المؤلفون: McDonnell, John^{Aff1, IDs10875023016135_cor1}, Cousins, Kimberley, Younger, M. Elizabeth M., Lane, Adam^{Aff3, Aff4}, Abolhassani, Hassan^{Aff5, Aff6}, Abraham, Roshini S.^{Aff7, Aff8}, Al-Tamemi, Salem, Aldave-Becerra, Juan Carlos, Al-Faris, Eman Hesham, Alfaro-Murillo, Alberto, AlKhater, Suzan A.^{Aff13, Aff14}, Alsaati, Nouf, Doss, Alexa Michelle Altman, Anderson, Melissa, Angarola, Ernestina, Ariue, Barbara, Arnold, Danielle E., Assa’ad, Amal H., Aytekin, Caner, Bank, Meaghan, Bergerson, Jenna R. E., Bleesing, Jack^{Aff3, Aff4}, Boesing, John, Bouso, Carolina, Brodszki, Nicholas, Cabanillas, Diana, Cady, Carol, Callahan, Meghan A., Caorsi, Roberta, Carbone, Javier, Carrabba, Maria, Castagnoli, Riccardo^{Aff34, Aff35}, Catanzaro, Jason R., Chan, Samantha, Chandra, Sharat^{Aff3, Aff4}, Chapdelaine, Hugo, Chavoshzadeh, Zahra, Chong, Hey Jin, Connors, Lori, Consonni, Filippo, Correa-Jimenez, Oscar, Cunningham-Rundles, Charlotte, D’Astous-Gauthier, Katherine, Delmonte, Ottavia Maria, Demirdag, Yesim Yilmaz, Deshpande, Deepti R., Diaz-Cabrera, Natalie M., Dimitriades, Victoria R., El-Owaidy, Rasha, ElGhazali, Gehad, Al-Hammadi, Suleiman, Fabio, Giovanna, Faure, Astrid Schellnast, Feng, Jin, Fernandez, James M., Fill, Lauren, Franco, Guacira R., Frenck, Robert W.^{Aff4, Aff57}, Fuleihan, Ramsay L., Giardino, Giuliana, Galant-Swafford, Jessica, Gambineri, Eleonora^{Aff42, Aff61}, Garabedian, Elizabeth K., Geerlinks, Ashley V., Goudouris, Ekaterini, Grecco, Octavio, Pan-Hammarström, Qiang, Khani, Hedieh Haji Khodaverdi, Hammarström, Lennart, Hartog, Nicholas L., Heimall, Jennifer, Hernandez-Molina, Gabriela, Horner, Caroline C., Hostoffer, Robert W., Hristova, Nataliya, Hsiao, Kuang-Chih^{Aff70, Aff71, Aff72}, Ivankovich-Escoto, Gabriela, Jaber, Faris, Jalil, Maaz, Jamee, Mahnaz, Jean, Tiffany, Jeong, Stephanie, Jhaveri, Devi, Jordan, Michael B.^{Aff3, Aff4, Aff77}, Joshi, Avni Y., Kalkat, Amanpreet, Kanarek, Henry J., Kellner, Erinn S., Khojah, Amer, Khoury, Ruby^{Aff3, Aff4}, Kokron, Cristina M., Kumar, Ashish^{Aff3, Aff4}, Lecerf, Kelsey, Lehman, Heather K., Leiding, Jennifer W., Lesmana, Harry, Lim, Xin Rong, Lopes, Joao Pedro, López, Ana Laura, Tarquini, Lucia, Lundgren, Ingrid S., Magnusson, Julieann, Marinho, Ana Karolina B. B., Marseglia, Gian Luigi, Martone, Giulia M., Mechtler, Annamaria G., Mendonca, Leonardo^{Aff56, Aff93}, Milner, Joshua D., Mustillo, Peter J., Naderi, Asal Gharib, Naviglio, Samuele, Nell, Jeremy, Niebur, Hana B., Notarangelo, Luigi, Oleastro, Matias, Ortega-López, María Claudia, Patel, Neil R., Petrovic, Gordana, Pignata, Claudio, Porras, Oscar, Prince, Benjamin T., Puck, Jennifer M., Qamar, Nashmia, Rabusin, Marco, Raje, Nikita, Regairaz, Lorena, Risma, Kimberly A., Ristagno, Elizabeth H., Routes, John, Roxo-Junior, Persio, Salemi, Negin, Scalchunes, Christopher, Schuval, Susan J., Seneviratne, Suranjith L., Shankar, Ashwin, Sherkat, Roya, Shin, Junghee Jenny, Siddiqi, Abeer, Signa, Sara, Sobh, Ali, Lima, Fabiana Mascarenhas Souza, Stenehjem, Kristen K., Tam, Jonathan S., Tang, Monica, Barros, Myrthes Toledo, Verbsky, James, Vergadi, Eleni, Voelker, Dayne H., Volpi, Stefano^{Aff123, Aff31}, Wall, Luke A., Wang, Christine, Williams, Kelli W., Wu, Eveline Y., Wu, Shan Shan^{Aff128, Aff129}, Zhou, Jessie J., Cook, Alexandria, Sullivan, Kathleen E., Marsh, Rebecca^{Aff3, Aff4}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 44(4)

المؤلفون: Ivarola, Paula, Urdinez, Luciano, Oleastro, Matias, Labonia, Danila, Roizen, Mariana, Caraballo, Roberto, Tenembaum, Silvia

المصدر: In Pediatric Neurology September 2024 158:49-56

المؤلفون: Urdinez, Luciano^{Aff1, IDs10875022013596_cor1}, Goris, Veronica, Danielian, Silvia, Oleastro, Matias

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 43(1):65-68

المؤلفون: Rosain, Jérémie^{Aff1, Aff2}, Bernasconi, Andrea, Prieto, Emma, Caputi, Lucia, Le Voyer, Tom^{Aff1, Aff2}, Buda, Guadalupe^{Aff4, Aff5, Aff6}, Marti, Marcelo^{Aff4, Aff5, Aff6}, Bohlen, Jonathan^{Aff1, Aff2}, Neehus, Anna-Lena^{Aff1, Aff2}, Castaños, Claudio, Gallagher, Rosario, Dorgham, Karim, Oleastro, Matias, Perez, Laura, Danielian, Silvia, Dipierri, Jose Edgardo, Casanova, Jean-Laurent^{Aff1, Aff2, Aff11, Aff12, Aff13}, Bustamante, Jacinta^{Aff1, Aff2, Aff11, Aff14, IDs10875022012504_cor18}, Villa, Mariana

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 42(5):975-985

المؤلفون: Sbihi, Zineb, Tanita, Kay, Bachelet, Camille^{Aff1, Aff3}, Bole, Christine, Jabot-Hanin, Fabienne^{Aff4, Aff5}, Tores, Frederic^{Aff4, Aff5}, Le Loch, Marc, Khodr, Radi, Hoshino, Akihiro, Lenoir, Christelle, Oleastro, Matias, Villa, Mariana, Spossito, Lucia, Prieto, Emma, Danielian, Silvia, Brunet, Erika, Picard, Capucine^{Aff1, Aff3, Aff9}, Taga, Takashi, Abdrabou, Shimaa Said Mohamed Ali, Isoda, Takeshi, Yamada, Masafumi, Palma, Alejandro, Kanegane, Hirokazu, Latour, Sylvain^{Aff1, Aff3, IDs1087502101188z_cor24}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 42(3):559-571

المؤلفون: Kermasson, Laëtitia, Churikov, Dmitri, Awad, Aya, Smoom, Riham, Lainey, Elodie, Touzot, Fabien, Audebert-Bellanger, Séverine, Haro, Sophie, Roger, Lauréline, Costa, Emilia, Mouf, Maload, Bottero, Adriana, Oleastro, Matias, Abdo, Chrystelle, de Villartay, Jean-Pierre, Géli, Vincent, Tzfati, Yehuda, Callebaut, Isabelle, Danielian, Silvia, Soares, Gabriela, Kannengiesser, Caroline, Revy, Patrick ^*

المصدر: In Blood 21 April 2022 139(16):2427-2440

المؤلفون: Urdinez, Luciano^{Aff1, IDs10875021011250_cor1}, Goris, Veronica, Falbo, Jorgelina, Oleastro, Matias, Danielian, Silvia

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 41(8):1960-1963

المؤلفون: Bolze, Alexandre, Boisson, Bertrand, Bosch, Barbara, Antipenko, Alexander, Bouaziz, Matthieu, Sackstein, Paul, Chaker-Margot, Malik, Barlogis, Vincent, Briggs, Tracy, Colino, Elena, Elmore, Aurora C, Fischer, Alain, Genel, Ferah, Hewlett, Angela, Jedidi, Maher, Kelecic, Jadranka, Krüger, Renate, Ku, Cheng-Lung, Kumararatne, Dinakantha, Lefevre-Utile, Alain, Loughlin, Sam, Mahlaoui, Nizar, Markus, Susanne, Garcia, Juan-Miguel, Nizon, Mathilde, Oleastro, Matias, Pac, Malgorzata, Picard, Capucine, Pollard, Andrew J, Rodriguez-Gallego, Carlos, Thomas, Caroline, Von Bernuth, Horst, Worth, Austen, Meyts, Isabelle, Risolino, Maurizio, Selleri, Licia, Puel, Anne, Klinge, Sebastian, Abel, Laurent, Casanova, Jean-Laurent

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 115(34)

مصطلحات موضوعية: Clinical Research, Human Genome, Pediatric, Genetics, 2.1 Biological and endogenous factors, Aetiology, 5' Untranslated Regions, Exons, Female, Founder Effect, Heterozygote, Humans, Immunologic Deficiency Syndromes, Male, Mutation, Penetrance, Primary Immunodeficiency Diseases, Protein Biosynthesis, RNA Splicing, Receptors, Laminin, Ribosomal Proteins, Spleen, isolated congenital asplenia, spleen, incomplete penetrance, ribosomopathy, RPSA

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/98v9d6fv

المؤلفون: Lévy, Romain, Okada, Satoshi, Béziat, Vivien, Moriya, Kunihiko, Liu, Caini, Chai, Louis Yi Ann, Migaud, Mélanie, Hauck, Fabian, Al Ali, Amein, Cyrus, Cyril, Vatte, Chittibabu, Patiroglu, Turkan, Unal, Ekrem, Ferneiny, Marie, Hyakuna, Nobuyuki, Nepesov, Serdar, Oleastro, Matias, Ikinciogullari, Aydan, Dogu, Figen, Asano, Takaki, Ohara, Osamu, Yun, Ling, Della Mina, Erika, Bronnimann, Didier, Itan, Yuval, Gothe, Florian, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Tahuil, Natalia, Aytekin, Caner, Salhi, Aicha, Al Muhsen, Saleh, Kobayashi, Masao, Toubiana, Julie, Abel, Laurent, Li, Xiaoxia, Camcioglu, Yildiz, Celmeli, Fatih, Klein, Christoph, AlKhater, Suzan A, Casanova, Jean-Laurent, Puel, Anne

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 113(51)

مصطلحات موضوعية: Pediatric, Genetics, Clinical Research, Infectious Diseases, Rare Diseases, Emerging Infectious Diseases, Aetiology, 2.1 Biological and endogenous factors, Infection, Good Health and Well Being, Alleles, Bacterial Infections, Candida, Candidiasis, Cell Membrane, Child, Child, Preschool, Family Health, Female, Fibroblasts, Genes, Recessive, Genome-Wide Association Study, HEK293 Cells, Homozygote, Humans, Immunophenotyping, Infant, Infant, Newborn, Interleukin-17, Male, Mutation, Mycoses, Open Reading Frames, Pedigree, Receptors, Interleukin-17, Skin, T-Lymphocytes, genetics, immunodeficiency, candidiasis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9550v30b

المؤلفون: Bustamante Ogando, Juan Carlos, Partida Gaytán, Armando, Aldave Becerra, Juan Carlos, Álvarez Cardona, Aristóteles, Bezrodnik, Liliana, Borzutzky, Arturo, Blancas Galicia, Lizbeth, Cabanillas, Diana, Condino-Neto, Antonio, De Colsa Ranero, Agustín, Espinosa Padilla, Sara, Fernandes, Juliana Folloni, García Campos, Jorge Alberto, Gómez Tello, Héctor, González Serrano, María Edith, Gutiérrez Hernández, Alonso, Hernández Bautista, Víctor Manuel, Ivankovich Escoto, Gabriele, King, Alejandra, Lessa Mazzucchelli, Juliana, Llamas Guillén, Beatriz Adriana, Lugo Reyes, Saul Oswaldo, Moreno Espinosa, Sarbelio, Oleastro, Matías, Otero Mendoza, Francisco, Poli Harlowe, María Cecilia, Porras, Oscar, Ramirez Uribe, Nideshda, Regairaz, Lorean, Rivas Larrauri, Francisco, Saracho Weber, Federico José, Grumach, Anete S., Staines Boone, Tamara, Tavares Costa-Carvalho, Beatriz, Yamazaki Nakashimada, Marco Antonio, Espinosa Rosales, Francisco Javier

المصدر: In The Journal of Allergy and Clinical Immunology October 2019 144(4):897-905