المؤلفون: Arias, Andrés A.^{Aff1, Aff2, Aff3}, Neehus, Anna-Lena^{Aff4, Aff5, IDs41586024078663_cor2}, Ogishi, Masato, Meynier, Vincent^{Aff4, Aff5}, Krebs, Adam^{Aff6, Aff7}, Lazarov, Tomi^{Aff6, Aff7}, Lee, Angela M.^{Aff7, Aff8}, Arango-Franco, Carlos A.^{Aff1, Aff4, Aff5}, Yang, Rui, Orrego, Julio, Corcini Berndt, Melissa^{Aff4, Aff5}, Rojas, Julian, Li, Hailun^{Aff4, Aff5}, Rinchai, Darawan, Erazo-Borrás, Lucia^{Aff1, Aff4, Aff5}, Han, Ji Eun, Pillay, Bethany^{Aff9, Aff10}, Ponsin, Khoren, Chaldebas, Matthieu^{Aff3, Aff5}, Philippot, Quentin^{Aff4, Aff5}, Bohlen, Jonathan^{Aff4, Aff5}, Rosain, Jérémie^{Aff4, Aff5, Aff11}, Le Voyer, Tom^{Aff4, Aff5, Aff12}, Janotte, Till^{Aff4, Aff5}, Amarajeeva, Krishnajina^{Aff4, Aff5}, Soudée, Camille^{Aff4, Aff5}, Brollo, Marion, Wiegmann, Katja, Marquant, Quentin, Seeleuthner, Yoann^{Aff4, Aff5}, Lee, Danyel^{Aff3, Aff4, Aff5}, Lainé, Candice^{Aff4, Aff5}, Kloos, Doreen^{Aff15, Aff16}, Bailey, Rasheed, Bastard, Paul^{Aff3, Aff4, Aff5, Aff17}, Keating, Narelle^{Aff3, Aff18, Aff19}, Rapaport, Franck, Khan, Taushif, Moncada-Vélez, Marcela^{Aff1, Aff3}, Carmona, María Camila, Obando, Catalina, Alvarez, Jesús, Cataño, Juan Carlos, Martínez-Rosado, Larry Luber, Sanchez, Juan P., Tejada-Giraldo, Manuela, L’Honneur, Anne-Sophie, Agudelo, María L., Perez-Zapata, Lizet J., Arboleda, Diana M., Alzate, Juan Fernando, Cabarcas, Felipe^{Aff24, Aff25}, Zuluaga, Alejandra, Pelham, Simon J., Ensser, Armin, Schmidt, Monika, Velásquez-Lopera, Margarita M.^{Aff28, Aff29}, Jouanguy, Emmanuelle^{Aff3, Aff4, Aff5}, Puel, Anne^{Aff3, Aff4, Aff5}, Krönke, Martin^{Aff14, Aff30}, Ghirardello, Stefano, Borghesi, Alessandro^{Aff31, Aff32}, Pahari, Susanta, Boisson, Bertrand^{Aff3, Aff4, Aff5}, Pittaluga, Stefania, Ma, Cindy S.^{Aff9, Aff10}, Emile, Jean-François, Notarangelo, Luigi D., Tangye, Stuart G.^{Aff9, Aff10}, Marr, Nico^{Aff37, Aff38}, Lachmann, Nico^{Aff15, Aff16, Aff39, Aff40}, Salvator, Hélène^{Aff12, Aff41, Aff42}, Schlesinger, Larry S., Zhang, Peng^{Aff3, Aff4, Aff5}, Glickman, Michael S.^{Aff6, Aff7}, Nathan, Carl F.^{Aff7, Aff8}, Geissmann, Frédéric^{Aff6, Aff7}, Abel, Laurent^{Aff3, Aff4, Aff5}, Franco, José Luis^{Aff1, IDs41586024078663_cor79}, Bustamante, Jacinta^{Aff3, Aff4, Aff5, Aff11}, Casanova, Jean-Laurent^{Aff3, Aff4, Aff5, Aff43, Aff44, IDs41586024078663_cor81}, Boisson-Dupuis, Stéphanie^{Aff3, Aff4, Aff5}

المصدر: Nature: International weekly journal of science. 633(8029):417-425

المؤلفون: Chan, Yi-Hao^{Aff1, IDs4158602407745x_cor1}, Liu, Zhiyong, Bastard, Paul^{Aff1, Aff2, Aff3, Aff4}, Khobrekar, Noopur, Hutchison, Kennen M., Yamazaki, Yasuhiro, Fan, Qing, Matuozzo, Daniela^{Aff2, Aff4}, Harschnitz, Oliver^{Aff5, Aff8}, Kerrouche, Nacim, Nakajima, Koji^{Aff1, Aff2, Aff4}, Amin, Param, Yatim, Ahmad, Rinchai, Darawan, Chen, Jie, Zhang, Peng, Ciceri, Gabriele, Chen, Jia, Dobbs, Kerry, Belkaya, Serkan^{Aff1, Aff9}, Lee, Danyel^{Aff1, Aff2, Aff4}, Gervais, Adrian^{Aff1, Aff2, Aff4}, Aydın, Kürşad, Kartal, Ayse, Hasek, Mary L., Zhao, Shuxiang, Reino, Eduardo Garcia, Lee, Yoon Seung, Seeleuthner, Yoann^{Aff2, Aff4}, Chaldebas, Matthieu, Bailey, Rasheed, Vanhulle, Catherine, Lorenzo, Lazaro^{Aff2, Aff4}, Boucherit, Soraya^{Aff2, Aff4}, Rozenberg, Flore, Marr, Nico, Mogensen, Trine H.^{Aff15, Aff16, Aff17}, Aubart, Mélodie^{Aff2, Aff4, Aff18}, Cobat, Aurélie^{Aff1, Aff2, Aff4}, Dulac, Olivier, Emiroglu, Melike, Paludan, Søren R.^{Aff15, Aff17, Aff21}, Abel, Laurent^{Aff1, Aff2, Aff4}, Notarangelo, Luigi, Longnecker, Richard, Smith, Greg, Studer, Lorenz, Casanova, Jean-Laurent^{Aff1, Aff2, Aff3, Aff4, Aff22, IDs4158602407745x_cor48}, Zhang, Shen-Ying^{Aff1, Aff2, Aff4, IDs4158602407745x_cor49}

المصدر: Nature: International weekly journal of science. 632(8024):390-400

المؤلفون: Rosain, Jérémie^{Aff1, Aff2, Aff3, IDs10875024016615_cor1}, Kiykim, Ayca, Michev, Alexandre^{Aff1, Aff5}, Kendir-Demirkol, Yasemin^{Aff6, Aff7}, Rinchai, Darawan, Peel, Jessica N., Li, Hailun^{Aff1, Aff2}, Ocak, Suheyla, Ozdemir, Pinar Gokmirza, Le Voyer, Tom^{Aff1, Aff2, Aff10}, Philippot, Quentin^{Aff1, Aff2}, Khan, Taushif, Neehus, Anna-Lena^{Aff1, Aff2}, Migaud, Mélanie^{Aff1, Aff2}, Soudée, Camille^{Aff1, Aff2}, Boisson-Dupuis, Stéphanie^{Aff1, Aff2, Aff6}, Marr, Nico^{Aff11, Aff12}, Borghesi, Alessandro, Casanova, Jean-Laurent^{Aff1, Aff2, Aff6, Aff14, Aff15}, Bustamante, Jacinta^{Aff1, Aff2, Aff3, Aff6, IDs10875024016615_cor20}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 44(3)

المؤلفون: Momenilandi, Mana, Lévy, Romain, Sobrino, Steicy, Li, Jingwei, Lagresle-Peyrou, Chantal, Esmaeilzadeh, Hossein, Fayand, Antoine, Le Floc’h, Corentin, Guérin, 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, Sébastien, 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

المصدر: In Cell 23 May 2024 187(11):2817-2837

المؤلفون: Abolhassani, Hassan, Landegren, Nils, 1986, Bastard, Paul, Materna, Marie, Modaresi, Mohammadreza, Du, Likun, Aranda-Guillen, Maribel, Sardh, Fabian, Zuo, Fanglei, Zhang, Peng, Marcotte, Harold, Marr, Nico, Khan, Taushif, Ata, Manar, Al-Ali, Fatima, Pescarmona, Remi, Belot, Alexandre, Beziat, Vivien, Zhang, Qian, Casanova, Jean-Laurent, Kämpe, Olle, Zhang, Shen-Ying, Hammarström, Lennart, Pan-Hammarström, Qiang

المصدر: Journal of Clinical Immunology. 42(3):471-483

مصطلحات موضوعية: COVID-19, critical pneumonia, multisystem inflammatory syndrome in children (MIS-C), inborn errors of immunity (IEI), primary immunodeficiency (PID), IFNAR1

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-485915
https://doi.org/10.1007/s10875-022-01215-7
https://uu.diva-portal.org/smash/get/diva2:1704260/FULLTEXT01.pdf

المؤلفون: Asano, Takaki, Khourieh, Joëlle, Zhang, Peng, Rapaport, Franck, Spaan, András N, Li, Juan, Lei, Wei-Te, Pelham, Simon J, Hum, David, Chrabieh, Maya, Han, Ji Eun, Guérin, Antoine, Mackie, Joseph, Gupta, Sudhir, Saikia, Biman, Baghdadi, Jamila EI, 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, Stéphanie, Zhang, Qian, Puel, Anne, Béziat, Vivien, Casanova, Jean-Laurent, Boisson, Bertrand

المصدر: Journal of Experimental Medicine. 218(8)

مصطلحات موضوعية: Rare Diseases, Genetics, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Alleles, Alternative Splicing, Child, Child, Preschool, Codon, Nonsense, Evolution, Molecular, Family, Female, Frameshift Mutation, Genes, Dominant, Genetics, Population, HEK293 Cells, Humans, Infant, Infant, Newborn, Job Syndrome, Male, Middle Aged, Mutation, Pedigree, Protein Biosynthesis, RNA, Messenger, STAT3 Transcription Factor, Medical and Health Sciences, Immunology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9844326w

المؤلفون: Neehus, Anna-Lena, Carey, Brenna, Landekic, Marija, Panikulam, Patricia, Deutsch, Gail, Ogishi, Masato, Arango-Franco, Carlos A., Philippot, Quentin, Modaresi, Mohammadreza, Mohammadzadeh, Iraj, Corcini Berndt, Melissa, Rinchai, Darawan, Le Voyer, Tom, Rosain, Jérémie, Momenilandi, Mana, Martin-Fernandez, Marta, Khan, Taushif, Bohlen, Jonathan, Han, Ji Eun, Deslys, Alexandre, Bernard, Mathilde, Gajardo-Carrasco, Tania, Soudée, Camille, Le Floc’h, Corentin, Migaud, Mélanie, Seeleuthner, Yoann, Jang, Mi-Sun, Nikolouli, Eirini, Seyedpour, Simin, Begueret, Hugues, Emile, Jean-François, Le Guen, Pierre, Tavazzi, Guido, Colombo, Costanza Natalia Julia, Marzani, Federico Capra, Angelini, Micol, Trespidi, Francesca, Ghirardello, Stefano, Alipour, Nasrin, Molitor, Anne, Carapito, Raphael, Mazloomrezaei, Mohsen, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Brouzes, Chantal, Vargas, Pablo, Borghesi, Alessandro, Lachmann, Nico, Bahram, Seiamak, Crestani, Bruno, Fayon, Michael, Galode, François, Pahari, Susanta, Schlesinger, Larry S., Marr, Nico, Bogunovic, Dusan, Boisson-Dupuis, Stéphanie, Béziat, Vivien, Abel, Laurent, Borie, Raphael, Young, Lisa R., Deterding, Robin, Shahrooei, Mohammad, Rezaei, Nima, Parvaneh, Nima, Craven, Daniel, Gros, Philippe, Malo, Danielle, Sepulveda, Fernando E., Nogee, Lawrence M., Aladjidi, Nathalie, Trapnell, Bruce C., Casanova, Jean-Laurent, Bustamante, Jacinta

المصدر: In Cell 18 January 2024 187(2):390-408

المؤلفون: Bohlen, Jonathan, Zhou, Qinhua, Philippot, Quentin, Ogishi, Masato, Rinchai, Darawan, Nieminen, Tea, Seyedpour, Simin, Parvaneh, Nima, Rezaei, Nima, Yazdanpanah, Niloufar, Momenilandi, Mana, Conil, Clément, Neehus, Anna-Lena, Schmidt, Carltin, Arango-Franco, Carlos A., Voyer, Tom Le, Khan, Taushif, Yang, Rui, Puchan, Julia, Erazo, Lucia, Roiuk, Mykola, Vatovec, Taja, Janda, Zarah, Bagarić, Ivan, Materna, Marie, Gervais, Adrian, Li, Hailun, Rosain, Jérémie, Peel, Jessica N, Seeleuthner, Yoann, Han, Ji Eun, L’Honneur, Anne-Sophie, Moncada-Vélez, Marcela, Martin-Fernandez, Marta, Horesh, Michael E., Kochetkov, Tatiana, Schmidt, Monika, AlShehri, Mohammed A., Salo, Eeva, Saxen, Harri, ElGhazali, Gehad, Yatim, Ahmad, Soudée, Camille, Sallusto, Federica, Ensser, Armin, Marr, Nico, Zhang, Peng, Bogunovic, Dusan, Cobat, Aurélie, Shahrooei, Mohammad, Béziat, Vivien, Abel, Laurent, Wang, Xiaochuan, Boisson-Dupuis, Stéphanie, Teleman, Aurelio A., Bustamante, Jacinta, Zhang, Qian, Casanova, Jean-Laurent

المصدر: In Cell 9 November 2023 186(23):5114-5134

المؤلفون: Khan, Taushif, Ledoux, Isabella Marie, Aziz, Ferdousey, Al Ali, Fatima, Chin-Smith, Evonne, Ata, Manar, Karim, Mohammed Yousuf, Marr, Nico

المصدر: In Journal of Allergy and Clinical Immunology: Global August 2023 2(3)

المؤلفون: Le Voyer, Tom, Neehus, Anna-Lena, Yang, Rui, Ogishi, Masato, Rosain, Jérémie, Alroqi, Fayhan, Alshalan, Maha, Blumental, Sophie, Ali, Fatima Al, Khan, Taushif, Ata, Manar, Rozen, Laurence, Demulder, Anne, Bastard, Paul, Gruber, Conor, Roynard, Manon, Seeleuthener, Yoann, Rapaport, Franck, Bigio, Benedetta, Chrabieh, Maya, Sng, Danielle, Berteloot, Laureline, Boddaert, Nathalie, Rozenberg, Flore, Al-Muhsen, Saleh, Bertoli-Avella, Aida, Abel, Laurent, Bogunovic, Dusan, Marr, Nico, Mansouri, Davood, Mutairi, Fuad Al, Béziat, Vivien, Weil, Dominique, Mahdaviani, Seyed Alireza, Ferster, Alina, Zhang, Shen-Ying, Reversade, Bruno, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2021 Apr . 118(15), 1-12.

URL الوصول: https://www.jstor.org/stable/27040132