat, Vivien; Shang, Lei; Payne, Kathryn; Avery, Danielle T.; Migaud, Melanie; Boucherit, Soraya; Boughorbel, Sabri; Guennoun, Andrea; Chrabieh, Maya; Rapaport, Franck; Bigio, Benedetta; Itan, Yuval; Boisson, Bertrand; Fieschi, Claire; Cormier-Daire, Valerie; Syx, Delfien; Malfait, Fransiska; Zoppi, Nicoletta; Abel, Laurent; Freiberger, Tomas; Dietz, Harry C.; Marr, Nico; Tangye, Stuart G.; Colombi, Marina; Casanova, Jean-Laurent; Puel, Anne Share Save
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis Drutman, Scott B.; Haerynck, Filomeen; Zhong, Franklin L.; Hum, David; Hernandez, Nicholas J.; Belkaya, Serkan; Rapaport, Franck; de Jong, Sarah Jill; Creytens, David; Tavernier, Simon J.; Bonte, Katrien; De Schepper, Sofie; ten Bosch, Jutte van der Werff; Lorenzo-Diaz, Lazaro; Wullaert, Andy; Bossuyt, Xavier; Orth, Gerard; Bonagura, Vincent R.; Beziat, Vivien; Abel, Laurent; Jouanguy, Emmanuelle; Reversade, Bruno; Laurent-Casanova, Jean Share Save
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Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis Maffucci, Patrick; Bigio, Benedetta; Rapaport, Franck; Cobat, Aurelie; Borghesi, Alessandro; Lopez, Marie; Pating, Etienne; Bolze, Alexandre; Shang, Lei; Bendavid, Matthieu; Scott, Eric M.; Stenson, Peter D.; Cunningham-Rundles, Charlotte; Cooper, David N.; Gleeson, Joseph G.; Fellay, Jacques; Quintana-Murci, Lluis; Casanova, Jean-Laurent; Abel, Laurent; Boisson, Bertrand; Itan, Yuval 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
Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins Carter-Timofte, Madalina E.; Hansen, Anders F.; Mardahl, Maibritt; Fribourg, Sebastien; Rapaport, Franck; Zhang, Shen-Ying; Casanova, Jean-Laurent; Paludan, Soren R.; Christiansen, Mette; Larsen, Carsten S.; Mogensen, Trine H. Share Save
JAK2/IDH-mutant-driven myeloproliferative neoplasm is sensitive to combined targeted inhibition (vol 128, pg 789 2018) McKenney, Anna Sophia; Lau, Allison N.; Somasundara, Amritha Varshini Hanasoge; Spitzer, Barbara; Intlekofer, Andrew M.; Ahn, Jihae; Shank, Kaitlyn; Rapaport, Franck T.; Patel, Minal A.; Papalexi, Efthymia; Shih, Alan H.; Chiu, April; Freinkman, Elizaveta; Akbay, Esra A.; Steadman, Mya; Nagaraja, Raj; Yen, Katharine; Teruya-Feldstein, Julie; Wong, Kwok-Kin; Rampal, Raajit; Vander Heiden, Matthew G.; Thompson, Craig B.; Levine, Ross L. Share Save
Jak1 Integrates Cytokine Sensing to Regulate Hematopoietic Stem Cell Function and Stress Hematopoiesis (vol 21, pg 489, 2017) Kleppe, Maria; Spitzer, Matthew H.; Li, Sheng; Hill, Corinne E.; Dong, Lauren; Papalexi, Efthymia; De Groote, Sofie; Bowman, Robert L.; Keller, Matthew; Koppikar, Priya; Rapaport, Franck T.; Teruya-Feldstein, Julie; Gandara, Jorge; Mason, Christopher E.; Nolan, Garry P.; Levine, Ross L. Share Save
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