المؤلفون: Bellos, Evangelos, Santillo, Dilys, Vantourout, Pierre, Jackson, Heather, Duret, Amedine, Hearn, Henry, Seeleuthner, Yoann, Talouarn, Estelle, Hodeib, Stephanie, Patel, Harsita, Powell, Oliver, Yeoh, Sophya, Mustafa, Sobia, Habgood-Coote, Dominic, Nichols, Samuel, Estramiana Elorrieta, Leire, DSouza, Giselle, Wright, Victoria, Estrada-Rivadeneyra, Diego, Tremoulet, Adriana, Dummer, Kirsten, Netea, Stejara, Condino-Neto, Antonio, Lau, Yu, Núñez Cuadros, Esmeralda, Toubiana, Julie, Holanda Pena, Marisol, Rieux-Laucat, Frédéric, Luyt, Charles-Edouard, Haerynck, Filomeen, Mège, Jean, Chakravorty, Samya, Haddad, Elie, Morin, Marie-Paule, Metin Akcan, Özge, Keles, Sevgi, Emiroglu, Melike, Alkan, Gulsum, Tüter Öz, Sadiye, Elmas Bozdemir, Sefika, Morelle, Guillaume, Volokha, Alla, Kendir-Demirkol, Yasemin, Sözeri, Betul, Coskuner, Taner, Yahsi, Aysun, Gulhan, Belgin, Kanik-Yuksek, Saliha, Bayhan, Gulsum, Ozkaya-Parlakay, Aslinur, Yesilbas, Osman, Hatipoglu, Nevin, Ozcelik, Tayfun, Belot, Alexandre, Chopin, Emilie, Barlogis, Vincent, Sevketoglu, Esra, Menentoglu, Emin, Gayretli Aydin, Zeynep, Bloomfield, Marketa, AlKhater, Suzan, Cyrus, Cyril, Stepanovskiy, Yuriy, Bondarenko, Anastasiia, Öz, Fatma, Polat, Meltem, Fremuth, Jiří, Lebl, Jan, Geraldo, Amyrath, Jouanguy, Emmanuelle, Carter, Michael, Wellman, Paul, Peters, Mark, Pérez de Diego, Rebeca, Edwards, Lindsey, Chiu, Christopher, Noursadeghi, Mahdad, Bolze, Alexandre, Shimizu, Chisato, Kaforou, Myrsini, Hamilton, Melissa, Herberg, Jethro, Schmitt, Erica, Rodriguez-Palmero, Agusti, Pujol, Aurora, Kim, Jihoon, Cobat, Aurélie, Abel, Laurent, Zhang, Shen-Ying, Casanova, Jean-Laurent, Kuijpers, Taco, Burns, Jane, Levin, Michael, Hayday, Adrian, Sancho-Shimizu, Vanessa

المصدر: Journal of Experimental Medicine. 221(12)

مصطلحات موضوعية: Humans, COVID-19, Child, Systemic Inflammatory Response Syndrome, Male, Female, Butyrophilins, SARS-CoV-2, Child, Preschool, Heterozygote, Adolescent, Genetic Predisposition to Disease, Infant

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1570s2ms
https://escholarship.org/content/qt1570s2ms/qt1570s2ms.pdf

المؤلفون: Bastard, Paul, Zhang, Qian, Cobat, Aurélie, Jouanguy, Emmanuelle, Zhang, Shen-Ying, Abel, Laurent, Casanova, Jean-Laurent

المصدر: Comptes Rendus Biologies, Vol 344, Iss 1, Pp 19-25 (2021)

مصطلحات موضوعية: Life-threatening COVID-19, Pneumonia, Type I interferons, Inborn errors of immunity, Autoantibodies, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://comptes-rendus.academie-sciences.fr/biologies/articles/10.5802/crbiol.36/; https://doaj.org/toc/1768-3238

URL الوصول: https://doaj.org/article/54139b44ecd4477da8f5660c9a09e8f0

المؤلفون: Rosain, Jérémie, Le Voyer, Tom, Liu, Xian, Gervais, Adrian, Polivka, Laura, Cederholm, Axel, Berteloot, Laureline, Parent, Audrey, Pescatore, Alessandra, Spinosa, Ezia, Minic, Snezana, Kiszewski, Ana, Tsumura, Miyuki, Thibault, Chloé, Esnaola Azcoiti, Maria, Martinovic, Jelena, Philippot, Quentin, Khan, Taushif, Marchal, Astrid, Charmeteau-De Muylder, Bénédicte, Bizien, Lucy, Deswarte, Caroline, Hadjem, Lillia, Fauvarque, Marie-Odile, Dorgham, Karim, Eriksson, Daniel, Falcone, Emilia, Puel, Mathilde, Ünal, Sinem, Geraldo, Amyrath, Le Floch, Corentin, Li, Hailun, Rheault, Sylvie, Muti, Christine, Bobrie-Moyrand, Claire, Welfringer-Morin, Anne, Fuleihan, Ramsay, Lévy, Romain, Roelens, Marie, Gao, Liwei, Materna, Marie, Pellegrini, Silvia, Piemonti, Lorenzo, Catherinot, Emilie, Goffard, Jean-Christophe, Fekkar, Arnaud, Sacko-Sow, Aissata, Soudée, Camille, Boucherit, Soraya, Neehus, Anna-Lena, Has, Cristina, Hübner, Stefanie, Blanchard-Rohner, Géraldine, Amador-Borrero, Blanca, Utsumi, Takanori, Taniguchi, Maki, Tani, Hiroo, Izawa, Kazushi, Yasumi, Takahiro, Kanai, Sotaro, Migaud, Mélanie, Aubart, Mélodie, Lambert, Nathalie, Gorochov, Guy, Picard, Capucine, Soudais, Claire, LHonneur, Anne-Sophie, Rozenberg, Flore, Milner, Joshua, Zhang, Shen-Ying, Vabres, Pierre, Trpinac, Dusan, Marr, Nico, Boddaert, Nathalie, Desguerre, Isabelle, Pasparakis, Manolis, Miller, Corey, Poziomczyk, Cláudia, Abel, Laurent, Okada, Satoshi, Jouanguy, Emmanuelle, Cheynier, Rémi, Zhang, Qian, Cobat, Aurélie, Béziat, Vivien, Boisson, Bertrand, Steffann, Julie, Fusco, Francesca, Ursini, Matilde, Hadj-Rabia, Smail, Bodemer, Christine, Bustamante, Jacinta, Luche, Hervé, Puel, Anne, Courtois, Gilles, Bastard, Paul, Landegren, Nils, Anderson, Mark, Casanova, Jean-Laurent

المصدر: Journal of Experimental Medicine. 221(11)

مصطلحات موضوعية: Humans, Interferon Type I, Female, Autoantibodies, Thymus Gland, Child, Incontinentia Pigmenti, Child, Preschool, I-kappa B Kinase, Virus Diseases, Infant, Adult, Adolescent, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4w9704vh
https://escholarship.org/content/qt4w9704vh/qt4w9704vh.pdf

المؤلفون: Chan, Yi-Hao, Lundberg, Vanja, Le Pen, Jérémie, Yuan, Jiayi, Lee, Danyel, Pinci, Francesca, Volpi, Stefano, Nakajima, Koji, Bondet, Vincent, Åkesson, Sanna, Khobrekar, Noopur, Bodansky, Aaron, Du, Likun, Melander, Tina, Mariaggi, Alice-Andrée, Seeleuthner, Yoann, Saleh, Tariq, Chakravarty, Debanjana, Marits, Per, Dobbs, Kerry, Vonlanthen, Sofie, Hennings, Viktoria, Thörn, Karolina, Rinchai, Darawan, Bizien, Lucy, Chaldebas, Matthieu, Sobh, Ali, Özçelik, Tayfun, Keles, Sevgi, AlKhater, Suzan, Prando, Carolina, Meyts, Isabelle, Wilson, Michael, Rosain, Jérémie, Jouanguy, Emmanuelle, Aubart, Mélodie, Abel, Laurent, Mogensen, Trine, Pan-Hammarström, Qiang, Gao, Daxing, Duffy, Darragh, Cobat, Aurélie, Berg, Stefan, Notarangelo, Luigi, Harschnitz, Oliver, Rice, Charles, Studer, Lorenz, Casanova, Jean-Laurent, Ekwall, Olov, Zhang, Shen-Ying

المصدر: Journal of Experimental Medicine. 221(9)

مصطلحات موضوعية: Humans, Male, SARS-CoV-2, COVID-19, Brain Stem, Adolescent, Neurons, Encephalitis, Viral, Fibroblasts, Rhombencephalon

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3j5022c2
https://escholarship.org/content/qt3j5022c2/qt3j5022c2.pdf

المؤلفون: Peel, Jessica, Yang, Rui, Le Voyer, Tom, Gervais, Adrian, Rosain, Jérémie, Bastard, Paul, Behere, Anish, Cederholm, Axel, Bodansky, Aaron, Seeleuthner, Yoann, Conil, Clément, Ding, Jing-Ya, Lei, Wei-Te, Bizien, Lucy, Soudee, Camille, Migaud, Mélanie, Ogishi, Masato, Yatim, Ahmad, Lee, Danyel, Bohlen, Jonathan, Perpoint, Thomas, Perez, Laura, Messina, Fernando, Genet, Roxana, Karkowski, Ludovic, Blot, Mathieu, Lafont, Emmanuel, Toullec, Laurie, Goulvestre, Claire, Mehlal-Sedkaoui, Souad, Sallette, Jérôme, Martin, Fernando, Puel, Anne, Jouanguy, Emmanuelle, Anderson, Mark, Landegren, Nils, Tiberghien, Pierre, Abel, Laurent, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Ku, Cheng-Lung, Casanova, Jean-Laurent

المصدر: The Journal of Clinical Investigation. 134(8)

مصطلحات موضوعية: Autoimmune diseases, Cytokines, Genetics, Immunology, Adult, Humans, Autoantibodies, Autoimmune Diseases, Genetic Predisposition to Disease, Genotype, HLA-DRB1 Chains, Mycobacterium Infections, Nontuberculous

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1614554h
https://escholarship.org/content/qt1614554h/qt1614554h.pdf

المؤلفون: Bastard, Paul, Vazquez, Sara, Liu, Jamin, Laurie, Matthew T, Wang, Chung Yu, Gervais, Adrian, Le Voyer, Tom, Bizien, Lucy, Zamecnik, Colin, Philippot, Quentin, Rosain, Jérémie, Catherinot, Emilie, Willmore, Andrew, Mitchell, Anthea M, Bair, Rebecca, Garçon, Pierre, Kenney, Heather, Fekkar, Arnaud, Salagianni, Maria, Poulakou, Garyphallia, Siouti, Eleni, Sahanic, Sabina, Tancevski, Ivan, Weiss, Günter, Nagl, Laurenz, Manry, Jérémy, Duvlis, Sotirija, Arroyo-Sánchez, Daniel, Artal, Estela Paz, Rubio, Luis, Perani, Cristiano, Bezzi, Michela, Sottini, Alessandra, Quaresima, Virginia, Roussel, Lucie, Vinh, Donald C, Reyes, Luis Felipe, Garzaro, Margaux, Hatipoglu, Nevin, Boutboul, David, Tandjaoui-Lambiotte, Yacine, Borghesi, Alessandro, Aliberti, Anna, Cassaniti, Irene, Venet, Fabienne, Monneret, Guillaume, Halwani, Rabih, Sharif-Askari, Narjes Saheb, Danielson, Jeffrey, Burrel, Sonia, Morbieu, Caroline, Stepanovskyy, Yurii, Bondarenko, Anastasia, Volokha, Alla, Boyarchuk, Oksana, Gagro, Alenka, Neuville, Mathilde, Neven, Bénédicte, Keles, Sevgi, Hernu, Romain, Bal, Antonin, Novelli, Antonio, Novelli, Giuseppe, Saker, Kahina, Ailioaie, Oana, Antolí, Arnau, Jeziorski, Eric, Rocamora-Blanch, Gemma, Teixeira, Carla, Delaunay, Clarisse, Lhuillier, Marine, Le Turnier, Paul, Zhang, Yu, Mahevas, Matthieu, Pan-Hammarström, Qiang, Abolhassani, Hassan, Bompoil, Thierry, Dorgham, Karim, Gorochov, Guy, Laouenan, Cédric, Rodríguez-Gallego, Carlos, Ng, Lisa FP, Renia, Laurent, Pujol, Aurora, Belot, Alexandre, Raffi, François, Allende, Luis M, Martinez-Picado, Javier, Ozcelik, Tayfun, Imberti, Luisa, Notarangelo, Luigi D, Troya, Jesus, Solanich, Xavier, Zhang, Shen-Ying, Puel, Anne, Wilson, Michael R, Trouillet-Assant, Sophie, Abel, Laurent, Jouanguy, Emmanuelle

المصدر: Science Immunology. 8(90)

مصطلحات موضوعية: Medical Microbiology, Biomedical and Clinical Sciences, Immunology, Biotechnology, Immunization, Vaccine Related, Pneumonia, Emerging Infectious Diseases, Coronaviruses, Prevention, Lung, Pneumonia & Influenza, Infectious Diseases, Clinical Research, Infection, Good Health and Well Being, Humans, COVID-19, COVID-19 Vaccines, SARS-CoV-2, Vaccines, Vaccination, Interferon Type I, RNA, Messenger, COVID HGE Consortium, French COVID Study Group, COMET Consortium, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8628s3dx
https://escholarship.org/content/qt8628s3dx/qt8628s3dx.pdf

المؤلفون: Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey, Holland, Steve, Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte, Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini, Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M, Slatter, Mary, Palterer, Boaz, Keller, Michael, Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher, Gray, Paul, Belot, Alexandre, Kuehn, Hye, Rosenzweig, Sergio, Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart, Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa, Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim, Landegren, Nils, Notarangelo, Luigi, Le Voyer, Tom, Parent, Audrey, Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng

المصدر: Nature. 623(7988)

مصطلحات موضوعية: Humans, Autoantibodies, COVID-19, Gain of Function Mutation, Genetic Predisposition to Disease, Heterozygote, I-kappa B Proteins, Interferon Type I, Loss of Function Mutation, NF-kappa B, NF-kappa B p52 Subunit, Pneumonia, Viral, Thymus Gland, Thyroid Epithelial Cells

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6w33j3wh
https://escholarship.org/content/qt6w33j3wh/qt6w33j3wh.pdf

المؤلفون: García-García, Ana, Pérez de Diego, Rebeca, Flores, Carlos, Rinchai, Darawan, Solé-Violán, Jordi, Deyà-Martínez, Àngela, García-Solis, Blanca, Lorenzo-Salazar, José, Hernández-Brito, Elisa, Lanz, Anna-Lisa, Moens, Leen, Bucciol, Giorgia, Almuqamam, Mohamed, Domachowske, Joseph, Colino, Elena, Santos-Perez, Juan, Marco, Francisco, Pignata, Claudio, Bousfiha, Aziz, Turvey, Stuart, Bauer, Stefanie, Haerynck, Filomeen, Ocejo-Vinyals, Javier, Lendinez, Francisco, Prader, Seraina, Naumann-Bartsch, Nora, Pachlopnik Schmid, Jana, Biggs, Catherine, Hildebrand, Kyla, Dreesman, Alexandra, Cárdenes, Miguel, Ailal, Fatima, Benhsaien, Ibtihal, Giardino, Giuliana, Molina-Fuentes, Agueda, Fortuny, Claudia, Madhavarapu, Swetha, Conway, Daniel, Prando, Carolina, Schidlowski, Laire, Martínez de Saavedra Álvarez, María, Alfaro, Rafael, Rodríguez de Castro, Felipe, Meyts, Isabelle, Hauck, Fabian, Puel, Anne, Bastard, Paul, Boisson, Bertrand, Jouanguy, Emmanuelle, Abel, Laurent, Cobat, Aurélie, Zhang, Qian, Casanova, Jean-Laurent, Alsina, Laia, Rodríguez-Gallego, Carlos

المصدر: Journal of Experimental Medicine. 220(5)

مصطلحات موضوعية: Child, Humans, Adaptor Proteins, Signal Transducing, COVID-19, Myeloid Differentiation Factor 88, SARS-CoV-2, Toll-Like Receptor 7

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0tw8q4qs
https://escholarship.org/content/qt0tw8q4qs/qt0tw8q4qs.pdf

المؤلفون: Le Voyer, Tom, Parent, Audrey V., Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jeremie, Nguyen, Tina, Lorenzo, Malena Perez, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng, Bizien, Lucy, Hancioglu, Gonca, Ghillani-Dalbin, Pascale, Charuel, Jean-Luc, Philippot, Quentin, Gueye, Mame Sokhna, Renkilaraj, Majistor Raj Luxman Maglorius, Ogishi, Masato, Soudee, Camille, Migaud, Melanie, Rozenberg, Flore, Momenilandi, Mana, Riller, Quentin, Imberti, Luisa, Delmonte, Ottavia M., Mueller, Gabriele, Keller, Baerbel, Orrego, Julio, Gallego, William Alexander Franco, Rubin, Tamar, Emiroglu, Melike, Parvaneh, Nima, Eriksson, Daniel, Aranda-Guillen, Maribel, Berrios, David I., Vong, Linda, Katelaris, Constance H., Mustillo, Peter, Raedler, Johannes, Bohlen, Jonathan, Celik, Jale Bengi, Astudillo, Camila, Winter, Sarah, McLean, Catriona, Guffroy, Aurelien, DeRisi, Joseph L., Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Beziat, Vivien, Bustamante, Jacinta, Pan-Hammarstrom, Qiang, Zhang, Yu, Rosen, Lindsey B., Holland, Steve M., Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte A., Boztug, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini S., Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M. Cecilia, Slatter, Mary A., Palterer, Boaz, Keller, Michael D., Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombirikova, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria Elena, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher C., Gray, Paul E., Belot, Alexandre, Kuehn, Hye Sun, Rosenzweig, Sergio D., Miyara, Makoto, Licciardi, Francesco, Servettaz, Amelie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Gregoire, Sarrot-Reynauld, Francoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frederic, Tangye, Stuart G., Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa L., Assant, Sophie Trouillet, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurelie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim M., Landegren, Nils, 1986, Notarangelo, Luigi D., Anderson, Mark S., Casanova, Jean-Laurent, Puel, Anne

المصدر: Nature. 623(7988):803-813

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-525531
https://doi.org/10.1038/s41586-023-06717-x
https://uu.diva-portal.org/smash/get/diva2:1846552/FULLTEXT01.pdf

المؤلفون: Arango-Franco, Carlos A., Ogishi, Masato, Unger, Susanne, Delmonte, Ottavia M., Orrego, Julio César, Yatim, Ahmad, Velasquez-Lopera, Margarita M., Zea-Vera, Andrés F., Bohlen, Jonathan, Chbihi, Marwa, Fayand, Antoine, Sánchez, Juan Pablo, Rojas, Julian, Seeleuthner, Yoann, Le Voyer, Tom, Philippot, Quentin, Payne, Kathryn J., Gervais, Adrian, Erazo-Borrás, Lucia V., Correa-Londoño, Luis A., Cederholm, Axel, Gallón-Duque, Alejandro, Goncalves, Pedro, Doisne, Jean-Marc, Horev, Liran, Charmeteau-de Muylder, Bénédicte, Álvarez, Jesús Á., Arboleda, Diana M., Pérez-Zapata, Lizet, Vásquez-Echeverri, Estefanía, Moncada-Vélez, Marcela, López, Juan A., Caicedo, Yolanda, Palterer, Boaz, Patiño, Pablo J., Montoya, Carlos J., Chaldebas, Matthieu, Zhang, Peng, Nguyen, Tina, Ma, Cindy S., Jeljeli, Mohamed, Alzate, Juan F., Cabarcas, Felipe, Khan, Taushif, Rinchai, Darawan, Prétet, Jean-Luc, Boisson, Bertrand, Marr, Nico, Ibrahim, Ruba, Molho-Pessach, Vered, Boisson-Dupuis, Stéphanie, Kiritsi, Dimitra, Barata, João T., Landegren, Nils, 1986, Neven, Bénédicte, Abel, Laurent, Lisco, Andrea, Béziat, Vivien, Jouanguy, Emmanuelle, Bustamante, Jacinta, Di Santo, James P., Tangye, Stuart G., Notarangelo, Luigi D., Cheynier, Rémi, Natsuga, Ken, Arias, Andrés A., Luis Franco, José, Warnatz, Klaus, Casanova, Jean-Laurent, Puel, Anne

المصدر: Journal of Clinical Investigation. 134(19)

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-544279
https://doi.org/10.1172/jci180251
https://uu.diva-portal.org/smash/get/diva2:1917567/FULLTEXT01.pdf

المؤلفون: 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, Podkrajšek, Katarina Trebušak, Kisand, Kai, Ferré, Elise MN, 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

المصدر: Journal of Experimental Medicine. 218(7)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Prevention, Infectious Diseases, Rare Diseases, Pneumonia, Pneumonia & Influenza, Autoimmune Disease, Clinical Research, Lung, Adolescent, Adult, Autoantibodies, COVID-19, Child, Female, Humans, Interferon Type I, Male, Middle Aged, Polyendocrinopathies, Autoimmune, SARS-CoV-2, Young Adult, Medical and Health Sciences, Immunology, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5h50j4cx

المؤلفون: Materna, Marie, Delmonte, Ottavia, M, Bosticardo, Marita, Momenilandi, Mana, Conrey, Peyton, E, Charmeteau-de Muylder, Bénédicte, Bravetti, Clotilde, Bellworthy, Rebecca, Cederholm, Axel, Staels, Frederik, Ganoza, Christian, A, Darko, Samuel, Sayed, Samir, Le Floc’h, Corentin, Ogishi, Masato, Rinchai, Darawan, Guenoun, Andrea, Bolze, Alexandre, Khan, Taushif, Gervais, Adrian, Krüger, Renate, Völler, Mirjam, Palterer, Boaz, Sadeghi-Shabestari, Mahnaz, Langlois de Septenville, Anne, Schramm, Chaim, A, Shah, Sanjana, Tello-Cajiao, John, J, Pala, Francesca, Amini, Kayla, Campos, Jose, S, Lima, Noemia Santana, Eriksson, Daniel, Lévy, Romain, Seeleuthner, Yoann, Jyonouchi, Soma, Ata, Manar, Al Ali, Fatima, Deswarte, Caroline, Pereira, Anaïs, Mégret, Jérôme, Le Voyer, Tom, Bastard, Paul, Berteloot, Laureline, Dussiot, Michaël, Vladikine, Natasha, Cardenas, Paula, P, Jouanguy, Emmanuelle, Alqahtani, Mashael, Hasan, Amal, Thanaraj, Thangavel Alphonse, Rosain, Jérémie, Al Qureshah, Fahd, Sabato, Vito, Alyanakian, Marie Alexandra, Leruez-Ville, Marianne, Rozenberg, Flore, Haddad, Elie, Regueiro, Jose, R, Toribio, Maria, L, Kelsen, Judith, R, Salehi, Mansoor, Nasiri, Shahram, Torabizadeh, Mehdi, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Vatandoost, Nasimeh, Moravej, Hossein, Akrami, Seyed Mohammad, Mazloomrezaei, Mohsen, Cobat, Aurélie, Meyts, Isabelle, Toyofuku, Etsushi, Nishimura, Madoka, Moriya, Kunihiko, Mizukami, Tomoyuki, Imai, Kohsuke, Abel, Laurent, Malissen, Bernard, Al-Mulla, Fahd, Alkuraya, Fowzan Sami, Parvaneh, Nima, von Bernuth, Horst, Beetz, Christian, Davi, Frédéric, Douek, Daniel, C, Cheynier, Rémi, Langlais, David, Landegren, Nils, Marr, Nico, Morio, Tomohiro, Shahrooei, Mohammad, Schrijvers, Rik, Henrickson, Sarah, E, Luche, Hervé, Notarangelo, Luigi, D, Casanova, Jean-Laurent, Béziat, Vivien

المساهمون: National Institutes of Health Bethesda, MD, USA (NIH), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Uppsala Universitet Uppsala, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), Rockefeller University New York, Helix San Mateo, CA, Sidra Medicine Doha, Qatar, Hamad Bin Khalifa University Doha, Qatar (HBKU), Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), ANR-21-CE15-0034,CARMIL2,Bases moléculaires, cellulaires et immunologiques de la déficience combinée résultant de mutations dans CARMIL2(2021), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), European Project: 101057100,HORIZON-HLTH-2021-DISEASE-04 ,UNDINE(2022)

المصدر: ISSN: 0036-8075.

مصطلحات موضوعية: Data curation, Visualization, Software, Validation, Formal analysis, Investigation, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/grantAgreement//101057100/EU/The human genetic and immunological determinants of the clinical manifestations of SARS-CoV-2 infection: Towards personalised medicine/UNDINE

الاتاحة: https://hal.science/hal-04877280
https://hal.science/hal-04877280v1/document
https://hal.science/hal-04877280v1/file/nihms-1972302.pdf
https://doi.org/10.1126/science.adh4059

المؤلفون: Boisson-Dupuis, Stéphanie, Bastard, Paul, Béziat, Vivien, Bustamante, Jacinta, Cobat, Aurélie, Jouanguy, Emmanuelle, Puel, Anne, Rosain, Jérémie, Zhang, Qian, Zhang, Shen-Ying, Boisson, Bertrand

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University New York, Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université Paris-Cité., Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), ANRS ECTZ170784-ANRS0073, ARC Foundation ARCAGEING2022040004944, ITMO Cancer of Aviesan andINCa within the framework of the 2021–2030 Cancer Control Strategy, ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-21-CE15-0034,CARMIL2,Bases moléculaires, cellulaires et immunologiques de la déficience combinée résultant de mutations dans CARMIL2(2021), ANR-24-CE15-5334,PTCRA,Déficit héréditaire complet et partiel en pT? humain(2024), ANR-24-CE15-1236,KDGenImmu,Déficits immunitaires monogéniques responsables de la maladie de Kawasaki: des nouvelles approches génétiques et immunologiques(2024), ANR-24-CE15-5475,ILC_BY_DESIGN,Modéliser le devenir, la fonction et la 'fitness' des ILC humaines.(2024), ANR-21-RHUS-0008,COVIFERON,Covid-19 and interferons: from discovery to therapy(2021), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-20-CE93-0003,GENVIR,Analyse multi-omique de l'immunité anti-virale: de l'identification des circuits biologiques pertinents à la découverte de défauts monogéniques héréditaires de l'immunité chez les patients avec infections virales sévères(2020), ANR-21-CE17-0014,KREM-AIF,KREMEN2, un nouvel inhibiteur de l'auto-inflammation médié par NF-kB impliqué dans les maladies généiques humaines(2021), ANR-21-LIBA-0002,AAILC,Autoanticorps contre les interférons de type I chez les patients libanais hospitalisés pour COVID-19.(2021), ANR-21-COVR-0039,GenMIS-C,Recherche des Déficits immunitaires innées monogéniques prédisposant au syndrome inflammatoire multisystémique chez l'enfant.(2021), ANR-22-CE15-0046,AI2D,Autoanticorps anti-interférons et maladies infectieuses associées(2022), ANR-22-CE92-0008,MAFMACRO,Genetic predisposition and the role of myeloid cells in the susceptibility to mycobacterial infection(2022), ANR-22-CE92-0004,GENFLU,Rôle de la prédisposition génétique et les autoanticorps anti-IFN dans le développement des infections grippales sévères ?(2022), ANR-23-CE15-0011,AIDIRAK,Autoinflammation chez des patients présentant un déficit héréditaire en IRAK4 : un paradoxe(2023), European Project: 101057100,HORIZON-HLTH-2021-DISEASE-04 ,UNDINE(2022)

المصدر: ISSN: 0091-6749 ; Journal of Allergy and Clinical Immunology ; https://hal.science/hal-04876055 ; Journal of Allergy and Clinical Immunology, 2024, ⟨10.1016/j.jaci.2024.12.1078⟩.

مصطلحات موضوعية: Mendelian and monogenic infections Inborn errors of immunity infections protection against common pathogens IEI: inborn errors of immunity GWAS: genome-wide association studies MSMD: Mendelian susceptibility to mycobacterial disease EM: environmental mycobacteria, Mendelian and monogenic infections, Inborn errors of immunity, infections, protection against common pathogens IEI: inborn errors of immunity GWAS: genome-wide association studies MSMD: Mendelian susceptibility to mycobacterial disease EM: environmental mycobacteria, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/grantAgreement//101057100/EU/The human genetic and immunological determinants of the clinical manifestations of SARS-CoV-2 infection: Towards personalised medicine/UNDINE

الاتاحة: https://hal.science/hal-04876055
https://hal.science/hal-04876055v1/document
https://hal.science/hal-04876055v1/file/monogenic%20landscape.pdf
https://doi.org/10.1016/j.jaci.2024.12.1078

المؤلفون: Gervais, Adrian, Le Floc’h, Corentin, Le Voyer, Tom, Bizien, Lucy, Bohlen, Jonathan, Celmeli, Fatih, Al Qureshah, Fahd, Masson, Cécile, Rosain, Jérémie, Chbihi, Marwa, Lévy, Romain, Castagnoli, Riccardo, Rothenbuhler, Anya, Jouanguy, Emmanuelle, Masso, Céci, Zhang, Shen-Ying, Béziat, Vivien, Bustamante, Jacinta, Rothenbuh, Anya, Bastard, Paul, Casanova, Jean-Laurent

المساهمون: Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University New York, Hopital Saint-Louis AP-HP (AP-HP), Antalya Bilim University, Structure Fédérative de Recherche Necker (UAR 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Università degli Studi di Pavia Italia = University of Pavia Italy = Université de Pavie Italie (UNIPV), Fondazione IRCCS Policlinico San Matteo Pavia, Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Howard Hughes Medical Institute New York (HHMI), Howard Hughes Medical Institute (HHMI)-New York University School of Medicine, NYU System (NYU)-NYU System (NYU)-Rockefeller University New York -Columbia University Irving Medical Center (CUIMC), ANR-20-CE93-0003,GENVIR,Analyse multi-omique de l'immunité anti-virale: de l'identification des circuits biologiques pertinents à la découverte de défauts monogéniques héréditaires de l'immunité chez les patients avec infections virales sévères(2020)

المصدر: ISSN: 0027-8424.

مصطلحات موضوعية: ELISA, IP-10, auto-antibodies, diagnostic test, type I interferons, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/39312669; PUBMED: 39312669; PUBMEDCENTRAL: PMC11459193

الاتاحة: https://hal.science/hal-04816050
https://hal.science/hal-04816050v1/document
https://hal.science/hal-04816050v1/file/pnas.202402983.pdf
https://doi.org/10.1073/pnas.2402983121

المؤلفون: Momenilandi, Mana, Lévy, Romain, Sobrino, Steicy, Li, Jingwei, Lagresle-Peyrou, Chantal, Esmaeilzadeh, Hossein, Fayand, Antoine, Le Floc'h, Corentin, Guerin, Antoine, Della Mina, Erika, Shearer, Debra, Delmonte, Ottavia M., Yatim, Ahmad, Mulder, Kevin, Mancini, Mathieu, Rinchai, Darawan, Denis, Adeline, Neehus, Anna-Lena, Balogh, Karla, Brendle, Sarah, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Seeleuthner, Yoann, Deswarte, Caroline, Bessot, Boris, Cremades, Cassandre, Materna, Marie, Cederholm, Axel, Ogishi, Masato, Philippot, Quentin, Beganovic, Omer, Ackermann, Mania, Wuyts, Margareta, Khan, Taushif, Fouéré, Sebastien, Herms, Florian, Chanal, Johan, Palterer, Boaz, Bruneau, Julie, Molina, Thierry J., Leclerc-Mercier, Stéphanie, Prétet, Jean-Luc, Youssefian, Leila, Vahidnezhad, Hassan, Parvaneh, Nima, Claeys, Kristl G., Schrijvers, Rik, Luka, Marine, Pérot, Philippe, Fourgeaud, Jacques, Nourrisson, Céline, Poirier, Philippe, Jouanguy, Emmanuelle, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Notarangelo, Luigi D., Christensen, Neil, Landegren, Nils, Abel, Laurent, Marr, Nico, Six, Emmanuelle, Langlais, David, Waterboer, Tim, Ginhoux, Florent, Ma, Cindy S., Tangye, Stuart G., Meyts, Isabelle, Lachmann, Nico, Hu, Jiafen, Shahrooei, Mohammad, Bossuyt, Xavier, Casanova, Jean-Laurent, Béziat, Vivien

مصطلحات موضوعية: Immunology in the medical area, Immunologi inom det medicinska området, Hematology, Hematologi, Cell and Molecular Biology, Cell- och molekylärbiologi

وصف الملف: application/pdf

Relation: Cell, 0092-8674, 2024, 187:11, s. 2817-2837.e31; PMID 38701783; ISI:001271502700001

الاتاحة: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-540805
https://doi.org/10.1016/j.cell.2024.04.009

المؤلفون: Bastard, Paul, Gervais, Adrian, Le Voyer, Tom, Philippot, Quentin, Cobat, Aurélie, Rosain, Jérémie, Jouanguy, Emmanuelle, Abel, Laurent, Zhang, Shen‐ying, Zhang, Qian, Puel, Anne, Casanova, Jean‐Laurent

المساهمون: Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University New York, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hopital Saint-Louis AP-HP (AP-HP), AP-HP - Hôpital Bichat - Claude Bernard Paris, Howard Hughes Medical Institute (HHMI), ANR-22-CE15-0046,AI2D,Autoanticorps anti-interférons et maladies infectieuses associées(2022), ANR-21-LIBA-0002,AAILC,Autoanticorps contre les interférons de type I chez les patients libanais hospitalisés pour COVID-19.(2021), ANR-20-CE93-0003,GENVIR,Analyse multi-omique de l'immunité anti-virale: de l'identification des circuits biologiques pertinents à la découverte de défauts monogéniques héréditaires de l'immunité chez les patients avec infections virales sévères(2020)

المصدر: ISSN: 0105-2896.

مصطلحات موضوعية: COVID-19, aging, autoimmunity, type I interferons, viral infections, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38193358; PUBMED: 38193358; PUBMEDCENTRAL: PMC10950543

الاتاحة: https://hal.science/hal-04816171
https://hal.science/hal-04816171v1/document
https://hal.science/hal-04816171v1/file/Immunological%20Reviews%20-%202024%20-%20Bastard%20-%20Human%20autoantibodies%20neutralizing%20type%20I%20IFNs%20From%201981%20to%202023-1.pdf
https://doi.org/10.1111/imr.13304

المؤلفون: Bastard, Paul, Gervais, Adrian, Taniguchi, Maki, Saare, Liisa, Särekannu, Karita, Le Voyer, Tom, Philippot, Quentin, Rosain, Jérémie, Bizien, Lucy, Asano, Takaki, Garcia-Prat, Marina, Parra-Martínez, Alba, Migaud, Mélanie, Tsumura, Miyuki, Conti, Francesca, Belot, Alexandre, Rivière, Jacques, G, Morio, Tomohiro, Tanaka, Junko, Javouhey, Etienne, Haerynck, Filomeen, Duvlis, Sotirija, Ozcelik, Tayfun, Keles, Sevgi, Tandjaoui-Lambiotte, Yacine, Escoda, Simon, Husain, Maya, Pan-Hammarström, Qiang, Hammarström, Lennart, Ahlijah, Gloria, Abi Haidar, Anthony, Soudee, Camille, Arseguel, Vincent, Abolhassani, Hassan, Sahanic, Sabina, Tancevski, Ivan, Nukui, Yoko, Hayakawa, Seiichi, Chrousos, George, P, Michos, Athanasios, Tatsi, Elizabeth-Barbara, Filippatos, Filippos, Rodriguez-Palmero, Agusti, Troya, Jesus, Tipu, Imran, Meyts, Isabelle, Roussel, Lucie, Ostrowski, Sisse Rye, Schidlowski, Laire, Prando, Carolina, Condino-Neto, Antonio, Cheikh, Nathalie, Bousfiha, Ahmed, A, El Bakkouri, Jalila, Aguilera-Albesa, Sergio, Alkhater, Suzan, A, Alkan, Gulsum, Castagnoli, Riccardo, Cyrus, Cyril, Elmas Bozdemir, Sefika, Emiroglu, Melike, Gulhan, Belgin, Erdeniz, Emine Hafize, Hatipoglu, Nevin, Bayhan, Gülsün Iclal, Jabandziev, Petr, Kanik Yuksek, Saliha, Karbuz, Adem, Tüter Öz, Şadiye Kübra, Marseglia, Gian Luigi, Metin Akcan, Ozge, Kılıç, Ahmet Osman, Ozkaya Parlakay, Aslinur, Papadaki, Maria, Slaba, Katerina, Sevketoglu, Esra, Valencia-Ramos, Juan, Yahşi, Aysun, Aguilera Guirao, Antonio, Álvarez Escudero, Julián, Antela López, Antonio, Barbeito Castiñeiras, Gema, Bello Paderne, Xabier, Ben García, Miriam, Carral García, María Victoria, Cebey López, Miriam, Coira Nieto, Amparo, Conde Pájaro, Mónica, Costa Alcalde, José Javier, Currás Tuala, María José, Dacosta Urbieta, Ana Isabel, Díaz Esteban, Blanca, Domínguez Santalla, María Jesús, Fernández Pérez, Cristina, Fernández Villaverde, Juan, Galbán Rodríguez, Cristóbal, García Allut, José Luis, García Vicente, Luisa, Giráldez Vázquez, Elena, Gómez Carballa, Alberto, Gómez Rial, José, González Barcala, Francisco Javier, Guerra Liñares, Beatriz, Leboráns Iglesias, Pilar, Lence Massa, Beatriz, Lendoiro Fuentes, Marta, López Franco, Montserrat, López Lago, Ana, Martinón-Torres, Federico, Salas, Antonio, Navarro de la Cruz, Daniel, Núñez Masid, Eloína, Ortolá Devesa, Juan Bautista, Pardo Seco, Jacobo, Pazo Núñez, María, Pérez del Molino Bernal, Marisa, Pérez Freixo, Hugo, Piñeiro Rodríguez, Lidia, Pischedda, Sara, Portela Romero, Manuel, Pose Reino, Antonio, Prada Hervella, Gloria María, Queiro Verdes, Teresa, Redondo Collazo, Lorenzo, Regueiro Casuso, Patricia, Rey García, Susana, Rey Vázquez, Sara, Riveiro Blanco, Vanessa, Rivero Calle, Irene, Rivero Velasco, Carmen, Rodríguez Núñez, Nuria, Rodríguez-Tenreiro Sánchez, Carmen, Saborido Paz, Eva, Sadiki Orayyou, José Miguel, Saito Villanueva, Carla, Serén Fernández, Sonia, Souto Sanmartín, Pablo, Taboada Muñiz, Manuel, Trastoy Pena, Rocío, Treviño Castellano, Mercedes, Valdés Cuadrado, Luis, Varela García, Pablo, Vilas Iglesias, María Soledad, Viz Lasheras, Sandra, Ferreiro-Iglesias, Rocio, Bastón-Rey, Iria, Calviño-Suárez, Cristina, Abel, Laurent, Aiuti, Alessandro, Al-Muhsen, Saleh, Al-Mulla, Fahd, Amara, Ali, Anderson, Mark, S, Andreakos, Evangelos, Arias, Andrés, A, Arkin, Lisa, M, Baris Feldman, Hagit, Biggs, Catherine, M, Bogunovic, Dusan, Bolze, Alexandre, Bondarenko, Anastasiia, Brodin, Petter, Bryceson, Yenan, Butte, Manish, J, Casanova, Jean-Laurent, Casari, Giorgio, Christodoulou, John, Cobat, Aurélie, Colobran, Roger, Constantinescu, Stefan, N, Cooper, Megan, A, Dalgard, Clifton, L, Desai, Murkesh, Drolet, Beth, A, Duval, Xavier, El Baghdadi, Jamila, Eloy, Philippine, Espinosa-Padilla, Sara, Fellay, Jacques, Flores, Carlos, Franco, José Luis, Froidure, Antoine, Gorochov, Guy, Gregersen, Peter, K, Grimbacher, Bodo, Hagin, David, Halwani, Rabih, Heath, James, R, Hsieh, Elena W.Y., Husebye, Eystein, Imai, Kohsuke, Itan, Yuval, Jarvis, Erich, D, Jouanguy, Emmanuelle, Kaja, Elżbieta, Karamitros, Timokratis, Kisand, Kai, Ku, Cheng-Lung, Lau, Yu-Lung, Ling, Yun, Lucas, Carrie, L, Mansouri, Davood, Maródi, László, Mentré, France, Milner, Joshua, D, Mironska, Kristina, Mogensen, Trine, H, Ng, Lisa F.P., Notarangelo, Luigi, D, Novelli, Antonio, Novelli, Giuseppe, O’Farrelly, Cliona, Okada, Satoshi, Okamoto, Keisuke, Pape, Jean, W, Perez de Diego, Rebeca, Perez-Tur, Jordi, Perlin, David, S, Pesole, Graziano, Planas, Anna, M, Pujol, Aurora, Puel, Anne, Quintana-Murci, Lluis, Ramaswamy, Sathishkumar, Renia, Laurent, Resnick, Igor, Rodríguez-Gallego, Carlos, Sancho-Shimizu, Vanessa, Sediva, Anna, Seppänen, Mikko R.J., Shahrooei, Mohammed, Shcherbina, Anna, Slaby, Ondrej, Snow, Andrew, L, Soler-Palacín, Pere, Soumelis, Vassili, Spaan, András, N, Su, Helen, C, Tangye, Stuart, G, Abou Tayoun, Ahmad, Temel, Şehime Gülsün, Thorball, Christian, Tiberghien, Pierre, Trouillet-Assant, Sophie, Turvey, Stuart, E, Furkan Uddin, K.M., Uddin, Mohammed, J, van de Beek, Diederik, Vinh, Donald, C, von Bernuth, Horst, Wauters, Joost, Zatz, Mayana, Zawadzki, Pawel, Zhang, Qian, Zhang, Shen-Ying, Peterson, Pärt, Lévy, Romain, Quartier, Pierre, Boisson, Bertrand, Béziat, Vivien, Borghesi, Alessandro, Pession, Andrea, Marr, Nico, Mentis, Alexios-Fotios A, Tillmann, Vallo, Neven, Bénédicte, Gómez-Carballa, Alberto, Gonzalez-Granado, Luis, I

المساهمون: Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Activation et transduction du signal dans les lymphocytes - Lymphocyte activation and signaling CIRI (CIRI-LYACTS), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon), Université de Lyon-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon), Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), ANR-22-CE15-0046,AI2D,Autoanticorps anti-interférons et maladies infectieuses associées(2022), ANR-21-LIBA-0002,AAILC,Autoanticorps contre les interférons de type I chez les patients libanais hospitalisés pour COVID-19.(2021), ANR-20-CE93-0003,GENVIR,Analyse multi-omique de l'immunité anti-virale: de l'identification des circuits biologiques pertinents à la découverte de défauts monogéniques héréditaires de l'immunité chez les patients avec infections virales sévères(2020)

المصدر: ISSN: 0022-1007.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04815875
https://hal.science/hal-04815875v1/document
https://hal.science/hal-04815875v1/file/JEM_20231353.pdf
https://doi.org/10.1084/jem.20231353

المؤلفون: Peel, Jessica, N, Yang, Rui, Le Voyer, Tom, Gervais, Adrian, Rosain, Jérémie, Bastard, Paul, Behere, Anish, Cederholm, Axel, Bodansky, Aaron, Seeleuthner, Yoann, Conil, Clément, Ding, Jing-Ya, Lei, Wei-Te, Bizien, Lucy, Soudee, Camille, Migaud, Mélanie, Ogishi, Masato, Yatim, Ahmad, Lee, Danyel, Bohlen, Jonathan, Perpoint, Thomas, Perez, Laura, Messina, Fernando, Genet, Roxana, Karkowski, Ludovic, Blot, Mathieu, Lafont, Emmanuel, Toullec, Laurie, Goulvestre, Claire, Mehlal-Sedkaoui, Souad, Sallette, Jérôme, Martin, Fernando, Puel, Anne, Jouanguy, Emmanuelle, Anderson, Mark, S, Landegren, Nils, Tiberghien, Pierre, Abel, Laurent, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Ku, Cheng-Lung, Casanova, Jean-Laurent

المساهمون: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University New York, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hopital Saint-Louis AP-HP (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Necker - Enfants Malades AP-HP, Uppsala University, University of California San Francisco (UC San Francisco), University of California (UC), Chang Gung University Taïwan, Hsinchu Cathay General Hospital (CGH), Hospices Civils de Lyon (HCL), Hospital Nacional de Pediatría Prof. Dr Juan P. Garrahan Buenos Aires, Hospital Francisco Javier Muñiz, CHR de Metz-Thionville, Hopital d'instruction des armées Sainte-Anne Toulon (HIA), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Paris Cité (UPCité), Hôpital Cochin AP-HP, Laboratoire CERBA Saint Ouen l'Aumône, Karolinska Institute, Etablissement Français du Sang La Plaine Saint-Denis (EFS), Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) (RIGHT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang Bourgogne-Franche-Comté (EFS BFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté COMUE (UBFC)-Université Bourgogne Franche-Comté COMUE (UBFC), Chang Gung Memorial Hospital Taipei (CGMH), Howard Hughes Medical Institute Boston (HHMI), Howard Hughes Medical Institute (HHMI)-Harvard Medical School Boston (HMS), ANR-22-CE92-0008,MAFMACRO,Genetic predisposition and the role of myeloid cells in the susceptibility to mycobacterial infection(2022), ANR-22-CE15-0046,AI2D,Autoanticorps anti-interférons et maladies infectieuses associées(2022), ANR-20-CE93-0003,GENVIR,Analyse multi-omique de l'immunité anti-virale: de l'identification des circuits biologiques pertinents à la découverte de défauts monogéniques héréditaires de l'immunité chez les patients avec infections virales sévères(2020)

المصدر: ISSN: 1558-8238 ; The Journal of clinical investigation ; https://hal.science/hal-04815928 ; The Journal of clinical investigation, 2024, 134 (8), pp.e178263. ⟨10.1172/JCI178263⟩.

مصطلحات موضوعية: Autoimmune diseases, Cytokines, Genetics, Immunology, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38470480; PUBMED: 38470480; PUBMEDCENTRAL: PMC11014650

الاتاحة: https://hal.science/hal-04815928
https://hal.science/hal-04815928v1/document
https://hal.science/hal-04815928v1/file/jci-134-178263.pdf
https://doi.org/10.1172/JCI178263

المؤلفون: Arias, Andrés A., Neehus, Anna Lena, Arango-Franco, Carlos A., Orrego, Julio, Rojas, Julian, Erazo-Borrás, Lucia, Moncada-Vélez, Marcela, Carmona, María Camila, Obando, Catalina, Alvarez, Jesús, Sanchez, Juan P., Tejada-Giraldo, Manuela, Agudelo, María L., Perez-Zapata, Lizet J., Arboleda, Diana M., Franco, José Luis, Ogishi, Masato, Yang, Rui, Rinchai, Darawan, Han, Ji Eun, Ponsin, Khoren, Chaldebas, Matthieu, Lee, Danyel, Bailey, Rasheed, Bastard, Paul, Keating, Narelle, Rapaport, Franck, Pelham, Simon J., Jouanguy, Emmanuelle, Puel, Anne, Boisson, Bertrand, Zhang, Peng, Abel, Laurent, Bustamante, Jacinta, Casanova, Jean Laurent, Meynier, Vincent, Corcini Berndt, Melissa, Li, Hailun, Philippot, Quentin, Bohlen, Jonathan, Rosain, Jérémie, Le Voyer, Tom, Janotte, Till, Amarajeeva, Krishnajina, Soudée, Camille, Seeleuthner, Yoann, Lainé, Candice, Krebs, Adam, Lazarov, Tomi, Glickman, Michael S., Geissmann, Frédéric, Lee, Angela M., Nathan, Carl F., Pillay, Bethany, Ma, Cindy S., Tangye, Stuart G., Salvator, Hélène, Brollo, Marion, Marquant, Quentin, Wiegmann, Katja, Krönke, Martin, Kloos, Doreen, Lachmann, Nico, Khan, Taushif, Cataño, Juan Carlos, Martínez-Rosado, Larry Luber, L Honneur, Anne Sophie, Alzate, Juan Fernando, Cabarcas, Felipe, Zuluaga, Alejandra, Ensser, Armin, Schmidt, Monika, Velásquez-Lopera, Margarita M., Ghirardello, Stefano, Borghesi, Alessandro, Pahari, Susanta, Schlesinger, Larry S., Pittaluga, Stefania, Emile, Jean François, Notarangelo, Luigi D., Marr, Nico, Boisson-Dupuis, Stéphanie

المساهمون: Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Foch Suresnes, UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay, Virologie et Immunologie Moléculaires (VIM (UR 0892)), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), AP-HP - Hôpital Cochin Broca Hôtel Dieu Paris, Hôpital Ambroise Paré AP-HP, This paper is dedicated to the memory of Pierre Vassalli. We thank the patients, their relatives and their physicians for participating in this study, E. Williams, Y. Nemirovskaya, M. Woollett, M. Chrabieh, A. Bejou, L. Lorenzo and D. Liu for administrative assistance, T. Kochetkov for technical assistance, all of the members of the Laboratory of Human Genetics of Infectious Disease for discussions, I. Müller-Fleckenstein, B. Fleckenstein and A. Rötig, the staff at the Flow Cytometry Resource Center at the Rockefeller University (FCRC, RRID:SCR_017694), the Viral Vectors and Gene Transfer Platform (VVTG)-SFR Necker US24. We thank S. Elledge (Brigham and Women’s Hospital, Harvard University Medical School) for providing the VirScan phage library used in this study, the Empire State Stem Cell Fund for providing support through NYSDOH Contract C023046, the staff at the National Institutes of Health (NIH) Tetramer Core Facility (NTCF) for providing the MR1 tetramer, which was developed jointly with J. McCluskey, J. Rossjohn and D. Fairlie. This study was supported in part by W. E. Ford (General Atlantic) and G. Caillaux (General Atlantic), by grants from the General Atlantic Foundation, the St. Giles Foundation, The Rockefeller University, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris Cité University, Sidra Medicine, the National Institute of Allergy and Infectious Diseases (R01AI095983 to J. Bustamante and J.-L.C., U19AI162568 to J.-L.C. and U19AI142737 to S.B.-D., U19AI135990 to M.S.G.), the National Center for Research Resources, the National Center for Advancing Sciences of the National Institutes of Health (UL1TR001866), the French National Research Agency (ANR) under the “Investments for the Future” program (ANR-10-IAHU-01), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID), ANRS (ECTZ170784-ANRS0073 to S.B.-D.), MAFMACRO (ANR-22-CE92-0008 to J. Bustamante and N.L.), ECOS-NORD (C19S01-63407 to J. Bustamante and J.L.F.), the French Foundation for Medical Research (FRM) (EQU201903007798) and the SCOR Corporate Foundation for Science. N.L. received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation program (grant agreement no. 852178), Deutsche Forschungsgemeinschaft (DFG, German Research Foundation, LA 3680/9-1) and under Germany’s Excellence Strategy, EXC 2155, project number 390874280 and REBIRTH “Förderung aus Mitteln des Niedersächsischen Vorab”. A.A.A., C.A.A.-F., L.E.-B. and J.L.F. were supported by the Ministerio de Ciencia Tecnología e Innovación MINCIENCIAS (111574455633/CT 713-2016 and 111584467551/CT 415-2020), the Movilidad Académica ECOS-Nord/MINCIENCIAS (CT 806-2018/046-2019), the Comité para el Desarrollo de la Investigación, CODI—Universidad de Antioquia (CT 2017-16003), the Jeffrey Modell Foundation and the Fundación Diana Garcia de Olarte para las Inmunodeficiencias Primarias (FIP, Colombia). A.-L.N. was supported by the international PhD program of the Imagine Institute, the Bettencourt-Schueller Foundation and the fin de thèse program of the FRM (FDT202204015102). M.O. was supported by the David Rockefeller Graduate Program, the New York Hideyo Noguchi Memorial Society (HNMS), the Funai Foundation for Information Technology (FFIT) and the Honjo International Scholarship Foundation (HISF). R.Y. was supported by the Immune Deficiency Foundation and the Stony Wold-Herbert Fund. A.M.L. and C.F.N. were supported by the Abby and Howard P. Milstein Program in Chemical Biology and Translational Medicine. T.L.V., P.B. and J. Rosain were supported by the MD-PhD program of the Imagine Institute with the support of the Bettencourt-Schueller Foundation. J. Rosain was supported by the Inserm PhD program (poste d’accueil Inserm). D.L. was supported by a Fondation pour la Recherche Médicale (FRM) fellowship for medical residents and fellows (FDM202006011282). H.L. is supported by the LabEX-IBEID. J. Bohlen is an EMBO postdoctoral fellow supported by a Marie Curie Research grant. M.K. is supported by the CMMC Senior Research Group Program (SRG III, PSP 7102-9530-0004-04). This work was supported by a National Institutes of Health (NIH) award (AI136831, P30AI168439) (to L.S.S.), Texas Biomed Cowles, Forum Postdoctoral Fellowship and the Interdisciplinary NexGen TB Research Advancement Center (IN-TRAC) Pilot Grant (to S. Pahari). H.S. was supported by LVL medical, Oxyvie and the Foch Foundation. C.S.M. and S.G.T. are supported by Investigator Grants awarded by the National Health and Medical Research Council (NHMRC) of Australia (grant ID 2017463, 1176665)., ANR-22-CE92-0008,MAFMACRO,Genetic predisposition and the role of myeloid cells in the susceptibility to mycobacterial infection(2022)

المصدر: ISSN: 0028-0836.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/39198650; PUBMED: 39198650; WOS: 001301256200004

الاتاحة: https://hal.science/hal-04836045
https://hal.science/hal-04836045v1/document
https://hal.science/hal-04836045v1/file/s41586-024-07866-3.pdf
https://doi.org/10.1038/s41586-024-07866-3

المؤلفون: Materna, Marie, Delmonte, Ottavia M., Bosticardo, Marita, Momenilandi, Mana, Conrey, Peyton E., Charmeteau-De Muylder, Benedicte, Bravetti, Clotilde, Bellworthy, Rebecca, Cederholm, Axel, Staels, Frederik, Ganoza, Christian A., Darko, Samuel, Sayed, Samir, Le Floc'h, Corentin, Ogishi, Masato, Rinchai, Darawan, Guenoun, Andrea, Bolze, Alexandre, Khan, Taushif, Gervais, Adrian, Krueger, Renate, Voeller, Mirjam, Palterer, Boaz, Sadeghi-Shabestari, Mahnaz, de Septenville, Anne Langlois, Schramm, Chaim A., Shah, Sanjana, Tello-Cajiao, John J., Pala, Francesca, Amini, Kayla, Campos, Jose S., Lima, Noemia Santana, Eriksson, Daniel, Levy, Romain, Seeleuthner, Yoann, Jyonouchi, Soma, Ata, Manar, Al Ali, Fatima, Deswarte, Caroline, Pereira, Anais, Megret, Jerome, Le Voyer, Tom, Bastard, Paul, Berteloot, Laureline, Dussiot, Michael, Vladikine, Natasha, Cardenas, Paula P., Jouanguy, Emmanuelle, Alqahtani, Mashael, Hasan, Amal, Thanaraj, Thangavel Alphonse, Rosain, Jeremie, Al Qureshah, Fahd, Sabato, Vito, Alyanakian, Marie Alexandra, Leruez-Ville, Marianne, Rozenberg, Flore, Haddad, Elie, Regueiro, Jose R., Toribio, Maria L., Kelsen, Judith R., Salehi, Mansoor, Nasiri, Shahram, Torabizadeh, Mehdi, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Vatandoost, Nasimeh, Moravej, Hossein, Akrami, Seyed Mohammad, Mazloomrezaei, Mohsen, Cobat, Aurelie, Meyts, Isabelle, Toyofuku, Etsushi, Nishimura, Madoka, Moriya, Kunihiko, Mizukami, Tomoyuki, Imai, Kohsuke, Abel, Laurent, Malissen, Bernard, Al-Mulla, Fahd, Alkuraya, Fowzan Sami, Parvaneh, Nima, von Bernuth, Horst, Beetz, Christian, Davi, Frederic, Douek, Daniel C., Cheynier, Remi, Langlais, David, Landegren, Nils, Marr, Nico, Morio, Tomohiro, Shahrooei, Mohammad, Schrijvers, Rik, Henrickson, Sarah E., Luche, Herve, Notarangelo, Luigi D., Casanova, Jean-Laurent, Beziat, Vivien

المصدر: 0036-8075 ; Science

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/001190818400035

الاتاحة: https://hdl.handle.net/10067/2071180151162165141
https://repository.uantwerpen.be/docstore/d:irua:24556