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: Israni, Muskan, Alderson, Eliska, Mahlaoui, Nizar, Obici, Laura, Rossi-Semerano, Linda, Lachmann, Helen, Avramovič, Mojca Zajc, Guffroy, Aurelien, Dalm, Virgil, Rimmer, Rachel, Solis, Leire, Villar, Carlota, Gennery, Andrew R., Skeffington, Stephanie, Nordin, Julia, Warnatz, Klaus, Korganow, Anne Sophie, Antón, Jordi, Cattalini, Marco, Berg, Stefan, Soler-Palacín, Pere, Campbell, Mari, Burns, Siobhan O., Neven, Bénédicte, Carrabba, Maria, Pergent, Martine, Jandus, Peter, Velcheva, Margarita, Pac, Malgorzata, Haerynck, Filomeen, Meyts, Isabelle, Hauck, Fabian, Sediva, Anna, Gardulf, Ann, Hayward, Georgia, Amin, Tania, Dehoorne, Joke, Neth, Olaf, Masmas, Tania Nicole, Katzenstein, Terese, da Silva, Susana Lopes, Marquart, Hanne, Hentgen, Véronique, Fabio, Giovanna, von Bernuth, Horst, Herlin, Troels, Brogan, Paul, Folkers, Marina, Fritsch-Stork, Ruth

المصدر: Israni , M , Alderson , E , Mahlaoui , N , on behalf of the ESID Clinical Working Party , the ERN RITA Transition Working Group Consortium , Obici , L , Rossi-Semerano , L , Lachmann , H , Avramovič , M Z , Guffroy , A , Dalm , V , Rimmer , R , Solis , L , Villar , C , Gennery , A R , Skeffington , S , Nordin , J , Warnatz , K , Korganow , A S , Antón , J , Cattalini , M , Berg , S ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/c2cbc9fb-d6c3-43b5-a12c-2720596f188a
https://doi.org/10.1007/s10875-024-01838-y
https://pure.eur.nl/ws/files/180273097/s10875-024-01838-y.pdf
http://www.scopus.com/inward/record.url?scp=85212684844&partnerID=8YFLogxK

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: 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: Van Coillie, Samya, Prévot, Johan, Sánchez-Ramón, Silvia, Lowe, David M., Borg, Michael, Autran, Brigitte, Segundo, Gesmar, Pecoraro, Antonio, Garcelon, Nicolas, Boersma, Cornelis, Silva, Susana L., Drabwell, Jose, Quinti, Isabella, Meyts, Isabelle, Ali, Adli, Burns, Siobhan O., van Hagen, Martin, Pergent, Martine, Mahlaoui, Nizar

المصدر: Van Coillie , S , Prévot , J , Sánchez-Ramón , S , Lowe , D M , Borg , M , Autran , B , Segundo , G , Pecoraro , A , Garcelon , N , Boersma , C , Silva , S L , Drabwell , J , Quinti , I , Meyts , I , Ali , A , Burns , S O , van Hagen , M , Pergent , M & Mahlaoui , N 2024 , ' Charting a course for global progress in PIDs by 2030 — proceedings from the IPOPI global ....

مصطلحات موضوعية: antimicrobial resistance (AMR), artificial intelligence (AI), immunoglobulin replacement therapy (IGRT), pandemic preparedness, patient-reported outcome measures (PROMs), primary immunodeficiencies (PID), rare diseases (RD), targeted therapies

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/237458d5-f94f-43d0-a409-c5041d10b220
https://research.rug.nl/en/publications/237458d5-f94f-43d0-a409-c5041d10b220
https://doi.org/10.3389/fimmu.2024.1430678
https://pure.rug.nl/ws/files/1125854724/fimmu-15-1430678.pdf
http://www.scopus.com/inward/record.url?scp=85198048337&partnerID=8YFLogxK

المؤلفون: Tadros, Susan, Prévot, Johan, Meyts, Isabelle, Sánchez-Ramón, Silvia, Erwa, Nahla H., Fischer, Alain, Lefevre, Guillaume, Hotchko, Matthew, Jaworski, Peter M., Leavis, Helen, Boersma, Cornelis, Drabwell, Jose, Van Hagen, P. Martin, Van Coillie, Samya, Pergent, Martine, Burns, Siobhan O., Mahlaoui, Nizar

المساهمون: Université de Lille, Inserm, CHU Lille, Royal Free London NHS Foundation Trust, Catholic University of Leuven = Katholieke Universiteit Leuven KU Leuven, University Hospitals Leuven Leuven, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos Madrid, Spain IdISSC, University of Khartoum, Centre de Référence Déficits Immunitaires Héréditaires CEREDIH, Collège de France CdF (institution), Hôpital Necker - Enfants Malades AP-HP, Imagine - Institut des maladies génétiques (IHU) Imagine - U1163, Centre Hospitalier Régional Universitaire CHU Lille CHRU Lille, Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286, Georgetown University Washington GU, University Medical Center Utrecht, University of Groningen Groningen, Open University of the Netherlands Heerlen, Erasmus University Medical Center Rotterdam Erasmus MC

مصطلحات موضوعية: primary immunodeficiencies/inborn errors of immunity, immunoglobulin replacement therapy/plasma derived medicinal products, hematopoietic stem cell transplantation, gene therapy, newborn screening, next generation sequencing, quality of life, targeted therapies/personalized medicine

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

Relation: Frontiers in Immunology; Front Immunol; http://hdl.handle.net/20.500.12210/100542

الاتاحة: https://hdl.handle.net/20.500.12210/100542

المؤلفون: Alligon, Mickaël, Mahlaoui, Nizar, Bouaziz, Olivier

المصدر: Frontiers in Epidemiology ; volume 4 ; ISSN 2674-1199

الاتاحة: http://dx.doi.org/10.3389/fepid.2024.1386922
https://www.frontiersin.org/articles/10.3389/fepid.2024.1386922/full

المؤلفون: Bloch, Coralie, Jais, Jean Philippe, Gil, Marine, Boubaya, Marouane, Lepelletier, Yves, Bader-Meunier, Brigitte, Mahlaoui, Nizar, Garcelon, Nicolas, Lambotte, Olivier, Launay, David, Larroche, Claire, Lazaro, Estibaliz, Liffermann, Francois, Lortholary, Olivier, Michel, Marc, Michot, Jean-Marie, Morel, Pierre, Cheminant, Morgane, Suarez, Felipe, Terriou, Louis, Urbanski, Geoffrey, Viallard, Jean-Francois, Alcais, Alexandre, Fischer, Alain, de Saint Basile, Geneviève, Hermine, Olivier, Bonnet, Fabrice, Godemer, Pascal, Gandhi, Damaj, Fain, Olivier, Pene, Frederic, Perlat, Antoinette

المصدر: Journal of Allergy and Clinical Immunology ; volume 153, issue 1, page 256-264 ; ISSN 0091-6749

الاتاحة: http://dx.doi.org/10.1016/j.jaci.2023.07.023
https://api.elsevier.com/content/article/PII:S0091674923011090?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0091674923011090?httpAccept=text/plain

المؤلفون: Meyts, Isabelle, Bucciol, Giorgia, Quinti, Isabella, Neven, Bénédicte, Fischer, Alain, Seoane, Elena, Lopez-Granados, Eduardo, Gianelli, Carla, Robles-Marhuenda, Angel, Jeandel, Pierre-Yves, Paillard, Catherine, Sankaran, Vijay G, Demirdag, Yesim Yilmaz, Lougaris, Vassilios, Aiuti, Alessandro, Plebani, Alessandro, Milito, Cinzia, Dalm, Virgil ASH, Guevara-Hoyer, Kissy, Sánchez-Ramón, Silvia, Bezrodnik, Liliana, Barzaghi, Federica, Gonzalez-Granado, Luis Ignacio, Hayman, Grant R, Uzel, Gulbu, Mendonça, Leonardo Oliveira, Agostini, Carlo, Spadaro, Giuseppe, Badolato, Raffaele, Soresina, Annarosa, Vermeulen, François, Bosteels, Cedric, Lambrecht, Bart N, Keller, Michael, Mustillo, Peter J, Abraham, Roshini S, Gupta, Sudhir, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Freeman, Alexandra F, Yamazaki-Nakashimada, Marco, Scheffler-Mendoza, Selma, Espinosa-Padilla, Sara, Gennery, Andrew R, Jolles, Stephen, Espinosa, Yazmin, Poli, M Cecilia, Fieschi, Claire, Hauck, Fabian, Cunningham-Rundles, Charlotte, Mahlaoui, Nizar, Errors of Immunity, IUIS Committee of Inborn, Warnatz, Klaus, Sullivan, Kathleen E, Tangye, Stuart G

المصدر: Journal of Allergy and Clinical Immunology. 147(2)

مصطلحات موضوعية: Vaccine Related, Clinical Research, Pneumonia & Influenza, Prevention, Pediatric, Emerging Infectious Diseases, Pneumonia, Infectious Diseases, Lung, Biodefense, Rare Diseases, Good Health and Well Being, Adolescent, Adult, Aged, COVID-19, Child, Child, Preschool, Female, Genetic Diseases, Inborn, Humans, Immunologic Deficiency Syndromes, Infant, Infant, Newborn, Male, Middle Aged, Retrospective Studies, Risk Factors, SARS-CoV-2, Severity of Illness Index, Young Adult, primary immunodeficiencies, inborn errors of immunity, hypogammaglobulinemia, immune dysregulation, IUIS Committee of Inborn Errors of Immunity, Immunology, Allergy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1wb709h7

المؤلفون: Lefèvre, Guillaume, Borget, Isabelle, Lefèvre, Cinira, Maherzi, Chahrazed, Nucit, Arnaud, Hennaoui, Mouna, Schmidt, Aurélie, Lennon, Hannah, Grenier, Benjamin, Daydé, Florent, Mahlaoui, Nizar

المصدر: PLoS ONE; 1/24/2025, Vol. 20 Issue 1, p1-16, 16p

مصطلحات موضوعية: FRENCH people, MEDICAL care costs, DATABASES, REIMBURSEMENT, HOSPITAL care

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: Tadros, Susan, Prévot, Johan, Meyts, Isabelle, Sánchez-Ramón, Silvia, Erwa, Nahla H., Fischer, Alain, Lefevre, Guillaume, Hotchko, Matthew, Jaworski, Peter M., Leavis, Helen, Boersma, Cornelis, Drabwell, Jose, van Hagen, Martin, Van Coillie, Samya, Pergent, Martine, Burns, Siobhan O., Mahlaoui, Nizar

المساهمون: MS Reumatologie/Immunologie/Infectie, Infection & Immunity

مصطلحات موضوعية: gene therapy, hematopoietic stem cell transplantation, immunoglobulin replacement therapy/plasma derived medicinal products, newborn screening, next generation sequencing, primary immunodeficiencies/inborn errors of immunity, quality of life, targeted therapies/personalized medicine, Immunology and Allergy, Immunology, Journal Article, Research Support, Non-U.S. Gov't

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/450550

الاتاحة: https://dspace.library.uu.nl/handle/1874/450550

المؤلفون: Israni, Muskan, Nicholson, Bethany, Mahlaoui, Nizar, Obici, Laura, Rossi-Semerano, Linda, Lachmann, Helen, Hayward, Georgia, Avramovič, Mojca Zajc, Guffroy, Aurelien, Dalm, Virgil, Rimmer, Rachel, Solis, Leire, Villar, Carlotta, Gennery, Andrew R., Skeffington, Stephanie, Nordin, Julia, Warnatz, Klaus, Korganow, Anne Sophie, Antón, Jordi, Cattalini, Marco, Amin, Tania, Berg, Stephan, Soler-Palacin, Pere, Burns, Siobhan O., Campbell, Mari

المصدر: Israni , M , Nicholson , B , RITA-ERN Transition Working Group Consortium , Mahlaoui , N , Obici , L , Rossi-Semerano , L , Lachmann , H , Hayward , G , Avramovič , M Z , Guffroy , A , Dalm , V , Rimmer , R , Solis , L , Villar , C , Gennery , A R , Skeffington , S , Nordin , J , Warnatz , K , Korganow , A S , Antón , J , Cattalini , M , Amin , T , Berg , S , Soler-Palacin , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/312538de-cb96-45e1-93ae-218ef454aa08
https://doi.org/10.1007/s10875-022-01345-y
https://pure.eur.nl/ws/files/74041052/Current_Transition_Practice_for_Primary_Immunodeficiencies_and_Autoinflammatory_Diseases_in_Europe.pdf
http://www.scopus.com/inward/record.url?scp=85139780490&partnerID=8YFLogxK

المؤلفون: Tadros, Susan, Prévot, Johan, Meyts, Isabelle, Sánchez-Ramón, Silvia, Erwa, Nahla H., Fischer, Alain, Lefevre, Guillaume, Hotchko, Matthew, Jaworski, Peter M., Leavis, Helen, Boersma, Cornelis, Drabwell, Jose, van Hagen, Martin, Van Coillie, Samya, Pergent, Martine, Burns, Siobhan O., Mahlaoui, Nizar

المصدر: Tadros , S , Prévot , J , Meyts , I , Sánchez-Ramón , S , Erwa , N H , Fischer , A , Lefevre , G , Hotchko , M , Jaworski , P M , Leavis , H , Boersma , C , Drabwell , J , van Hagen , M , Van Coillie , S , Pergent , M , Burns , S O & Mahlaoui , N 2023 , ' The PID Odyssey 2030 : outlooks, unmet needs, hurdles, and opportunities — proceedings from the IPOPI global multi-stakeholders’ summit (June 2022) ' , Frontiers ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/46bdda9a-60e6-4729-8c60-541119472c2b
https://doi.org/10.3389/fimmu.2023.1245718
https://pure.eur.nl/ws/files/99624264/The_PID_Odyssey_2030_outlooks_unmet_needs_hurdles_and_opportunities_proceedings_from_the_IPOPI_global_multi-stakeholder.pdf
http://www.scopus.com/inward/record.url?scp=85169329593&partnerID=8YFLogxK

المؤلفون: Coustal, Cyrille, Goulabchand, Radjiv, Labauge, Pierre, Guilpain, Philippe, Carra-Dallière, Clarisse, Januel, Edouard, Jeziorski, Eric, Salle, Valery, Viallard, Jean-François, Boutboul, David, Fieschi, Claire, Gobert, Delphine, Aladjidi, Nathalie, Rullier, Patricia, Graveleau, Julie, Piel-Julian, Marie, Suarez, Felipe, Neven, Benedicte, Mahlaoui, Nizar, Ayrignac, Xavier

المساهمون: Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Sorbonne Université (SU), Pathogenesis and Control of Chronic and Emerging Infections (PCCEI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université des Antilles (UA)-Etablissement français du don du sang Montpellier -Université de Montpellier (UM), CHU Amiens-Picardie, Mécanismes physiopathologiques et conséquences des calcifications cardiovasculaires - UR UPJV 7517 (MP3CV), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie, Hôpital Haut-Lévêque CHU Bordeaux, Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux), Université de Bordeaux (UB), Hopital Saint-Louis AP-HP (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Saint-Antoine AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre hospitalier de Saint-Nazaire, Hôpital Necker - Enfants Malades AP-HP, Service d'immuno-hématologie pédiatrique CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Département de neurologie Montpellier, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Université de Montpellier (UM), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)

المصدر: ISSN: 0028-3878.

مصطلحات موضوعية: Abatacept, CTLA4, Neuroinflammatory disorders, Primary Immune Regulatory Disorders, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: PUBMEDCENTRAL: PMC10585684

الاتاحة: https://u-picardie.hal.science/hal-04172594
https://u-picardie.hal.science/hal-04172594v1/document
https://u-picardie.hal.science/hal-04172594v1/file/WNL-2023-000421.pdf
https://doi.org/10.1212/WNL.0000000000207609

المؤلفون: Cheminant, Morgane, Fox, Thomas, Alligon, Mickaël, Bouaziz, Olivier, Perlat, Antoinette, Fischer, Alain, Mahlaoui, Nizar, Suarez, Felipe

المساهمون: Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University College of London London (UCL), Mathématiques Appliquées Paris 5 (MAP5 - UMR 8145), Institut National des Sciences Mathématiques et de leurs Interactions - CNRS Mathématiques (INSMI-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Service de Médecine interne et immunologie clinique Rennes = internal medicine and clinical immunology Rennes, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou

المصدر: ISSN: 0006-4971.

مصطلحات موضوعية: [STAT]Statistics [stat], [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-03956080
https://hal.science/hal-03956080v1/document
https://hal.science/hal-03956080v1/file/S0006497122079265.pdf
https://doi.org/10.1182/blood.2022015482

المؤلفون: Riller, Quentin, Fourgeaud, Jacques, Bruneau, Julie, de Ravin, Suk See, Smith, Grace, Fusaro, Mathieu, Meriem, Samy, Magerus, Aude, Luka, Marine, Abdessalem, Ghaith, Lhermitte, Ludovic, Jamet, Anne, Six, Emmanuelle, Magnani, Alessandra, Castelle, Martin, Lévy, Romain, Lecuit, Mathilde, Fournier, Benjamin, Winter, Sarah, Semeraro, Michaela, Pinto, Graziella, Abid, Hanène, Mahlaoui, Nizar, Cheikh, Nathalie, Florkin, Benoit, Frange, Pierre, Jeziorski, Eric, Suarez, Felipe, Sarrot-Reynauld, Françoise, Nouar, Dalila, Debray, Dominique, Lacaille, Florence, Picard, Capucine, Pérot, Philippe, Regnault, Béatrice, da Rocha, Nicolas, de Cevins, Camille, Delage, Laure, Pérot, Brieuc, Vinit, Angélique, Carbone, Francesco, Brunaud, Camille, Marchais, Manon, Stolzenberg, Marie-Claude, Asnafi, Vahid, Molina, Thierry, Rieux-Laucat, Frédéric, Notarangelo, Luigi, Pittaluga, Stefania, Jais, Jean Philippe, Moshous, Despina, Blanche, Stephane, Malech, Harry, Eloit, Marc, Cavazzana, Marina, Fischer, Alain, Ménager, Mickaël, Neven, Bénédicte

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Fédération pour la recherche en explorations et thérapeutiques innovantes in utéro (FETUS (URP 7328)), Université Paris Cité (UPCité), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Pathogenesis and Control of Chronic and Emerging Infections (PCCEI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université des Antilles (UA)-Etablissement français du don du sang Montpellier -Université de Montpellier (UM)

المصدر: ISSN: 0091-6749 ; Journal of Allergy and Clinical Immunology ; https://hal.science/hal-03980119 ; Journal of Allergy and Clinical Immunology, 2023, ⟨10.1016/j.jaci.2022.12.822⟩.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio], [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: PUBMEDCENTRAL: PMC10336473

الاتاحة: https://hal.science/hal-03980119
https://hal.science/hal-03980119v1/document
https://hal.science/hal-03980119v1/file/nihms-1915167.pdf
https://doi.org/10.1016/j.jaci.2022.12.822

المؤلفون: García-García, Ana, Pérez de Diego, Rebeca, Flores, Carlos, Rinchai, Darawan, Solé-Violán, Jordi, Deyà-Martínez, Àngela, García-Solis, Blanca, Lorenzo-Salazar, José M., Hernández-Brito, Elisa, Lanz, Anna-Lisa, Moens, Leen, Bucciol, Giorgia, Almuqamam, Mohamed, Domachowske, Joseph B., Colino, Elena, Santos-Perez, Juan Luis, Marco, Francisco M., Pignata, Claudio, Bousfiha, Aziz, Turvey, Stuart E., Bauer, Stefanie, Haerynck, Filomeen, Ocejo-Vinyals, Javier Gonzalo, Lendinez, Francisco, Prader, Seraina, Naumann-Bartsch, Nora, Pachlopnik Schmid, Jana, Biggs, Catherine M., Hildebrand, Kyla, Dreesman, Alexandra, Cárdenes, Miguel Ángel, Ailal, Fatima, Benhsaien, Ibtihal, Giardino, Giuliana, Molina-Fuentes, Agueda, Fortuny, Claudia, Madhavarapu, Swetha, Conway, Daniel H., Prando, Carolina, Schidlowski, Laire, Martínez de Saavedra Álvarez, María Teresa, Alfaro, Rafael, Rodríguez de Castro, Felipe, Kindle, Gerhard, Mahlaoui, Nizar, Seidel, Markus G., Vassilios, Lougaris, Seppänen, Mikko R.J., Abel, Laurent, Aiuti, Alessandro, Al-Muhsen, Saleh, Al-Mulla, Fahd, Anderson, Mark S., Andreakos, Evangelos, Arias, Andrés A., Baris Feldman, Hagit, Belot, Alexandre, Bogunovic, Dusan, Bolze, Alexandre, Bondarenko, Anastasiia, Bousfiha, Ahmed A., Brodin, Petter, Bryceson, Yenan, Bustamante, Carlos D., Butte, Manish J., Casari, Giorgio, Christodoulou, John, Condino-Neto, Antonio, Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Desai, Murkesh, Drolet, Beth A., El Baghdadi, Jamila, Espinosa-Padilla, Sara, Fellay, Jacques, Franco, José Luis, Froidure, Antoine, Gregersen, Peter K., Grimbacher, Bodo, Hagin, David, Halwani, Rabih, Hammarström, Lennart, Heath, James R., Henrickson, Sarah E., Hsieh, Elena W.Y., Husebye, Eystein, Imai, Kohsuke, Itan, Yuval, Jarvis, Erich D., Karamitros, Timokratis, Kisand, Kai, Ku, Cheng-Lung, Lau, Yu-Lung, Ling, Yun, Lucas, Carrie L., Maniatis, Tom, Mansouri, Davood, Meyts, Isabelle, Milner, Joshua D., Mironska, Kristina, Mogensen, Trine H., Morio, Tomohiro, Ng, Lisa F.P., Notarangelo, Luigi D., Novelli, Antonio, Novelli, Giuseppe, O’Farrelly, Cliona, Okada, Satoshi, Okamoto, Keisuke, Ozcelik, Tayfun, Pan-Hammarström, Qiang, Pape, Jean W., Perez de Diego, Rebecca, Perlin, David S., Pesole, Graziano, Planas, Anna M., Pujol, Aurora, Quintana-Murci, Lluis, Ramaswamy, Sathishkumar, Renia, Laurent, Resnick, Igor, Rodríguez-Gallego, Carlos, Sancho-Shimizu, Vanessa, Sediva, Anna, Seppänan, Mikko R.J., Shahrooei, Mohammed, Shcherbina, Anna, Slaby, Ondrej, Snow, Andrew L., Soler-Palacín, Pere, Spaan, András N., Tancevski, Ivan, Tangye, Stuart G., Tayoun, Ahmad Abou, Uddin, K M Furkan, Uddin, Mohammed J., van de Beek, Diederik, Vinh, Donald C., von Bernuth, Horst, Wauters, Joost, Zatz, Mayana, Zawadzki, Pawel, Su, Helen C., Casanova, Jean-Laurent, Hauck, Fabian, Puel, Anne, Bastard, Paul, Boisson, Bertrand, Jouanguy, Emmanuelle, Cobat, Aurélie, Zhang, Qian, Alsina, Laia, ESID Registry Working Party, missing, COVID Human Genetic Effort, missing

المصدر: JOURNAL OF EXPERIMENTAL MEDICINE ; ISSN: 0022-1007 ; ISSN: 1540-9538

مصطلحات موضوعية: Medicine and Health Sciences, Immunology, Immunology and Allergy

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01GW9ZJRV1ZGYCN1R5E69M6JXF; http://doi.org/10.1084/jem.20220170; https://biblio.ugent.be/publication/01GW9ZJRV1ZGYCN1R5E69M6JXF/file/01GW9ZJZZVGDEF2RZNGB11Q4H9

الاتاحة: https://biblio.ugent.be/publication/01GW9ZJRV1ZGYCN1R5E69M6JXF
http://hdl.handle.net/1854/LU-01GW9ZJRV1ZGYCN1R5E69M6JXF
https://doi.org/10.1084/jem.20220170
https://biblio.ugent.be/publication/01GW9ZJRV1ZGYCN1R5E69M6JXF/file/01GW9ZJZZVGDEF2RZNGB11Q4H9

المؤلفون: Cheminant, Morgane, Fox, Thomas A, Alligon, Mickael, Bouaziz, Olivier, Neven, Bénédicte, Moshous, Despina, Blanche, Stephane, Guffroy, Aurélien, Fieschi, Claire, Malphettes, Marion, Schleinitz, Nicolas, Perlat, Antoinette, Viallard, Jean-François, Dhedin, Nathalie, Sarrot-Reynauld, Francoise, Durieu, Isabelle, Humbert, Sebastien, Fouyssac, Fanny, Barlogis, Vincent, Carpenter, Ben, Hough, Rachael E, Laurence, Arian Dominic John, Marçais, Ambroise, Chakraverty, Ronjon, Hermine, Olivier, Fischer, Alain, Burns, Siobhan O, Mahlaoui, Nizar, Morris, Emma C, Suarez, Felipe

المصدر: Blood , 141 (1) pp. 60-71. (2023)

مصطلحات موضوعية: Clinical Trials and Observations, Immunobiology and Immunotherapy, Transplantation

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10158337/1/Cheminant%20et%20al%20R2.pdf; https://discovery.ucl.ac.uk/id/eprint/10158337/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10158337/1/Cheminant%20et%20al%20R2.pdf
https://discovery.ucl.ac.uk/id/eprint/10158337/

المؤلفون: Maccari, Maria Elena, Wolkewitz, Martin, Schwab, Charlotte, Lorenzini, Tiziana, Leiding, Jennifer W, Aladjdi, Nathalie, Abolhassani, Hassan, Abou-Chahla, Wadih, Aiuti, Alessandro, Azarnoush, Saba, Baris, Safa, Barlogis, Vincent, Barzaghi, Federica, Baumann, Ulrich, Bloomfield, Marketa, Bohynikova, Nadezda, Bodet, Damien, Boutboul, David, Bucciol, Giorgia, Buckland, Matthew S, Burns, Siobhan O, Cancrini, Caterina, Cathébras, Pascal, Cavazzana, Marina, Cheminant, Morgane, Chinello, Matteo, Ciznar, Peter, Coulter, Tanya I, D'Aveni, Maud, Ekwall, Olov, Eric, Zelimir, Eren, Efrem, Fasth, Anders, Frange, Pierre, Fournier, Benjamin, Garcia-Prat, Marina, Gardembas, Martine, Geier, Christoph, Ghosh, Sujal, Goda, Vera, Hammarstrom, Lennart, Hauck, Fabian, Heeg, Maximilian, Heropolitanska-Pliszka, Edyta, Hilfanova, Anna, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard R, Klemann, Christian, Koletsi, Patra, Koltan, Sylwia, Kondratenko, Irina, Körholz, Julia, Krüger, Renate, Jeziorski, Eric, Levy, Romain, Le Guenno, Guillaume, Lefevre, Guillaume, Lougaris, Vassilios, Marzollo, Antonio, Mahlaoui, Nizar, Malphettes, Marion, Meinhardt, Andrea, Merlin, Etienne, Meyts, Isabelle, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neubert, Jennifer, Neven, Benedicte, Nieters, Alexandra, Nove-Josserand, Raphaele, Oksenhendler, Eric, Ozen, Ahmet, Olbrich, Peter, Perlat, Antoinette, Pac, Malgorzata, Schmid, Jana Pachlopnik, Pacillo, Lucia, Parra-Martinez, Alba, Paschenko, Olga, Pellier, Isabelle, Sefer, Asena Pinar, Plebani, Alessandro, Plantaz, Dominique, Prader, Seraina, Raffray, Loic, Ritterbusch, Henrike, Riviere, Jacques G, Rivalta, Beatrice, Rusch, Stephan, Sakovich, Inga, Savic, Sinisa, Scheible, Raphael, Schleinitz, Nicolas, Schuetz, Catharina, Schulz, Ansgar, Sediva, Anna, Semeraro, Michaela, Sharapova, Svetlana O, Shcherbina, Anna, Slatter, Mary A, Sogkas, Georgios, Soler-Palacin, Pere, Speckmann, Carsten, Stephan, Jean-Louis, Suarez, Felipe, Tommasini, Alberto, Trück, Johannes, Uhlmann, Annette, van Aerde, Koen J, van Montfrans, Joris, von Bernuth, Horst, Warnatz, Klaus, Williams, Tony, Worth, Austen Jj, Ip, Winnie, Picard, Capucine, Catherinot, Emilie, Nademi, Zohreh, Grimbacher, Bodo, Forbes Satter, Lisa R, Kracker, Sven, Chandra, Anita, Condliffe, Alison M, Ehl, Stephan, European Society for Immunodeficiencies Registry Working, Party

المصدر: Journal of Allergy and Clinical Immunology , 152 (4) 984-996.e10. (2023)

مصطلحات موضوعية: APDS, CTLA-4, ESID, IEI, NFκB1, PI3K, PIK3CD, PIK3R1, STAT3, immunodeficiency

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10174724/1/revisedAPDSManuscript_clean.pdf; https://discovery.ucl.ac.uk/id/eprint/10174724/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10174724/1/revisedAPDSManuscript_clean.pdf
https://discovery.ucl.ac.uk/id/eprint/10174724/