A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4
Alsina, Laia, Israelsson, Elisabeth, Altman, Matthew C, Dang, Kristen K, Ghandil, Pegah, Israel, Laura, von Bernuth, Horst, Baldwin, Nicole, Qin, Huanying, Jin, Zongbo, Banchereau, Romain, Anguiano, Esperanza, Ionan, Alexei, Abel, Laurent, Puel, Anne, Picard, Capucine, Pascual, Virginia, Casanova, Jean Laurent, Chaussabel, Damien
Published in Nature immunology (01.12.2014)
Published in Nature immunology (01.12.2014)
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Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation
Ne, Karaca, G, Aksu, E, Ulusoy, C, Cavusoglu, C, Oleaga-Quintas, A, Nieto-Patlan, Me, Richard, C, Deswarte, Jl, Casanova, J, Bustamante, N, Kutukculer
Published in Journal of investigational allergology & clinical immunology (01.01.2016)
Published in Journal of investigational allergology & clinical immunology (01.01.2016)
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A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection
Casanova, Jean-Laurent, Su, Helen C., Abel, Laurent, Aiuti, Alessandro, Almuhsen, Saleh, Arias, Andres Augusto, Bastard, Paul, Biggs, Catherine, Bogunovic, Dusan, Boisson, Bertrand, Boisson-Dupuis, Stephanie, Bolze, Alexandre, Bondarenko, Anastasia, Bousfiha, Aziz, Brodin, Petter, Bustamante, Jacinta, Butte, Manish, Casari, Giorgio, Ciancanelli, Michael, Cobat, Aurelie, Condino-Neto, Antonio, Cooper, Megan, Dalgard, Clifton, Espinosa, Sara, Feldman, Hagit, Fellay, Jacques, Franco, Jose Luis, Hagin, David, Itan, Yuval, Jouanguy, Emmanuelle, Lucas, Carrie, Mansouri, Davood, Meyts, Isabelle, Milner, Joshua, Mogensen, Trine, Morio, Tomohiro, Ng, Lisa, Notarangelo, Luigi D., Okada, Satoshi, Ozcelik, Tayfun, Soler Palacín, Pere, Planas, Anna, Prando, Carolina, Puel, Anne, Pujol, Aurora, Redin, Claire, Renia, Laurent, Rodriguez Gallego, Jose Carlos, Quintana-Murci, Lluis, Sancho-Shimizu, Vanessa, Sankaran, Vijay, Seppänen, Mikko R.J., Shahrooei, Mohammad, Snow, Andrew, Spaan, András, Tangye, Stuart, Tur, Jordi Perez, Turvey, Stuart, Vinh, Donald C., von Bernuth, Horst, Wang, Xiaochuan, Zawadzki, Pawel, Zhang, Qian, Zhang, Shenying
Published in Cell (11.06.2020)
Published in Cell (11.06.2020)
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Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1
Bastard, Paul, Orlova, Elizaveta, Sozaeva, Leila, Lévy, Romain, James, Alyssa, Schmitt, Monica M, Ochoa, Sebastian, Kareva, Maria, Rodina, Yulia, Gervais, Adrian, Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Neehus, Anna-Lena, Shaw, Elana, Migaud, Mélanie, Bizien, Lucy, Ekwall, Olov, Berg, Stefan, Beccuti, Guglielmo, Ghizzoni, Lucia, Thiriez, Gérard, Pavot, Arthur, Goujard, Cécile, Frémond, Marie-Louise, Carter, Edwin, Rothenbuhler, Anya, Linglart, Agnès, Mignot, Brigite, Comte, Aurélie, Cheikh, Nathalie, Hermine, Olivier, Breivik, Lars, Husebye, Eystein S, Humbert, Sébastien, Rohrlich, Pierre, Coaquette, Alain, Vuoto, Fanny, Faure, Karine, Mahlaoui, Nizar, Kotnik, Primož, Battelino, Tadej, Trebušak Podkrajšek, Katarina, Kisand, Kai, Ferré, Elise M N, DiMaggio, Thomas, Rosen, Lindsey B, Burbelo, Peter D, McIntyre, Martin, Kann, Nelli Y, Shcherbina, Anna, Pavlova, Maria, Kolodkina, Anna, Holland, Steven M, Zhang, Shen-Ying, Crow, Yanick J, Notarangelo, Luigi D, Su, Helen C, Abel, Laurent, Anderson, Mark S, Jouanguy, Emmanuelle, Neven, Bénédicte, Puel, Anne, Casanova, Jean-Laurent, Lionakis, Michail S
Published in The Journal of experimental medicine (05.07.2021)
Published in The Journal of experimental medicine (05.07.2021)
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Foreword to the English Translation of Kostmann’s Memoirs
Casanova, Jean-Laurent, Hammarström, Lennart
Published in Journal of clinical immunology (01.05.2023)
Published in Journal of clinical immunology (01.05.2023)
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Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
Zhang, Qian, Matuozzo, Daniela, Le Pen, Jérémie, Lee, Danyel, Moens, Leen, Asano, Takaki, Bohlen, Jonathan, Liu, Zhiyong, Moncada-Velez, Marcela, Kendir-Demirkol, Yasemin, Jing, Huie, Bizien, Lucy, Marchal, Astrid, Abolhassani, Hassan, Delafontaine, Selket, Bucciol, Giorgia, Bayhan, Gulsum Ical, Keles, Sevgi, Kiykim, Ayca, Hancerli, Selda, Haerynck, Filomeen, Florkin, Benoit, Hatipoglu, Nevin, Ozcelik, Tayfun, Morelle, Guillaume, Zatz, Mayana, Ng, Lisa F P, Lye, David Chien, Young, Barnaby Edward, Leo, Yee-Sin, Dalgard, Clifton L, Lifton, Richard P, Renia, Laurent, Meyts, Isabelle, Jouanguy, Emmanuelle, Hammarström, Lennart, Pan-Hammarström, Qiang, Boisson, Bertrand, Bastard, Paul, Su, Helen C, Boisson-Dupuis, Stéphanie, Abel, Laurent, Rice, Charles M, Zhang, Shen-Ying, Cobat, Aurélie, Casanova, Jean-Laurent
Published in The Journal of experimental medicine (01.08.2022)
Published in The Journal of experimental medicine (01.08.2022)
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Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
Kreins, Alexandra Y, Ciancanelli, Michael J, Okada, Satoshi, Kong, Xiao-Fei, Ramírez-Alejo, Noé, 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, Sun Kuehn, Hye, 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, Stéphanie
Published in The Journal of experimental medicine (21.09.2015)
Published in The Journal of experimental medicine (21.09.2015)
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Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria
Yang, Rui, Mele, Federico, Worley, Lisa, Langlais, David, Rosain, Jérémie, Benhsaien, Ibithal, Elarabi, Houda, Croft, Carys A., Doisne, Jean-Marc, Zhang, Peng, Weisshaar, Marc, Jarrossay, David, Latorre, Daniela, Shen, Yichao, Han, Jing, Ogishi, Masato, Gruber, Conor, Markle, Janet, Al Ali, Fatima, Rahman, Mahbuba, Khan, Taushif, Seeleuthner, Yoann, Kerner, Gaspard, Husquin, Lucas T., Maclsaac, Julia L., Jeljeli, Mohamed, Errami, Abderrahmane, Ailal, Fatima, Kobor, Michael S., Oleaga-Quintas, Carmen, Roynard, Manon, Bourgey, Mathieu, El Baghdadi, Jamila, Boisson-Dupuis, Stéphanie, Puel, Anne, Batteux, Fréderic, Rozenberg, Flore, Marr, Nico, Pan-Hammarström, Qiang, Bogunovic, Dusan, Quintana-Murci, Lluis, Carroll, Thomas, Ma, Cindy S., Abel, Laurent, Bousfiha, Aziz, Di Santo, James P., Glimcher, Laurie H., Gros, Philippe, Tangye, Stuart G., Sallusto, Federica, Bustamante, Jacinta, Casanova, Jean-Laurent
Published in Cell (23.12.2020)
Published in Cell (23.12.2020)
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Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
Marrakchi, Slaheddine, Guigue, Philippe, Renshaw, Blair R, Puel, Anne, Pei, Xue-Yuan, Fraitag, Sylvie, Zribi, Jihen, Bal, Elodie, Cluzeau, Céline, Chrabieh, Maya, Towne, Jennifer E, Douangpanya, Jason, Pons, Christian, Mansour, Sourour, Serre, Valérie, Makni, Hafedh, Mahfoudh, Nadia, Fakhfakh, Faiza, Bodemer, Christine, Feingold, Josué, Hadj-Rabia, Smail, Favre, Michel, Genin, Emmanuelle, Sahbatou, Mourad, Munnich, Arnold, Casanova, Jean-Laurent, Sims, John E, Turki, Hamida, Bachelez, Hervé, Smahi, Asma
Published in The New England journal of medicine (18.08.2011)
Published in The New England journal of medicine (18.08.2011)
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Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
Boisson, Bertrand, Laplantine, Emmanuel, Prando, Carolina, Giliani, Silvia, Israelsson, Elisabeth, Xu, Zhaohui, Abhyankar, Avinash, Israël, Laura, Trevejo-Nunez, Giraldina, Bogunovic, Dusan, Cepika, Alma-Martina, MacDuff, Donna, Chrabieh, Maya, Hubeau, Marjorie, Bajolle, Fanny, Debré, Marianne, Mazzolari, Evelina, Vairo, Donatella, Agou, Fabrice, Virgin, Herbert W, Bossuyt, Xavier, Rambaud, Caroline, Facchetti, Fabio, Bonnet, Damien, Quartier, Pierre, Fournet, Jean-Christophe, Pascual, Virginia, Chaussabel, Damien, Notarangelo, Luigi D, Puel, Anne, Israël, Alain, Casanova, Jean-Laurent, Picard, Capucine
Published in Nature immunology (01.12.2012)
Published in Nature immunology (01.12.2012)
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Genome-wide detection of human variants that disrupt intronic branchpoints
Zhang, Peng, Philippot, Quentin, Ren, Weicheng, Lei, Wei-Te, Li, Juan, Stenson, Peter D, Palacín, Pere Soler, Colobran, Roger, Boisson, Bertrand, Zhang, Shen-Ying, Puel, Anne, Pan-Hammarström, Qiang, Zhang, Qian, Cooper, David N, Abel, Laurent, Casanova, Jean-Laurent
Published in Proceedings of the National Academy of Sciences - PNAS (01.11.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (01.11.2022)
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Human iPSC-derived trigeminal neurons lack constitutive TLR3-dependent immunity that protects cortical neurons from HSV-1 infection
Zimmer, Bastian, Ewaleifoh, Osefame, Harschnitz, Oliver, Lee, Yoon-Seung, Peneau, Camille, McAlpine, Jessica L., Liu, Becky, Tchieu, Jason, Steinbeck, Julius A., Lafaille, Fabien, Volpi, Stefano, Notarangelo, Luigi D., Casanova, Jean-Laurent, Zhang, Shen-Ying, Smith, Gregory A., Studer, Lorenz
Published in Proceedings of the National Academy of Sciences - PNAS (11.09.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (11.09.2018)
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Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency
Abolhassani, Hassan, Edwards, Emily S J, Ikinciogullari, Aydan, Jing, Huie, Borte, Stephan, Buggert, Marcus, Du, Likun, Matsuda-Lennikov, Mami, Romano, Rosa, Caridha, Rozina, Bade, Sangeeta, Zhang, Yu, Frederiksen, Juliet, Fang, Mingyan, Bal, Sevgi Kostel, Haskologlu, Sule, Dogu, Figen, Tacyildiz, Nurdan, Matthews, Helen F, McElwee, Joshua J, Gostick, Emma, Price, David A, Palendira, Umaimainthan, Aghamohammadi, Asghar, Boisson, Bertrand, Rezaei, Nima, Karlsson, Annika C, Lenardo, Michael J, Casanova, Jean-Laurent, Hammarström, Lennart, Tangye, Stuart G, Su, Helen C, Pan-Hammarström, Qiang
Published in The Journal of experimental medicine (01.01.2017)
Published in The Journal of experimental medicine (01.01.2017)
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Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation
Zhang, Qian, Bastard, Paul, Bolze, Alexandre, Jouanguy, Emmanuelle, Zhang, Shen-Ying, Cobat, Aurélie, Notarangelo, Luigi D., Su, Helen C., Abel, Laurent, Casanova, Jean-Laurent
Published in Med (18.12.2020)
Published in Med (18.12.2020)
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A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection
Andreakos, Evangelos, Abel, Laurent, Vinh, Donald C., Kaja, Elżbieta, Drolet, Beth A., Zhang, Qian, O’Farrelly, Cliona, Novelli, Giuseppe, Rodríguez-Gallego, Carlos, Haerynck, Filomeen, Prando, Carolina, Pujol, Aurora, Su, Helen C., Casanova, Jean-Laurent, Spaan, András N.
Published in Nature immunology (01.02.2022)
Published in Nature immunology (01.02.2022)
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Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency
Ogishi, Masato, Arias, Andrés Augusto, Yang, Rui, Han, Ji Eun, Zhang, Peng, Rinchai, Darawan, Halpern, Joshua, Mulwa, Jeanette, Keating, Narelle, Chrabieh, Maya, Lainé, Candice, Seeleuthner, Yoann, Ramírez-Alejo, Noé, Nekooie-Marnany, Nioosha, Guennoun, Andrea, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Kilic, Sara S, Minegishi, Yoshiyuki, Ehl, Stephan, Kaiser-Labusch, Petra, Kendir-Demirkol, Yasemin, Rozenberg, Flore, Errami, Abderrahmane, Zhang, Shen-Ying, Zhang, Qian, Bohlen, Jonathan, Philippot, Quentin, Puel, Anne, Jouanguy, Emmanuelle, Pourmoghaddas, Zahra, Bakhtiar, Shahrzad, Willasch, Andre M, Horneff, Gerd, Llanora, Genevieve, Shek, Lynette P, Chai, Louis Y A, Tay, Sen Hee, Rahimi, Hamid H, Mahdaviani, Seyed Alireza, Nepesov, Serdar, Bousfiha, Aziz A, Erdeniz, Emine Hafize, Karbuz, Adem, Marr, Nico, Navarrete, Carmen, Adeli, Mehdi, Hammarstrom, Lennart, Abolhassani, Hassan, Parvaneh, Nima, Al Muhsen, Saleh, Alosaimi, Mohammed F, Alsohime, Fahad, Nourizadeh, Maryam, Moin, Mostafa, Arnaout, Rand, Alshareef, Saad, El-Baghdadi, Jamila, Genel, Ferah, Sherkat, Roya, Kiykim, Ayça, Yücel, Esra, Keles, Sevgi, Bustamante, Jacinta, Abel, Laurent, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie
Published in The Journal of experimental medicine (03.10.2022)
Published in The Journal of experimental medicine (03.10.2022)
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