Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema

Συγγραφείς: Batlle-Masó, Laura^{Aff1, Aff2, Aff3}, Neveling, Kornelia^Aff4, Gil-Serrano, Johana^{Aff5, Aff6}, Kamping, Eveline^Aff4, den Ouden, Amber^Aff4, Timmermans, Raoul^Aff4, Bruch-Tàrrega, Aina^{Aff5, Aff6}, Aguiló-Cucurull, Aina^{Aff1, Aff3, Aff7}, Perurena-Prieto, Janire^{Aff1, Aff3, Aff7}, Fernández-Álvarez, Paula^Aff8, Steehouwer, Marloes^Aff4, Hoischen, Alexander^{Aff4, Aff9}, Guilarte, Mar^{Aff5, Aff6}, Colobran, Roger^{Aff1, Aff3, Aff7, Aff8, Aff10, IDs1087502602015z_cor1}

Πηγή: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 46(1)

Transmission of F12-related hereditary angioedema through a sperm donor

Συγγραφείς: Marquès, Lluís, Batlle-Masó, Laura, Alcoceba, Eva, Lara, Silvia, Aguiló-Cucurull, Aina, Gil-Serrano, Johana, Guilarte, Mar, Colobran, Roger

Πηγή: Front Immunol

Θεματικοί όροι: Brief Research Report

Σύνδεσμος πρόσβασης: https://pmc.ncbi.nlm.nih.gov/articles/PMC13012989/
https://doi.org/10.3389/fimmu.2026.1799395
https://pubmed.ncbi.nlm.nih.gov/41890722/

Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity

Συγγραφείς: Moushib, Laith Ibrahim, Moreno-Ruiz, Nerea, Martín-Nalda, Andrea, Rivière, Jacques G., Urban, Blanca, Dieli-Crimi, Romina, Perurena-Prieto, Janire, Aguiló-Cucurull, Aina, Pérez-Estévez, Elena, Solanich, Xavier, Soler-Palacín, Pere, Colobran, Roger, Batlle-Masó, Laura

Πηγή: Front Genet

Θεματικοί όροι: Original Research

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/41853140/
https://pmc.ncbi.nlm.nih.gov/articles/PMC12995187/
https://doi.org/10.3389/fgene.2026.1713299

OAS1 and OAS3 genetic variants enhance inflammatory responses to SARS-CoV-2

Συγγραφείς: DeDiego, Marta L., López-Fernández-Sobrino, Raúl, Pedragosa, Jordi, López-García, Darío, Nogales, Aitor, Durbán, Jordi, Cardona, Fernando, Llucià-Carol, Laia, Rivero, Vanessa, Vazquez-Utrilla, Paula, Palomo Sanchez-Grande, Laura, Cobo, Miriam, Lloret, Lara, Márquez-Kisinousky, Leonardo, Ruiz-Jaén, Francisca, Lozano, Francisco, Sibila Vidal, Oriol, Faner, Rosa, Castro Rebollo, Pedro, Domingo, Carlos, Robles, Verónica, Bedini, Josep L., Rico, Verónica, Aguero, Daiana, Soriano Viladomiu, Alex, Martín Nalda, Andrea, Parra Martínez, Alba, Colobran, Roger, Soler-Palacín, Pere, Serra-Llovich, Alexandre, Dietl, Beatriz, Arranz, M. Jesús, Dalmau, David, Signes-Costa, Jaime, Gil-Carbonell, Joan, Todolí, José, Martínez, Jacobo, Rojo, Silvia, Fiz-López, Aida, Arribas, Elisa, Cal-Sabater, Paloma, Bernado, David, Vogel, Marina, Wiemann, Stefan, Abolhassani, Hassan, Pan-Hammarström, Qiang, Pujol, Aurora, COVID Human Genetic Effort, Su, Helen C., Lee, Danyel, Zhang, Shen-Ying, Casanova, Jean-Laurent, Fernández-Cadenas, Israel, Pérez-Tur, Jordi, Planas Obradors, Anna Maria

Πηγή: Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

Θεματικοί όροι: Immunology, Genetics, Immunologia, Genètica

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://hdl.handle.net/2445/227290

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

Συγγραφείς: Chan, Yi-Hao, Lundberg, Vanja, Le Pen, Jérémie, Yuan, Jiayi, Lee, Danyel, Pinci, Francesca, Volpi, Stefano, Nakajima, Koji, Bondet, Vincent, Åkesson, Sanna, Khobrekar, Noopur V, Bodansky, Aaron, Du, Likun, Melander, Tina, Mariaggi, Alice-Andrée, Seeleuthner, Yoann, Saleh, Tariq Shikh, 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 A, Prando, Carolina, Meyts, Isabelle, Bastard, Paul, Borghesi, Alessandro, Bousfiha, Aziz, Boyarchuk, Oksana, Brodin, Petter, Bustamante, Jacinta, Casari, Giorgio, Chevalier, Rémi, Christodoulou, John, Colobran, Roger, Condino-Neto, Antonio, Becerra, Juan Carlos Aldave, Arkin, Lisa, Andreakos, Evangelos, Thorball, Christian W, Espinosa, Sara, Flores, Carlos, Geraldo, Amyrath, Halwani, Rabih, Hatipoğlu, Nevin, Melaiki, Brahim, Fellay, Jacques, Gagro, Alenka, Itan, Yuval, Jeewandara, Chandima, Haerynck, Filomeen, Mansouri, Davood, Naesens, Leslie, Ng, Lisa FP, Okamoto, Keisuke, Soler-Palacin, Pere, Renia, Laurent, Onofre, Aurora Pujol, Resnick, Igor B, Restrepo, José Luis Franco, Rivière, Jacques G, Scherbina, Anna, Šedivá, Anna, Seppänen, Mikko RJ, Su, Helen, Tangye, Stuart G, Temel, Sehime G, Tayoun, Ahmad Abou, Turvey, Stuart, Uddin, KM Furkan, van de Beek, Diederik, Le Voyer, Tom, Vinh, Donald C, Zhang, Shen-Ying, Casanova, Jean-Laurent, Wilson, Michael R, Rosain, Jérémie, Jouanguy, Emmanuelle, Aubart, Mélodie, Abel, Laurent, Mogensen, Trine H, Pan-Hammarström, Qiang, Gao, Daxing, Duffy, Darragh, Cobat, Aurélie, Berg, Stefan, Notarangelo, Luigi D, Harschnitz, Oliver, Rice, Charles M, Studer, Lorenz, Ekwall, Olov

Πηγή: Journal of Experimental Medicine. 221(9)

Θεματικοί όροι: 32 Biomedical and Clinical Sciences (for-2020), Stem Cell Research (rcdc), Genetics (rcdc), Stem Cell Research - Embryonic - Human (rcdc), Emerging Infectious Diseases (rcdc), Neurosciences (rcdc), Stem Cell Research - Induced Pluripotent Stem Cell (rcdc), Coronaviruses (rcdc), Stem Cell Research - Induced Pluripotent Stem Cell - Human (rcdc), Brain Disorders (rcdc), Rare Diseases (rcdc), Infectious Diseases (rcdc), 2.1 Biological and endogenous factors (hrcs-rac), Infection (hrcs-hc), Humans (mesh), Male (mesh), SARS-CoV-2 (mesh), COVID-19 (mesh), Brain Stem (mesh), Adolescent (mesh), Neurons (mesh), Encephalitis, Viral (mesh), Fibroblasts (mesh), Rhombencephalon (mesh), COVID Human Genetic Effort, Brain Stem (mesh), Rhombencephalon (mesh), Neurons (mesh), Fibroblasts (mesh), Humans (mesh), Encephalitis, Viral (mesh), Adolescent (mesh), Male (mesh), COVID-19 (mesh), SARS-CoV-2 (mesh), Humans (mesh), Male (mesh), SARS-CoV-2 (mesh), COVID-19 (mesh), Brain Stem (mesh), Adolescent (mesh), Neurons (mesh), Encephalitis, Viral (mesh), Fibroblasts (mesh), Rhombencephalon (mesh), 11 Medical and Health Sciences (for), Immunology (science-metrix), 32 Biomedical and clinical sciences (for-2020), 42 Health sciences (for-2020)

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://escholarship.org/uc/item/3j5022c2
https://escholarship.org/content/qt3j5022c2/qt3j5022c2.pdf

The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations

Συγγραφείς: Jackson, Adam, Verloes, Alain, Corvo, Alberto, Ferlini, Alessandra, Costa, Alessia, Hoischen, Alexander, Durr, Alexandra, Krebsová, Alice, Metcalfe, Alison, Rath, Ana, Töpf, Ana, Papakonstantinou, Anastasios, Traschütz, Andreas, Bruel, Ange-Line, Codina, Anna Esteve, Heinzmann, Anna, Sommer, Anna Katharina, Sarkozy, Anna, Torella, Annalaura, Denommé-Pichon, Anne-Sophie, Brookes, Anthony J., Atalaia, Antonio, Vitobello, Antonio, Resch, Baptist, van de Warrenburg, Bart, van der Sanden, Bart, Zurek, Birte, Keren, Boris, Eymard, Bruno, Yaldiz, Burcu, Oliveira, Carla, Hernández, Carles, Wilke, Carlo, Lucano, Caterina, José, Celina São, Millevert, Charissa, Bettolo, Chiara Marini, Thauvin, Christel, Boßelmann, Christian, Gilissen, Christian, Davoine, Claire-Sophie, Thomas, Coline, Metay, Corinne, Mignot, Cyril, Thomasová, Dana, Danis, Daniel, Picó, Daniel, Beijer, Danique, Lagorce, David, Ruvolo, David, Piscia, Davide, Sukumaran, Deepthi, Heron, Delphine, Roelofs-Prins, Dieuwke, Spalding, Dylan, Cali, Elisa, Alexander, Elizabeth, de Boer, Elke, Raineri, Emanuele, Lebreton, Emeline, Cohen, Enzo, Janssen, Erik, Kamsteeg, Erik-Jan, Zonneveld-Huijssoon, Eveline, Carneiro, Fátima, Gualandi, Francesca, Magrinelli, Francesca, Muntoni, Francesco, de Vries, Geert, Bullich, Gemma, van der Vries, Gerben, Demidov, German, Stevanin, Giovanni, Bonne, Gisèle, Coarelli, Giulia, Piluso, Giulio, Robert, Glenn, Warren, Greg, Gumus, Gulcin, Brunner, Han, Stamberger, Hannah, Scheffer, Hans, Morsy, Heba, Parkinson, Helen, Houlden, Henry, Hengel, Holger, Lerche, Holger, Graessner, Holm, Paramonov, Ida, Kolen, Ingrid, Gullo, Irene, Zaharieva, Irina, Paske, Iris te, Spier, Isabel, Nelson, Isabelle, Gut, Ivo Glynne, Vandrovcova, Jana, Agathe, Jean-Madeleine de Sainte, Clayton-Smith, Jill, Xu, Jishu, van der Velde, Joeri K., Baets, Jonathan, De Winter, Jonathan, Rohrer, Jonathan, Park, Joohyun, Manera, Jordi Diaz, Garcia-Pelaez, Jose, Kegele, Josua, Schulze-Hentrich, Julia M., Müller, Juliane, Engelhardt, Karin, Sablauskas, Karolis, Ellwanger, Kornelia, Neveling, Kornelia, Abbott, Kristin M., Faivre, Laurence, Guillot-Noel, Léna, Johansson, Lennart, Schütz, Leon, Matalonga, Leslie, Van de Vondel, Liedewei, Vissers, Lisenka E.L.M., Schöls, Ludger, Ryba, Lukáš, Perry, Luke, Garrido, Luzia, Sagath, Lydia, Freeberg, Mallory, Morleo, Manuela, Dabad, Marc, Hanauer, Marc, Sturm, Marc, Neri, Marcella, Fernandez-Callejo, Marcos, Turnovec, Marek, Zanobio, Mariateresa, van Gijn, Marielle, Havlovicová, Markéta, Steehouwer, Marloes, Chahdil, Maroua, Ferreira, Marta, Gut, Marta, Reilly, Mary, Synofzik, Matthis, Kellner, Melanie, Pinelli, Michele, Hanna, Mike, Macek, Milan, Jr., Swertz, Morris A., Hoogerbrugge, Nicoline, van Os, Nienke, Smal, Noor, Riess, Olaf, Hongnat, Oscar, Moloney, Patrick, Doležalová, Pavla, Ferreira, Pedro, ’t Hoen, Peter A.C., de Jonghe, Peter, Heutink, Peter, Robinson, Peter, Lišková, Petra, Neerincx, Pieter B., Ben Yaou, Rabah, Kremliková, Radka Pourová, Bellampalli, Ravishankara, Schüle, Rebecca, Moore, Richard, de Voer, Richarda M., Barbosa-Matos, Rita, Selvatici, Rita, Lauerer-Braun, Robert, Zeuli, Roberta, Abadijou, Sadegh, Nalagandla, Sai Anuhya, Banfi, Sandro, Sisodiya, Sanjay M., Weckhuysen, Sarah, Köhler, Sebastian, Beltran, Sergi, Drunat, Séverine, Banka, Siddharth, Peters, Sophia, Hambleton, Sophie, Gibson, Spencer, Aretz, Stefan, Bigoni, Stefania, Lauxmann, Stephan, Ossowski, Stephan, Efthymiou, Stephanie, Laurie, Steven, Fernandes, Susana, Stojkovic, Tanya, Evangelista, Teresinha, Keane, Thomas, Kleefstra, Tjitske, Haack, Tobias B., Riaz, Umar, Allamand, Valérie, Franková, Vera, Pini, Veronica, Couturier, Victor, Timmerman, Vincent, Nigro, Vincenzo, Bros-Facer, Virginie, Straub, Volker, Kerstjens Frederikse, Wilhemina S., De Ridder, Willem, Steyaert, Wouter, Duffourd, Yannis, Wang, Yunze Patrick, Maver, Ales, Renieri, Alessandra, Münchau, Alexander, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Ciolfi, Andrea, Laner, Andreas, Roos, Andreas, Rump, Andreas, Garcia de Oteyza, Andrés Caballero, Osorio, Andrés Nascimento, Marcé-Grau, Anna, Destrée, Anne, Riva, Antonella, Evangeliou, Athanasios, Trimouille, Aurelien, Başak, Ayşe Nazlı, Dermaut, Bart, Delgado, Beatriz Martínez, Pérez-Dueñas, Belén, Estevez, Berta, Udd, Bjarne, Grimbacher, Bodo, Peterlin, Borut, Poppe, Bruce, Wirth, Brunhilde, Dallapiccola, Bruno, Rooryck, Caroline, Olimpio, Catarina, Depondt, Chantal, Fallerini, Chiara, Depienne, Christel, Korff, Christian, Mertes, Christian, Ruivenkamp, Claudia A.L., Meunier, Colombine, Lederer, Damien, Natera de Benito, Daniel, Beeson, David, Webb, David, Mei, Davide, Karadurmus, Deniz, Lacombe, Didier, Hemelsoet, Dimitri, Parrini, Elena, Kapaki, Elisabeth, Bogaert, Elke, Holinski-Feder, Elke, Leitão, Elsa, Bijlsma, Emilia K., Van Nieuwenhove, Erika, Martín, Estrella López, Sánchez, Eva Bermejo, Bouveret, Eva Hammar, Schröck, Evelin, Carpancea, Evelina, Kokosali, Evgenia, Zara, Federico, Privitera, Flavia, Radio, Francesca Clementina, Munell, Francina, Alonso García de la Rosa, Francisco Javier, Masclaux, Frédéric, Capella, Gabriel, Cavalleri, Gianpiero, Santen, Gijs W.E., Ghani, Hamidah, Verdin, Hannah, Lochmüller, Hanns, Leavis, Helen, Zaganas, Ioannis, Cordts, Isabell, Maystadt, Isabelle, van Montfrans, Joris, Cossins, Judith, Desir, Julie, Gagneur, Julien, Boztug, Kaan, Dahan, Karin, Benson, Katherine, Schon, Katherine, Lohmann, Katja, Polavarapu, Kiran, Platzer, Konrad, Zguro, Kristina, Claeys, Kristl, Mathioudakis, Lambros, van der Veken, Lars, Masó, Laura Batlle, Valle, Laura, Krass, Leon, Huibers, Manon, De la Paz, Manuel Posada, Bourbouli, Mara, Abramowicz, Marc, Scala, Marcello, Ferilli, Marco, Savarese, Marco, Tartaglia, Marco, Deschauer, Marcus, Molnar, Maria Judit, Cilio, Maria-Roberta, Greally, Marie, Hoffer, Mariette J.V., Spilioti, Martha, Pauly, Martje, O'Reghan, Mary, Haimel, Matthias, Karakaya, Mert, Iacomino, Michele, Drakos, Minas, Johari, Mridul, Allen, Nicholas, Schuermans, Nika, Delanty, Norman, Monestier, Olivier, Kiliçarslan, Özge Aksel, Scudieri, Paolo, Uva, Paolo, Striano, Pasquale, Chinnery, Patrick F., May, Patrick, Balicza, Peter, Hackman, Peter, Thompson, Rachel, Jamra, Rami Abou, Herzog, Rebecca, Luknárová, Rebeka, Guerrini, Renzo, Horvath, Rita, Colobran, Roger, van Heurck, Roxane, Mary, Sandrine, Duerinckx, Sarah, Balestrini, Simona, Furini, Simone, Malaichamy, Sivasankar, Moortgat, Stéphanie, Byrne, Susan, Brohée, Sylvain, Ratnaike, Thiloka, Bartolomaeus, Tobias, Benoit, Valerie, Steinke-Lange, Verena, Yépez, Vicente A., Sznajer, Yves, Di Feo, Maria Francesca ^{1, 2, ∗}, Matalonga Borrel, Leslie ^{3, 4}, Vissers, Lisenka ^{6, 11}, de Voer, Richarda ^{6, 12}, Lesca, Gaëtan ^{17, 18}, Gayathri, Swethaa Natraj ², Cossee, Mireille ^{19, 20}, Perrin, Aurelien ^{19, 20}, Bonne, Gisele ²³, Verdonschot, Job A.J. ^{24, 25}

Πηγή: In Genetics in Medicine June 2026 28(6)

Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2

Συγγραφείς: Hu, Lili^{Aff1, Aff2}, van der Sluis, Renee M.^{Aff1, Aff2}, Castelino, Kennith Brian^Aff1, Zhang, Bao-Cun^{Aff1, Aff2}, Ronit, Andreas^Aff3, Zillinger, Thomas^{Aff1, Aff2}, Werner, Marvin^{Aff1, Aff2}, Jørgensen, Sofie Eg^{Aff1, Aff2}, Hansen, Anne Louise^Aff1, Pedersen, Alice^Aff1, Narita, Ryo^{Aff1, Aff2}, Reinert, Line S.^{Aff1, Aff2}, Bundgaard, Bettina^{Aff1, Aff2}, Holm, Christian K.^Aff1, Cobat, Aurelie^{Aff4, Aff5, Aff6}, Casanova, Jean-Laurent^{Aff4, Aff5, Aff6, Aff7, Aff8}, Reggiori, Fulvio^Aff1, Mari, Muriel^Aff1, Paludan, Søren R.^{Aff1, Aff2}, Mogensen, Trine H.^{Aff1, Aff2, Aff9, IDs41467025653088_cor1}, Abel, Laurent^{Aff4, Aff5, Aff6}, Aiuti, Alessandro^{Aff10, Aff11}, Al-Muhsen, Saleh^Aff12, Al-Mulla, Fahd^Aff13, Anderson, Mark S.^Aff14, Andreakos, Evangelos^Aff15, Arias, Andrés A.^{Aff6, Aff16, Aff17}, Arkin, Lisa M.^Aff18, Feldman, Hagit Baris^Aff19, Bastard, Paul^{Aff4, Aff5, Aff6}, Belot, Alexandre^Aff20, Biggs, Catherine M.^Aff21, Bogunovic, Dusan^Aff22, Bolze, Alexandre^Aff23, Bondarenko, Anastasiia^Aff24, Borghesi, Alessandro^{Aff25, Aff26}, Bousfiha, Ahmed A.^{Aff27, Aff28}, Brodin, Petter^Aff29, Bryceson, Yenan^Aff30, Casari, Giorgio^{Aff11, Aff31}, Christodoulou, John^Aff32, Cobat, Aurélie^{Aff4, Aff5, Aff6}, Colobran, Roger^Aff33, Condino-Neto, Antonio^Aff34, Constantinescu, Stefan N.^Aff35, Cooper, Megan A.^Aff36, Dalgard, Clifton L.^Aff37, Desai, Murkesh^Aff38, Drolet, Beth A.^Aff39, Dündar, Munis^Aff40, Duval, Xavier^{Aff41, Aff42}, Duvlis, Sotirija^{Aff43, Aff44}, El Baghdadi, Jamila^Aff45, Eloy, Philippine^Aff46, Espinosa-Padilla, Sara^Aff47, Fellay, Jacques^{Aff48, Aff49}, Flores, Carlos^{Aff50, Aff51, Aff52, Aff53}, Franco, José Luis^Aff16, Froidure, Antoine^{Aff54, Aff55}, Gorochov, Guy^Aff56, Gut, Marta^Aff57, Haerynck, Filomeen^Aff58, Hagin, David^Aff59, Halwani, Rabih^Aff60, Hammarström, Lennart^Aff61, Heath, James R.^Aff62, Hsieh, Elena W. Y.^Aff63, Husebye, Eystein^Aff64, Imai, Kohsuke^Aff65, Itan, Yuval^{Aff66, Aff67}, Jouanguy, Emmanuelle^{Aff4, Aff5, Aff6}, Kaja, Elżbieta^Aff68, Karamitros, Timokratis^Aff69, Kisand, Kai^Aff70, Ku, Cheng-Lung^Aff71, Lau, Yu-Lung^Aff72, Ling, Yun^Aff73, Lucas, Carrie L.^Aff74, Mahévas, Matthieu^{Aff75, Aff76}, Mansouri, Davood^Aff77, Maródi, László^Aff78, Mentré, France^{Aff41, Aff79}, Meyts, Isabelle^{Aff80, Aff81}, Milner, Joshua D.^Aff82, Mironska, Kristina^Aff83, Morio, Tomohiro^Aff84, Ng, Lisa F. P.^{Aff85, Aff86}, Notarangelo, Luigi D.^Aff87, Novelli, Antonio^Aff88, Novelli, Giuseppe^Aff89, O’Farrelly, Cliona^Aff90, Okada, Satoshi^Aff91, Okamoto, Keisuke^Aff92, Ozcelik, Tayfun^Aff93, Ozcelik, Firat^Aff94, Pan-Hammarström, Qiang^Aff61, de Diego, Rebeca Perez^{Aff95, Aff96}, Perez-Tur, Jordi^{Aff97, Aff98}, Perlin, David S.^Aff99, Peter, Jonny^{Aff100, Aff101}, Planas, Anna M.^Aff102, Prando, Carolina^Aff103, Pujol, Aurora^{Aff104, Aff105, Aff106}, Puel, Anne^{Aff4, Aff5, Aff6}, Quintana-Murci, Lluis^{Aff107, Aff108}, Ramaswamy, Sathishkumar^Aff109, Renia, Laurent^{Aff85, Aff86}, Resnick, Igor^Aff110, Rodríguez-Gallego, Carlos^{Aff111, Aff112, Aff113, Aff114}, Sancho-Shimizu, Vanessa^{Aff115, Aff116}, Sediva, Anna^Aff117, Seppänen, Mikko R. J.^{Aff118, Aff119}, Shahrooei, Mohammad^Aff120, Shcherbina, Anna^Aff121, Slaby, Ondrej^Aff122, Snow, Andrew L.^Aff123, Soler-Palacín, Pere^Aff124, Soumelis, Vassili^{Aff125, Aff126}, Spaan, András N.^Aff127, Su, Helen C.^Aff87, Tancevski, Ivan^Aff128, Tangye, Stuart G.^{Aff129, Aff130}, Tayoun, Ahmad Abou^Aff109, Temel, Şehime Gülsün^Aff131, Thorball, Christian^Aff49, Tiberghien, Pierre^Aff132, Trouillet-Assant, Sophie^{Aff133, Aff134}, Turvey, Stuart E.^Aff135, Uddin, K. M. Furkan^Aff136, Uddin, Mohammed J.^{Aff137, Aff138}, van de Beek, Diederik^Aff139, Vianna, Fernanda Sales Luiz^{Aff140, Aff141}, Vinh, Donald C.^{Aff142, Aff143}, von Bernuth, Horst^{Aff144, Aff145, Aff146}, Wauters, Joost^Aff147, Zatz, Mayana^Aff148, Zhang, Qian^{Aff4, Aff5, Aff6}, Zhang, Shen-Ying^{Aff4, Aff5, Aff6}, Bodilsen, Jacob^Aff149, Hansen, Kristoffer Skaalum^Aff9, Storgaard, Merete^Aff149, Benfield, Thomas^Aff150, Helleberg, Marie^Aff151

Πηγή: Nature Communications. 16(1)

Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement

Συγγραφείς: Batlle-Masó, Laura^{Aff1, Aff2}, Padrosa Pulido, Joan^{Aff3, Aff4}, Esteve-Codina, Anna^{Aff3, Aff5}, Perurena-Prieto, Janire^{Aff1, Aff2, Aff6, Aff7}, Franco-Jarava, Clara^Aff8, Aguiló-Cucurull, Aina^{Aff1, Aff2, Aff6}, Martínez-Gallo, Mónica^{Aff1, Aff2, Aff6, Aff7}, Cea, Cristina^Aff9, Rodriguez-Aliberas, Marta^Aff10, Soler-Palacín, Pere^{Aff2, Aff11, Aff12}, Casals, Ferran^{Aff13, Aff14, Aff15, Aff16}, Redondo Velao, Sara^Aff17, Torrent, Montserrat^Aff17, Alsina, Laia^{Aff18, Aff19, Aff20}, Colobran, Roger^{Aff1, Aff2, Aff6, Aff7, Aff9, IDs4152502500535y_cor1}

Πηγή: npj Genomic Medicine. 10(1)

Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency

Συγγραφείς: Urban, Blanca^{Aff1, Aff2, Aff3}, Batlle-Masó, Laura^{Aff3, Aff4, Aff5, Aff6}, Perurena-Prieto, Janire^{Aff1, Aff2, Aff3, Aff7}, Garcia-Prat, Marina^{Aff3, Aff4, Aff5}, Parra-Martínez, Alba^{Aff3, Aff4, Aff5}, Aguiló-Cucurull, Aina^{Aff1, Aff2, Aff3}, Martinez-Gallo, Mónica^{Aff1, Aff2, Aff3, Aff7}, Moushib, Laith^{Aff1, Aff3, Aff7}, Antolín, María^{Aff8, Aff9}, Rivière, Jacques G.^{Aff3, Aff4, Aff5}, Soler-Palacin, Pere^{Aff3, Aff4, Aff5}, Dieli-Crimi, Romina^{Aff1, Aff2, Aff3}, Franco-Jarava, Clara^{Aff10, IDs10875024018333_cor1}, Colobran, Roger^{Aff1, Aff2, Aff3, Aff7, Aff8, IDs10875024018333_cor2}

Πηγή: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 45(1)

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency

Συγγραφείς: van der Linden, Tristan J, Arts,Rob J W, Biggs,Catherine M, Habibi,Laleh, Batlle-Masó,Laura, van Laarhoven,Arjan, Scheepmaker, Lisette M, Yousefi,Pariya, Gómez-Raccio,Andrea C, Alizadeh,Zahra, Mulders-Manders,Catharina M, Oever,Jaap Ten, Schuurs-Hoeijmakers,Janneke, Alipour-Olyei,Nasrin, Molitor,Anne, Di Giovanni,Daniela, Carapito,Raphael, Bahram,Seiamak, Seminario,Gisela, Bezrodnik,Liliana, Momenilandi,Mana, Shahrooei,Mohammad, Bustamante,Jacinta, Aksentijevich,Ivona, Kastner,Daniel, Fazlollahi,Mohammad R, Colobran,Roger, Turvey,Stuart E, van de Veerdonk,Frank L, Casanova,Jean-Laurent, Boisson,Bertrand, Bardoel, Bart W, Spaan, András N, MMB-ami, Infection & Immunity, MMB Medische Staf

Θεματικοί όροι: Journal Article

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://dspace.library.uu.nl/handle/1874/468495

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Συγγραφείς: Aiuti, Alessandro, Al-Muhsen, Saleh, Al-Mulla, Fahd, Andreakos, Evangelos, Arias, Andrés A, Feldman, Hagit Baris, Bastard, Paul, Bondarenko, Anastasia, Borghesi, Alessandro, Bousfiha, Ahmed A, Brodin, Petter, Bryceson, Yenan, Casari, Giorgio, Christodoulou, John, Colobran, Roger, Condino-Neto, Antonio, Fellay, Jacques, Flores, Carlos, Franco, José Luis, Haerynck, Filomeen, Halwani, Rabih, Hammarström, Lennart, Heath, James R, Hsieh, Elena WY, Itan, Yuval, Kaja, Elżbieta, Kisand, Kai, Ku, Cheng-Lung, Ling, Yun, Lau, Yu-Lung, Mansouri, Davood, Meyts, Isabelle, Milner, Joshua D, Mogensen, Trine H, Novelli, Antonio, Novelli, Giuseppe, Okamoto, Keisuke, Ozcelik, Tayfun, de Diego, Rebeca Perez, Perez-Tur, Jordi, Perlin, David S, Prando, Carolina, Pujol, Aurora, Quintana-Murci, Lluis, Renia, Laurent, Resnick, Igor, Rodríguez-Gallego, Carlos, Sancho-Shimizu, Vanessa, Sediva, Anna, Seppänen, Mikko RJ, Shahrooei, Mohammed, Shcherbina, Anna, Palacín, Pere Soler, Pesole, Graziano, Spaan, András N, Su, Helen C, Tancevski, Ivan, Tayoun, Ahmad Abou, Amara, Ali, Gorochov, Guy, Temel, Şehime Gülsün, Thorball, Christian, Tiberghien, Pierre, Trouillet-Assant, Sophie, Turvey, Stuart, Uddin, KM Furkan, Uddin, Mohammed J, van de Beek, Diederik, Vidigal, Mateus, Vinh, Donald C, von Bernuth, Horst, Wauters, Joost, Zatz, Mayana, Zhang, Shen-Ying, Ng, Lisa FP

Πηγή: Nature. 623(7988)

Θεματικοί όροι: 32 Biomedical and Clinical Sciences (for-2020), 3202 Clinical Sciences (for-2020), Clinical Research (rcdc), Autoimmune Disease (rcdc), Emerging Infectious Diseases (rcdc), Infectious Diseases (rcdc), Genetics (rcdc), Rare Diseases (rcdc), Minority Health (rcdc), 2.1 Biological and endogenous factors (hrcs-rac), Autoantibodies (mesh), Genetic Predisposition to Disease (mesh), Pneumonia, Viral (mesh), NF-kappa B p52 Subunit (mesh), AIRE Protein (mesh), NF-kappaB-Inducing Kinase (mesh), I-kappa B Proteins (mesh), Loss of Function Mutation (mesh), Gain of Function Mutation (mesh), Polyendocrinopathies, Autoimmune (mesh), Interferon Type I (mesh), NF-kappa B (mesh), COVID-19 (mesh), Thyroid Epithelial Cells (mesh), Humans (mesh), Heterozygote (mesh), Thymus Gland (mesh), NF-κB Consortium, COVID Human Genetic Effort, Thymus Gland (mesh), Humans (mesh), Pneumonia, Viral (mesh), Polyendocrinopathies, Autoimmune (mesh), Genetic Predisposition to Disease (mesh), NF-kappa B (mesh), Interferon Type I (mesh), Autoantibodies (mesh), Heterozygote (mesh), I-kappa B Proteins (mesh), NF-kappa B p52 Subunit (mesh), Thyroid Epithelial Cells (mesh), Loss of Function Mutation (mesh), Gain of Function Mutation (mesh), COVID-19 (mesh), AIRE Protein (mesh), NF-kappaB-Inducing Kinase (mesh), Autoantibodies (mesh), Genetic Predisposition to Disease (mesh), Pneumonia, Viral (mesh), NF-kappa B p52 Subunit (mesh), AIRE Protein (mesh), NF-kappaB-Inducing Kinase (mesh), I-kappa B Proteins (mesh), Loss of Function Mutation (mesh), Gain of Function Mutation (mesh), Polyendocrinopathies, Autoimmune (mesh), Interferon Type I (mesh), NF-kappa B (mesh), COVID-19 (mesh), Thyroid Epithelial Cells (mesh), Humans (mesh), Heterozygote (mesh), Thymus Gland (mesh), General Science & Technology (science-metrix)

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://escholarship.org/uc/item/6w33j3wh
https://escholarship.org/content/qt6w33j3wh/qt6w33j3wh.pdf

OAS1 and OAS3 genetic variants enhance inflammatory responses to SARS-CoV-2

Συγγραφείς: DeDiego, Marta L. ^{1, ∗}, López-Fernández-Sobrino, Raúl ¹, Pedragosa, Jordi ^{2, 3}, López-García, Darío ¹, Nogales, Aitor ⁴, Durbán, Jordi ⁵, Cardona, Fernando ^{5, 6}, Llucià-Carol, Laia ^{2, 7}, Rivero, Vanessa ¹, Vazquez-Utrilla, Paula ¹, Sanchez-Grande, Laura Palomo ¹, Cobo, Miriam ⁸, Lloret, Lara ⁸, Márquez-Kisinousky, Leonardo ², Ruiz-Jaén, Francisca ^{2, 3}, Lozano, Francisco ^{3, 9}, Sibila, Oriol ^{3, 9, 10}, Faner, Rosa ^{3, 10}, Castro, Pedro ^{3, 9}, Domingo, Carlos ⁹, Robles, Verónica ⁹, Bedini, Josep L. ⁹, Rico, Verónica ⁹, Aguero, Daiana ⁹, Soriano, Alex ^{3, 9}, Nalda, Andrea Martín ¹¹, Martínez, Alba Parra ¹¹, Colobran, Roger ¹², Soler-Palacín, Pere ¹¹, Serra-Llovich, Alexandre ¹³, Dietl, Beatriz ¹³, Arranz, M. Jesús ¹³, Dalmau, David ¹³, Signes-Costa, Jaime ¹⁴, Gil-Carbonell, Joan ¹⁵, Todolí, José ¹⁶, Martínez, Jacobo ¹⁷, Rojo, Silvia ¹⁸, Fiz-López, Aida ¹⁸, Arribas, Elisa ¹⁸, Cal-Sabater, Paloma ¹⁸, Bernado, David ^{18, 19}, Vogel, Marina ^{20, 21}, Wiemann, Stefan ²¹, Abolhassani, Hassan ²², Pan-Hammarström, Qiang ²², Pujol, Aurora ^{23, 24, 25}, Su, Helen C. ^{26, 27}, Lee, Danyel ^{28, 29, 30}, Zhang, Shen-Ying ^{28, 29, 30}, Casanova, Jean-Laurent ^{28, 29, 30, 31, 32}, Fernández-Cadenas, Israel ⁷, Pérez-Tur, Jordi ^{5, 6, ∗∗}, Planas, Anna M. ^{2, 3, 34, ∗∗∗}

Πηγή: In iScience 19 December 2025 28(12)

Genome-wide detection of human variants that disrupt intronic branchpoints

Συγγραφείς: 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

Πηγή: Proceedings of the National Academy of Sciences of the United States of America, 2022 Nov 01. 119(44), 1-12.

Σύνδεσμος πρόσβασης: https://www.jstor.org/stable/27209037

SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain)

Συγγραφείς: Argudo-Ramírez, Ana, Martín-Nalda, Andrea, Laguna, Javier, Riviere, Jacques G., González de Aledo-Castillo, José Manuel, López-Galera, Rosa M., Colobran, Roger, Batlle-Masó, Laura, Quintero, Yania, Martínez, Carmen, Paredes-Fuentes, Abraham J., Perurena-Prieto, Janire, Alonso, Laura, Prats-Viedma, Blanca, García-Villoria, Judit, Soler-Palacín, Pere

Πηγή: Frontiers in Immunology ; volume 17 ; ISSN 1664-3224

Διαθεσιμότητα: https://doi.org/10.3389/fimmu.2026.1803232
https://www.frontiersin.org/articles/10.3389/fimmu.2026.1803232/full

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

Συγγραφείς: Manry, Jérémy, Bastard, Paul, Gervais, Adrian, Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Eto, Shohei, Garcia-Prat, Marina, Bizien, Lucy, Parra-Martínez, Alba, Yang, Rui, Haljasmägi, Liis, Migaud, Mélanie, Särekannu, Karita, Maslovskaja, Julia, de Prost, Nicolas, Tandjaoui-Lambiotte, Yacine, Luyt, Charles-Edouard, Amador-Borrero, Blanca, Gaudet, Alexandre, Poissy, Julien, Morel, Pascal, Richard, Pascale, Cognasse, Fabrice, Troya, Jesús, Trouillet-Assant, Sophie, Belot, Alexandre, Saker, Kahina, Garçon, Pierre, Rivière, Jacques G., Lagier, Jean-Christophe, Gentile, Stéphanie, Rosen, Lindsey B., Shaw, Elana, Morio, Tomohiro, Tanaka, Junko, Dalmau, David, Tharaux, Pierre-Louis, Sene, Damien, Stepanian, Alain, Mégarbane, Bruno, Triantafyllia, Vasiliki, Fekkar, Arnaud, Heath, James R., Franco, José Luis, Anaya, Juan-Manuel, Solé-Violán, Jordi, Imberti, Luisa, Biondi, Andrea, Bonfanti, Paolo, Castagnoli, Riccardo, Delmonte, Ottavia M., Zhang, Yu, Snow, Andrew L., Holland, Steven M., Biggs, Catherine M., Moncada-Vélez, Marcela, Arias, Andrés Augusto, Lorenzo, Lazaro, Boucherit, Soraya, Anglicheau, Dany, Planas, Anna M., Haerynck, Filomeen, Duvlis, Sotirija, Ozcelik, Tayfun, Keles, Sevgi, Bousfiha, Ahmed A., Bakkouri, Jalila El, Ramirez-Santana, Carolina, Paul, Stéphane, Pan-Hammarström, Qiang, Hammarström, Lennart, Dupont, Annabelle, Kurolap, Alina, Metz, Christine N., Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Ciceri, Fabio, Barreiros, Lucila A., Dominguez-Garrido, Elena, Vidigal, Mateus, Zatz, Mayana, van de Beek, Diederik, Sahanic, Sabina, Tancevski, Ivan, Stepanovskyy, Yurii, Boyarchuk, Oksana, Nukui, Yoko, Tsumura, Miyuki, Vidaur, Loreto, Tangye, Stuart G., Burrel, Sonia, Duffy, Darragh, Quintana-Murci, Lluis, Klocperk, Adam, Kann, Nelli Y., Shcherbina, Anna, Lau, Yu-Lung, Leung, Daniel, Coulongeat, Matthieu, Marlet, Julien, Koning, Rutger, Reyes, Luis Felipe, Chauvineau-Grenier, Angélique, Venet, Fabienne, Monneret, Guillaume, Nussenzweig, Michel C., Arrestier, Romain, Boudhabhay, Idris, Baris-Feldman, Hagit, Hagin, David, Wauters, Joost, Meyts, Isabelle, Dyer, Adam H., Kennelly, Sean P., Bourke, Nollaig M., Halwani, Rabih, Sharif-Askari, Fatemeh Saheb, Dorgham, Karim, Sallette, Jérôme, Sedkaoui, Souad Mehlal, AlKhater, Suzan, Rigo-Bonnin, Raúl, Morandeira, Francisco, Roussel, Lucie, Vinh, Donald C., Erikstrup, Christian, Condino-Neto, Antonio, Prando, Carolina, Bondarenko, Anastasiia, Spaan, András N., Gilardin, Laurent, Fellay, Jacques, Lyonnet, Stanislas, Bilguvar, Kaya, Lifton, Richard P., Mane, Shrikant, Anderson, Mark S., Boisson, Bertrand, Béziat, Vivien, Zhang, Shen-Ying, Andreakos, Evangelos, Hermine, Olivier, Pujol, Aurora, Peterson, Pärt, Mogensen, Trine H., Rowen, Lee, Mond, James, Debette, Stéphanie, de Lamballerie, Xavier, Burdet, Charles, Bouadma, Lila, Zins, Marie, Soler-Palacin, Pere, Colobran, Roger, Gorochov, Guy, Solanich, Xavier, Susen, Sophie, Martinez-Picado, Javier, Raoult, Didier, Vasse, Marc, Gregersen, Peter K., Piemonti, Lorenzo, Rodríguez-Gallego, Carlos, Notarangelo, Luigi D., Su, Helen C., Kisand, Kai, Okada, Satoshi, Puel, Anne, Jouanguy, Emmanuelle, Rice, Charles M., Tiberghien, Pierre, Zhang, Qian, Casanova, Jean-Laurent, Abel, Laurent, Cobat, Aurélie

Πηγή: Proceedings of the National Academy of Sciences of the United States of America, 2022 May . 119(21), 1-10.

Σύνδεσμος πρόσβασης: https://www.jstor.org/stable/27151949

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Συγγραφείς: Tangye, Stuart G., Abel, Laurent, Al-Muhsen, Salah, Aiuti, Alessandro, Al-Muhsen, Saleh, Al-Mulla, Fahd, Anderson, Mark S., Andreakos, Evangelos, Novelli, Antonio, Arias, Andrés A., Feldman, Hagit Baris, Belot, Alexandre, Biggs, Catherine M., Bousfiha, Ahmed A., Brodin, Petter, Christodoulou, John, Condino-Neto, Antonio, Dalgard, Clifton L., Espinosa-Padilla, Sara, Fellay, Jacques, Flores, Carlos, Franco, José Luis, Froidure, Antoine, Haerynck, Filomeen, Halwani, Rabih, Hammarström, Lennart, Henrickson, Sarah E., Hsieh, Elena W.Y., Itan, Yuval, Karamitros, Timokratis, Lau, Yu-Lung, Mansouri, Davood, Meyts, Isabelle, Mogensen, Trine H., Morio, Tomohiro, Ng, Lisa F.P., Notarangelo, Luigi D., Novelli, Giuseppe, Okada, Satoshi, Ozcelik, Tayfun, Pan-Hammarström, Qiang, Perez de Diego, Rebeca, Prando, Carolina, Pujol, Aurora, Renia, Laurent, Resnick, Igor, Rodríguez-Gallego, Carlos, Sancho-Shimizu, Vanessa, Seppänen, Mikko R.J., Shcherbina, Anna, Snow, Andrew L., Soler-Palacín, Pere, Spaan, András N., Tancevski, Ivan, Tayoun, Ahmad Abou, Temel, Sehime G., Turvey, Stuart E., Uddin, Mohammed J., Vinh, Donald C., Zatz, Mayana, Okamoto, Keisuke, Pelin, David S., Pesole, Graziano, van de Beek, Diederik, Colobran, Roger, Wauters, Joost, Su, Helen C., Casanova, Jean-Laurent

Συνεισφορές: Stuart G, T, Novelli, G, Abel, Laurent, Al-Muhsen, Salah, Aiuti, Alessandro, Al-Muhsen, Saleh, Al-Mulla, Fahd, Anderson, Mark S., Andreakos, Evangelo, Novelli, Antonio, Arias, Andrés A., Feldman, Hagit Bari, Belot, Alexandre, Biggs, Catherine M., Bousfiha, Ahmed A., Brodin, Petter, Christodoulou, John, Condino-Neto, Antonio, Dalgard, Clifton L., Espinosa-Padilla, Sara, Fellay, Jacque, Flores, Carlo, Franco, José Lui, Froidure, Antoine, Haerynck, Filomeen, Halwani, Rabih, Hammarström, Lennart, Henrickson, Sarah E., Hsieh, Elena W. Y., Itan, Yuval, Karamitros, Timokrati, Lau, Yu-Lung, Mansouri, Davood, Meyts, Isabelle, Mogensen, Trine H., Morio, Tomohiro, Ng, Lisa F. P., Notarangelo, Luigi D., Novelli, Giuseppe, Okada, Satoshi, Ozcelik, Tayfun, Pan-Hammarström, Qiang, Perez de Diego, Rebeca, Prando, Carolina, Pujol, Aurora, Renia, Laurent, Resnick, Igor, Rodríguez-Gallego, Carlo, Sancho-Shimizu, Vanessa, Seppänen, Mikko R. J., Shcherbina, Anna, Snow, Andrew L., Soler-Palacín, Pere, Spaan, András N., Tancevski, Ivan, Tangye, Stuart G., Tayoun, Ahmad Abou, Temel, Sehime G., Turvey, Stuart E., Uddin, Mohammed J., Vinh, Donald C., Zatz, Mayana, Okamoto, Keisuke, Pelin, David S., Pesole, Graziano, van de Beek, Diederik, Colobran, Roger, Wauters, Joost, Su, Helen C., Casanova, Jean-Laurent

Πηγή: J Allergy Clin Immunol
Journal of Allergy and Clinical Immunology

Θεματικοί όροι: primary immune deficiencie, 0301 basic medicine, 0303 health sciences, inborn errors of immunity, SARS-CoV-2, COVID-19, type I IFN signaling, Review Article, Settore MED/03 - GENETICA MEDICA, Communicable Diseases, 3. Good health, 03 medical and health sciences, immune dysregulation, cytokine storm, primary immune deficiencies, Humans, Disease Susceptibility

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/36522221
https://avesis.uludag.edu.tr/publication/details/44142c79-a3aa-4aed-ab36-9f9af0814333/oai

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Συγγραφείς: Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Abou Tayoun, Ahmad, Aiuti, Alessandro, Alavi Darazam, Ilad, Allende, Luis M, Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan T, Bustos, Ingrid G, Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Covill, Laura E, Delmonte, Ottavia M, El Zein, Loubna, Flores, Carlos, Gregersen, Peter K, Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E, Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G, Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M, Baris-Feldman, Hagit, Butte, Manish J, Constantinescu, Stefan N, Cooper, Megan A, Dalgard, Clifton L, Fellay, Jacques, Heath, James R, Lau, Yu-Lung, Lifton, Richard P, Maniatis, Tom, Mogensen, Trine H, von Bernuth, Horst, Lermine, Alban, Vidaud, Michel

Πηγή: Genome Medicine. 15(1)

Θεματικοί όροι: 31 Biological Sciences (for-2020), 3105 Genetics (for-2020), Clinical Research (rcdc), Coronaviruses (rcdc), Infectious Diseases (rcdc), Genetics (rcdc), Human Genome (rcdc), Pneumonia & Influenza (rcdc), Emerging Infectious Diseases (rcdc), 2.1 Biological and endogenous factors (hrcs-rac), Humans (mesh), Young Adult (mesh), Adult (mesh), Middle Aged (mesh), COVID-19 (mesh), SARS-CoV-2 (mesh), Toll-Like Receptor 3 (mesh), Toll-Like Receptor 7 (mesh), Interferon Type I (mesh), Autoantibodies (mesh), Rare variants, COVID-19, Immunity, Type I interferon, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Humans (mesh), Interferon Type I (mesh), Autoantibodies (mesh), Adult (mesh), Middle Aged (mesh), Toll-Like Receptor 3 (mesh), Toll-Like Receptor 7 (mesh), Young Adult (mesh), COVID-19 (mesh), SARS-CoV-2 (mesh), COVID-19, Immunity, Rare variants, Type I interferon, Humans (mesh), Young Adult (mesh), Adult (mesh), Middle Aged (mesh), COVID-19 (mesh), SARS-CoV-2 (mesh), Toll-Like Receptor 3 (mesh), Toll-Like Receptor 7 (mesh), Interferon Type I (mesh), Autoantibodies (mesh), 0604 Genetics (for), 1103 Clinical Sciences (for), 3105 Genetics (for-2020)

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://escholarship.org/uc/item/922199h2
https://escholarship.org/content/qt922199h2/qt922199h2.pdf

The immune response to SARS-CoV-2 in COVID-19 as a recall response susceptible to immune imprinting: A prospective cohort study

Συγγραφείς: Alvarez-Sierra, Daniel ^{a, ⁎⁎, 1}, Martínez-Gallo, Mónica ^{a, b, c}, Sánchez-Montalvá, Adrián ^{d, e, f}, Fernández-Sanmartín, Marco ^{g, 2}, Colobran, Roger ^{a, b, c}, Espinosa-Pereiro, Juan ^{d, e, f}, Poyatos-Canton, Elísabet ^{h, 3}, Zurera-Egea, Coral ^j, Sánchez-Pla, Alex ^k, Violan, Concepción ^l, Parra, Rafael ^m, Alzayat, Hammad ^{g, 2}, Vivancos, Ana ⁿ, Morandeira-Rego, Francisco ^h, Urban-Vargas, Blanca ^{h, 4}, Martínez-Cáceres, Eva ^{c, i, j}, Hernández-González, Manuel ^{a, b, c}, Bas-Minguet, Jordi ^h, Katsikis, Peter D. ^o, Teniente-Serra, Aina ^{c, i, j}, Pujol-Borrell, Ricardo ^{b, c, n, ⁎}

Πηγή: In Clinical Immunology March 2025 272

Expanding the landscape of systemic sclerosis-related autoantibodies through RNA immunoprecipitation coupled with massive parallel sequencing

Συγγραφείς: Perurena-Prieto, Janire ^{a, b, c}, Sanz-Martínez, María Teresa ^{a, b}, Viñas-Giménez, Laura ^{a, b}, Codina-Clavaguera, Claudia ^{d, e}, Triginer, Laura ^e, Gordillo-González, Fernando ^{f, 1}, Andrés-León, Eduardo ^f, Batlle-Masó, Laura ^{g, h, i}, Martin, Javier ^f, Selva-O’Callaghan, Albert ^{d, e}, Pujol, Ricardo ^{c, j}, McHugh, Neil J. ^k, Tansley, Sarah L. ^k, Colobran, Roger ^{a, b, c, l, ⁎}, Guillen-Del-Castillo, Alfredo ^{d, e, ⁎⁎}, Simeón-Aznar, Carmen Pilar ^{d, e}

Πηγή: In Journal of Autoimmunity December 2024 149

Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children

Συγγραφείς: Bucciol, Giorgia, Meyts, Isabelle, Abel, Laurent, Al-Muhsen, Salah, Aiuti, Alessandro, Al-Mulla, Fahd, Andreakos, Evangelos, Antonio, Novelli, Arias, Andrés, Trouillet-Assant, Sophie, Belot, Alexandre, Biggs, Catherine, Bousfiha, Ahmed, Bolze, Alex, Borghesi, Alessandro, Brodin, Petter, Christodoulou, John, Cobat, Aurélie, Condino-Neto, Antonio, Constantinescu, Stefan, Dalgard, Clifton, Espinosa-Padilla, Sara, Fellay, Jacques, Flores, Carlos, Franco, José Luis, Froidure, Antoine, Gorochov, Guy, Haerynck, Filomeen, Halwani, Rabih, Hsieh, Elena W.Y., Itan, Yuval, Kisand, Kai, Lau, Yu-Lung, Mansouri, Davood, Mogensen, Trine, Ng, Lisa F.P., Notarangelo, Luigi, Novelli, Giuseppe, Okada, Satoshi, Ozcelik, Tayfun, Perez de Diego, Rebeca, Prando, Carolina, Pujol, Aurora, Quintana-Murci, Lluis, Renia, Laurent, Resnick, Igor, Roussel, Lucie, Rodríguez-Gallego, Carlos, Sancho-Shimizu, Vanessa, Shahrooei, Mohammed, Soler-Palacín, Pere, Spaan, András, Tancevski, Ivan, Tangye, Stuart, Tayoun, Ahmad Abou, Temel, Şehime Gülsün, Tiberghien, Pierre, Tur, Jordi Perez, Turvey, Stuart, Uddin, Furkan, Uddin, Mohammed, Vidigal, Mateus, Vinh, Donald, Zatz, Mayana, Okamoto, Keisuke, Perlin, David, Pesole, Graziano, Thorball, Christian, van de Beek, Diederik, Colobran, Roger, Wauters, Joost, Zhang, Shen-Ying, Zhang, Qian, Su, Helen, Casanova, Jean-Laurent

Συνεισφορές: Sergi, Gianna, Bucciol, G, Meyts, I, Novelli, G, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), University Hospitals Leuven Leuven, Rockefeller University New York, 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), IRCCS Ospedale San Raffaele Milan, Italy, Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University Milan, Italie (UniSR), Dasman Diabetes Institute (DDI), Biomedical Research Foundation of the Academy of Athens (BRFAA), IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, 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), Virology and human respiratory Pathologies - Virology and human respiratory Pathologies CIRI (CIRI-VirPath), 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), Hospices Civils de Lyon (HCL), University of British Columbia Canada (UBC), Fondazione IRCCS Policlinico San Matteo Pavia, Università degli Studi di Pavia Italia = University of Pavia Italy = Université de Pavie Italie (UNIPV), Ecole Polytechnique Fédérale de Lausanne (EPFL), Karolinska Institutet Stockholm, University of Melbourne, The University of Sydney, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institute of Biomedical Sciences - Department of Immunology Sao Paulo, Universidade de São Paulo = University of São Paulo (USP), Ludwig Institute for Cancer Research Brussels, Belgium (LICR - BRUSSELS), Ludwig Institute for Cancer Research, De Duve Institute, Université Catholique de Louvain = Catholic University of Louvain (UCL), University of Oxford, Génétique Evolutive Humaine - Human Evolutionary Genetics, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Collège de France - Chaire Génomique humaine et évolution, Collège de France (CdF (institution)), Supported by the European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN-RITA). I.M. is a senior clinical investigator at the Research Foundation–Flanders (FWO Vlaanderen) and is supported by a Katholieke Universiteit Leuven C1 (grant C16/18/007), the European Commission under Horizon Europe project UNDINE GA 10127100, the Research Foundation–Flanders (grants G0C8517N, G0B5120N, and G0E8420N), a European Research Council Starting Grant, and the Jeffrey Modell Foundation. H.C.S. and L.D.N. (listed under the COVID-Human Genetic Effort Consortium Consortium) are supported by the Division of Intramural Research of the National Institute of Allergy and Infectious Diseases, NIH. J.L.C. is supported by the National Institutes of Health (grants R01AI088364, R01AI163029, and UL1TR001866), Fisher Center for Alzheimer’s Research Foundation, Meyer Foundation, JPB Foundation, French National Research Agency (grants ANR-10-IAHU-01, ANR-10-LABX-62-IBEID, ANR-20-CE93-003, ANR-20-CO11-0001), French Foundation for Medical Research (grant EQU201903007798), ANRS-COV05, the European Union’s Horizon 2020 Research and Innovation Program (grant 824110, EASI-Genomics), HORIZON-HLTH-2021-DISEASE-04 Program (grant 01057100, UNDINE), the ANR-RHU COVIFERON Program (grant ANR-21-RHUS-08), the Square Foundation, Grandir-Fonds de solidarité pour l’enfance, the Fondation du Souffle, the SCOR Corporate Foundation for Science, and the French Ministry of Higher Education, Research, and Innovation (grant MESRI-COVID-19)., 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-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-20-CO11-0001,AABIFNCOV,Bases génétiques et immunologiques des auto-anticorps contre les interférons de type I prédisposant aux formes sévères de COVID-19.(2020), ANR-21-RHUS-0008,COVIFERON,Covid-19 and interferons: from discovery to therapy(2021), European Project: 101057100,HORIZON-HLTH-2021-DISEASE-04 ,UNDINE(2022), European Project: 824110,H2020-INFRAIA-2018-1,EASI-Genomics(2019)

Πηγή: J Allergy Clin Immunol
Journal of Allergy and Clinical Immunology

Θεματικοί όροι: Male, 0301 basic medicine, Allergy, GENETIC SUSCEPTIBILITY, [SDV]Life Sciences [q-bio], Immunology, CHRONIC MUCOCUTANEOUS CANDIDIASIS, Review Article, Settore MED/03 - GENETICA MEDICA, PATIENT, DISEASE, MECHANISMS, Young Adult, 03 medical and health sciences, Post-Acute COVID-19 Syndrome, Humans, COVID Human Genetic Effort, Child, multisystem inflammatory syndrome in children, Science & Technology, SARS-CoV-2, COVID-19, Systemic Inflammatory Response Syndrome, 3. Good health, [SDV] Life Sciences [q-bio], ALPHA, 3204 Immunology, 1107 Immunology, ANTIBODIES, Interferon Type I, type I interferon, AUTOANTIBODIES, Life Sciences & Biomedicine

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/36841740
https://hdl.handle.net/20.500.11768/146699
https://doi.org/10.1016/j.jaci.2023.02.003
https://www.nature.com/articles/s41591-022-01934-9
https://lirias.kuleuven.be/handle/20.500.12942/716107
https://doi.org/10.1016/j.jaci.2023.02.003
https://hal.science/hal-04238658v1
https://doi.org/10.1016/j.jaci.2023.02.003
https://hdl.handle.net/2108/321978
https://doi.org/10.1016/j.jaci.2023.02.003
https://avesis.uludag.edu.tr/publication/details/52fe2bed-7c7d-4fac-bfd3-608ac452835c/oai