Deep immunophenotyping shows altered immune cell subsets in CTLA‐4 haploinsufficiency
Maiarana, James, Moncada‐Velez, Marcela, Malbran, Eloisa, Torre, Maria Gabriela, Elonen, Carissa, Malbran, Alejandro, Markle, Janet G.
Published in Pediatric allergy and immunology (01.07.2023)
Published in Pediatric allergy and immunology (01.07.2023)
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Journal Article
Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency
Bogunovic, Dusan, Byun, Minji, Durfee, Larissa A., Abhyankar, Avinash, Sanal, Ozden, Mansouri, Davood, Salem, Sandra, Radovanovic, Irena, Grant, Audrey V., Adimi, Parisa, Mansouri, Nahal, Okada, Satoshi, Bryant, Vanessa L., Kong, Xiao-Fei, Kreins, Alexandra, Velez, Marcela Moncada, Boisson, Bertrand, Khalilzadeh, Soheila, Ozcelik, Ugur, Darazam, Ilad Alavi, Schoggins, John W., Rice, Charles M., Al-Muhsen, Saleh, Behr, Marcel, Vogt, Guillaume, Puel, Anne, Bustamante, Jacinta, Gros, Philippe, Huibregtse, Jon M., Abel, Laurent, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent
Published in Science (American Association for the Advancement of Science) (28.09.2012)
Published in Science (American Association for the Advancement of Science) (28.09.2012)
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Journal Article
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency
Brigida, Immacolata, Zoccolillo, Matteo, Cicalese, Maria Pia, Pfajfer, Laurène, Barzaghi, Federica, Scala, Serena, Oleaga-Quintas, Carmen, Álvarez-Álvarez, Jesus A., Sereni, Lucia, Giannelli, Stefania, Sartirana, Claudia, Dionisio, Francesca, Pavesi, Luca, Benavides-Nieto, Marta, Basso-Ricci, Luca, Capasso, Paola, Mazzi, Benedetta, Rosain, Jeremie, Marcus, Nufar, Lee, Yu Nee, Somech, Raz, Degano, Massimo, Raiola, Giuseppe, Caorsi, Roberta, Picco, Paolo, Moncada Velez, Marcela, Khourieh, Joelle, Arias, Andrés Augusto, Bousfiha, Aziz, Issekutz, Thomas, Issekutz, Andrew, Boisson, Bertrand, Dobbs, Kerry, Villa, Anna, Lombardo, Angelo, Neven, Benedicte, Moshous, Despina, Casanova, Jean-Laurent, Franco, José Luis, Notarangelo, Luigi D., Scielzo, Cristina, Volpi, Stefano, Dupré, Loïc, Bustamante, Jacinta, Gattorno, Marco, Aiuti, Alessandro
Published in Blood (29.11.2018)
Published in Blood (29.11.2018)
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Journal Article
The human gene damage index as a gene-level approach to prioritizing exome variants
Itan, Yuval, Shang, Lei, Boisson, Bertrand, Patin, Etienne, Bolze, Alexandre, Moncada-Vélez, Marcela, Scott, Eric, Ciancanelli, Michael J., Lafaille, Fabien G., Markle, Janet G., Martinez-Barricarte, Ruben, de Jong, Sarah Jill, Kong, Xiao-Fei, Nitschke, Patrick, Belkadi, Aziz, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Stenson, Peter D., Gleeson, Joseph G., Cooper, David N., Quintana-Murci, Lluis, Claverie, Jean-Michel, Zhang, Shen-Ying, Abel, Laurent, Casanova, Jean-Laurent
Published in Proceedings of the National Academy of Sciences - PNAS (03.11.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (03.11.2015)
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Journal Article
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites
Zhang, Peng, Chaldebas, Matthieu, Ogishi, Masato, Al Qureshah, Fahd, Ponsin, Khoren, Feng, Yi, Rinchai, Darawan, Milisavljevic, Baptiste, Han, Ji Eun, Moncada-Vélez, Marcela, Keles, Sevgi, Schröder, Bernd, Stenson, Peter D, Cooper, David N, Cobat, Aurélie, Boisson, Bertrand, Zhang, Qian, Boisson-Dupuis, Stéphanie, Abel, Laurent, Casanova, Jean-Laurent
Published in Proceedings of the National Academy of Sciences - PNAS (14.11.2023)
Published in Proceedings of the National Academy of Sciences - PNAS (14.11.2023)
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Journal Article
Anti-GM-CSF Neutralizing Autoantibodies in Colombian Patients with Disseminated Cryptococcosis
Arango-Franco, Carlos A., Migaud, Mélanie, Ramírez-Sánchez, Isabel Cristina, Arango-Bustamante, Karen, Moncada-Vélez, Marcela, Rojas, Julián, Gervais, Adrian, Patiño-Giraldo, Santiago, Perez-Zapata, Lizeth J., Álvarez Álvarez, Jesús A., Orrego, Julio César, Roncancio-Villamil, Gustavo, Boisson-Dupuis, Stéphanie, Jouanguy, Emmanuelle, Abel, Laurent, Casanova, Jean-Laurent, Bustamante, Jacinta, Arias, Andrés A., Franco, José Luis, Puel, Anne
Published in Journal of clinical immunology (01.07.2023)
Published in Journal of clinical immunology (01.07.2023)
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Journal Article
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon
Oleaga-Quintas, Carmen, Deswarte, Caroline, Moncada-Vélez, Marcela, Metin, Ayse, Krishna Rao, Indumathi, Kanık-Yüksek, Saliha, Nieto-Patlán, Alejandro, Guérin, Antoine, Gülhan, Belgin, Murthy, Savita, Özkaya-Parlakay, Aslınur, Abel, Laurent, Martínez-Barricarte, Rubén, Pérez de Diego, Rebeca, Boisson-Dupuis, Stéphanie, Kong, Xiao-Fei, Casanova, Jean-Laurent, Bustamante, Jacinta
Published in Human molecular genetics (15.11.2018)
Published in Human molecular genetics (15.11.2018)
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Journal Article
Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient
Arango-Franco, Carlos A., Moncada-Vélez, Marcela, Beltrán, Claudia Patricia, Berrío, Indira, Mogollón, Cristian, Restrepo, Andrea, Trujillo, Mónica, Osorio, Sara Daniela, Castro, Lorena, Gómez, Lina Vanessa, Muñoz, Ana María, Molina, Verónica, del Río Cobaleda, Delsy Yurledy, Ruiz, Ana Cristina, Garcés, Carlos, Alzate, Juan Fernando, Cabarcas, Felipe, Orrego, Julio Cesar, Casanova, Jean-Laurent, Bustamante, Jacinta, Puel, Anne, Arias, Andrés Augusto, Franco, José Luis
Published in Journal of clinical immunology (01.10.2018)
Published in Journal of clinical immunology (01.10.2018)
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Journal Article
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon
Oleaga-Quintas, Carmen, Deswarte, Caroline, Moncada-Vélez, Marcela, Metin, Ayse, Krishna Rao, Indumathi, Kanık-Yüksek, Saliha, Nieto-Patlán, Alejandro, Guérin, Antoine, Gülhan, Belgin, Murthy, Savita, Özkaya-Parlakay, Aslınur, Abel, Laurent, Martínez-Barricarte, Rubén, Pérez de Diego, Rebeca, Boisson-Dupuis, Stéphanie, Kong, Xiao-Fei, Casanova, Jean-Laurent, Bustamante, Jacinta
Published in Human molecular genetics (01.02.2019)
Published in Human molecular genetics (01.02.2019)
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Journal Article
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation
Moncada-Vélez, Marcela, Martinez-Barricarte, Rubén, Bogunovic, Dusan, Kong, Xiao-Fei, Blancas-Galicia, Lizbeth, Tirpan, Cengiz, Aksu, Guzide, Vincent, Quentin B., Boisson, Bertrand, Itan, Yuval, Ramírez-Alejo, Noé, Okada, Satoshi, Kreins, Alexandra Y., Bryant, Vanessa L., Franco, Jose Luis, Migaud, Mélanie, Espinosa-Padilla, Sara, Yamazaki-Nakashimada, Marco, Espinosa-Rosales, Francisco, Kutukculer, Necil, Abel, Laurent, Bustamante, Jacinta, Vogt, Guillaume, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie
Published in Blood (03.10.2013)
Published in Blood (03.10.2013)
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Journal Article
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease
Kong, Xiao-Fei, Vogt, Guillaume, Itan, Yuval, Macura-Biegun, Anna, Szaflarska, Anna, Kowalczyk, Danuta, Chapgier, Ariane, Abhyankar, Avinash, Furthner, Dieter, Djambas Khayat, Claudia, Okada, Satoshi, Bryant, Vanessa L, Bogunovic, Dusan, Kreins, Alexandra, Moncada-Vélez, Marcela, Migaud, Mélanie, Al-Ajaji, Sulaiman, Al-Muhsen, Saleh, Holland, Steven M, Abel, Laurent, Picard, Capucine, Chaussabel, Damien, Bustamante, Jacinta, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie
Published in Human molecular genetics (15.02.2013)
Published in Human molecular genetics (15.02.2013)
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Journal Article
Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA
Lee, Alison Joanne, Moncada-Vélez, Marcela, Picard, Capucine, Llanora, Genevieve, Huang, Chiung-Hui, Abel, Laurent, Chan, Si Min, Lee, Bee-Wah, Casanova, Jean-Laurent, Bustamante, Jacinta, Shek, Lynette Pei-Chi, Boisson-Dupuis, Stéphanie
Published in Journal of clinical immunology (01.01.2016)
Published in Journal of clinical immunology (01.01.2016)
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Journal Article
Defective formation of IgA memory B cells, Th1 and Th17 cells in symptomatic patients with selective IgA deficiency
Grosserichter‐Wagener, Christina, Franco‐Gallego, Alexander, Ahmadi, Fatemeh, Moncada‐Vélez, Marcela, Dalm, Virgil ASH, Rojas, Jessica Lineth, Orrego, Julio César, Correa Vargas, Natalia, Hammarström, Lennart, Schreurs, Marco WJ, Dik, Willem A, Hagen, P Martin, Boon, Louis, Dongen, Jacques JM, Burg, Mirjam, Pan‐Hammarström, Qiang, Franco, José L, Zelm, Menno C
Published in Clinical & translational immunology (2020)
Published in Clinical & translational immunology (2020)
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Journal Article
Helper T cell immunity in humans with inherited CD4 deficiency
Guérin, Antoine, Moncada-Vélez, Marcela, Jackson, Katherine, Ogishi, Masato, Rosain, Jérémie, 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, Iracema Morais, Cátia, London, Jonathan, Mestrallet, Stéphanie, Quartier Dit Maire, Pierre, Neven, Bénédicte, Rapaport, Franck, Seeleuthner, Yoann, Lev, Atar, Simon, Amos J, Montoya, Jorge, Barel, Ortal, Gómez-Rodríguez, Julio, Orrego, Julio C, L'Honneur, Anne-Sophie, Soudée, Camille, Rojas, Jessica, Velez, Alejandra C, Sereti, Irini, Terrier, Benjamin, Marin, Nancy, García, Luis F, Abel, Laurent, Boisson-Dupuis, Stéphanie, Reis, Joel, Marinho, Antonio, Lisco, Andrea, Faria, Emilia, Goodnow, Christopher C, Vasconcelos, Julia, Béziat, Vivien, Ma, Cindy S, Somech, Raz, Casanova, Jean-Laurent, Bustamante, Jacinta, Franco, Jose Luis, Tangye, Stuart G
Published in The Journal of experimental medicine (06.05.2024)
Published in The Journal of experimental medicine (06.05.2024)
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Journal Article
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance
Oleaga-Quintas, Carmen, de Oliveira-Júnior, Edgar Borges, Rosain, Jérémie, Rapaport, Franck, Deswarte, Caroline, Guérin, Antoine, Sajjath, Sairaj Munavar, Zhou, Yu Jerry, Marot, Stéphane, Lozano, Claire, Branco, Lidia, Fernández-Hidalgo, Nuria, Lew, Dukhee Betty, Brunel, Anne-Sophie, Thomas, Caroline, Launay, Elise, Arias, Andrés Augusto, Cuffel, Alexis, Monjo, Vanesa Cunill, Neehus, Anna-Lena, Marques, Laura, Roynard, Manon, Moncada-Vélez, Marcela, Gerçeker, Bengü, Colobran, Roger, Vigué, Marie-Gabrielle, Lopez-Herrera, Gabriela, Berron-Ruiz, Laura, Méndez, Nora Hilda Segura, O’Farrill Romanillos, Patricia, Le Voyer, Tom, Puel, Anne, Bellanné-Chantelot, Christine, Ramirez, Kacy A., Lorenzo-Diaz, Lazaro, Alejo, Noé Ramirez, de Diego, Rebeca Pérez, Condino-Neto, Antonio, Mellouli, Fethi, Rodriguez-Gallego, Carlos, Witte, Torsten, Restrepo, José Franco, Jobim, Mariana, Boisson-Dupuis, Stéphanie, Jeziorski, Eric, Fieschi, Claire, Vogt, Guillaume, Donadieu, Jean, Pasquet, Marlène, Vasconcelos, Julia, Ardeniz, Fatma Omur, Martínez-Gallo, Mónica, Campos, Regis A., Jobim, Luiz Fernando, Martínez-Barricarte, Rubén, Liu, Kang, Cobat, Aurélie, Abel, Laurent, Casanova, Jean-Laurent, Bustamante, Jacinta
Published in Journal of clinical immunology (01.04.2021)
Published in Journal of clinical immunology (01.04.2021)
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Journal Article
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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Journal Article
A genome-wide arrayed CRISPR screen identifies PLSCR1 as an intrinsic barrier to SARS-CoV-2 entry that recent virus variants have evolved to resist
Le Pen, Jérémie, Paniccia, Gabrielle, Kinast, Volker, Moncada-Velez, Marcela, Ashbrook, Alison W, Bauer, Michael, Hoffmann, H-Heinrich, Pinharanda, Ana, Ricardo-Lax, Inna, Stenzel, Ansgar F, Rosado-Olivieri, Edwin A, Dinnon, 3rd, Kenneth H, Doyle, William C, Freije, Catherine A, Hong, Seon-Hui, Lee, Danyel, Lewy, Tyler, Luna, Joseph M, Peace, Avery, Schmidt, Carltin, Schneider, William M, Winkler, Roni, Yip, Elaine Z, Larson, Chloe, McGinn, Timothy, Menezes, Miriam-Rose, Ramos-Espiritu, Lavoisier, Banerjee, Priyam, Poirier, John T, Sànchez-Rivera, Francisco J, Cobat, Aurélie, Zhang, Qian, Casanova, Jean-Laurent, Carroll, Thomas S, Glickman, J Fraser, Michailidis, Eleftherios, Razooky, Brandon, MacDonald, Margaret R, Rice, Charles M
Published in PLoS biology (24.09.2024)
Published in PLoS biology (24.09.2024)
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Journal Article
Correction: Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
Campbell, Tessa Mollie, Liu, Zhiyong, Zhang, Qian, Moncada-Velez, Marcela, Covill, Laura E, Zhang, Peng, Darazam, Ilad Alavi, Bastard, Paul, Bizien, Lucy, Bucciol, Giorgia, Enoksson, Sara Lind, Jouanguy, Emmanuelle, Karabela, Şemsi Nur, Khan, Taushif, Kendir-Demirkol, Yasemin, Arias, Andres Augusto, Mansouri, Davood, Marits, Per, Marr, Nico, Migeotte, Isabelle, Moens, Leen, Ozcelik, Tayfun, Pellier, Isabelle, Sendel, Anton, Şenoğlu, Sevtap, Shahrooei, Mohammad, Smith, C I Edvard, Vandernoot, Isabelle, Willekens, Karen, Yaşar, Kadriye Kart, Bergman, Peter, Abel, Laurent, Cobat, Aurélie, Casanova, Jean-Laurent, Meyts, Isabelle, Bryceson, Yenan T
Published in The Journal of experimental medicine (05.12.2022)
Published in The Journal of experimental medicine (05.12.2022)
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Journal Article
Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient
Glanzmann, Brigitte, Möller, Marlo, Moncada-Velez, Marcela, Peter, Jonny, Urban, Michael, van Helden, Paul D., Hoal, Eileen G., de Villiers, Nikola, Glashoff, Richard H., Nortje, Rina, Bustamante, Jacinta, Abel, Laurent, Casanova, Jean-Laurent, Boisson-Dupuis, Stephanie, Esser, Monika, Kinnear, Craig J.
Published in Journal of clinical immunology (01.05.2018)
Published in Journal of clinical immunology (01.05.2018)
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Journal Article
Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency
Arias, Andrés Augusto, Perez-Velez, Carlos M., Orrego, Julio César, Moncada-Velez, Marcela, Rojas, Jessica Lineth, Wilches, Alejandra, Restrepo, Andrea, Trujillo, Mónica, Garcés, Carlos, Arango-Ferreira, Catalina, González, Natalia, Oleaga-Quintas, Carmen, Fernández, Diana, Isaza-Correa, Johana Marcela, Gongóra, Diego Eduardo, Gonzalez-Loaiza, Daniel, Sierra, Juan Esteban, Casanova, Jean Laurent, Bustamante, Jacinta, Franco, José Luis
Published in Journal of clinical immunology (01.10.2017)
Published in Journal of clinical immunology (01.10.2017)
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