المؤلفون: Peel, Jessica, Yang, Rui, Le Voyer, Tom, Gervais, Adrian, Rosain, Jérémie, Bastard, Paul, Behere, Anish, Cederholm, Axel, Bodansky, Aaron, Seeleuthner, Yoann, Conil, Clément, Ding, Jing-Ya, Lei, Wei-Te, Bizien, Lucy, Soudee, Camille, Migaud, Mélanie, Ogishi, Masato, Yatim, Ahmad, Lee, Danyel, Bohlen, Jonathan, Perpoint, Thomas, Perez, Laura, Messina, Fernando, Genet, Roxana, Karkowski, Ludovic, Blot, Mathieu, Lafont, Emmanuel, Toullec, Laurie, Goulvestre, Claire, Mehlal-Sedkaoui, Souad, Sallette, Jérôme, Martin, Fernando, Puel, Anne, Jouanguy, Emmanuelle, Anderson, Mark, Landegren, Nils, Tiberghien, Pierre, Abel, Laurent, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Ku, Cheng-Lung, Casanova, Jean-Laurent

المصدر: The Journal of Clinical Investigation. 134(8)

مصطلحات موضوعية: Autoimmune diseases, Cytokines, Genetics, Immunology, Adult, Humans, Autoantibodies, Autoimmune Diseases, Genetic Predisposition to Disease, Genotype, HLA-DRB1 Chains, Mycobacterium Infections, Nontuberculous

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1614554h
https://escholarship.org/content/qt1614554h/qt1614554h.pdf

المؤلفون: Arango-Franco, Carlos A., Ogishi, Masato, Unger, Susanne, Delmonte, Ottavia M., Orrego, Julio César, Yatim, Ahmad, Velasquez-Lopera, Margarita M., Zea-Vera, Andrés F., Bohlen, Jonathan, Chbihi, Marwa, Fayand, Antoine, Sánchez, Juan Pablo, Rojas, Julian, Seeleuthner, Yoann, Le Voyer, Tom, Philippot, Quentin, Payne, Kathryn J., Gervais, Adrian, Erazo-Borrás, Lucia V., Correa-Londoño, Luis A., Cederholm, Axel, Gallón-Duque, Alejandro, Goncalves, Pedro, Doisne, Jean-Marc, Horev, Liran, Charmeteau-de Muylder, Bénédicte, Álvarez, Jesús Á., Arboleda, Diana M., Pérez-Zapata, Lizet, Vásquez-Echeverri, Estefanía, Moncada-Vélez, Marcela, López, Juan A., Caicedo, Yolanda, Palterer, Boaz, Patiño, Pablo J., Montoya, Carlos J., Chaldebas, Matthieu, Zhang, Peng, Nguyen, Tina, Ma, Cindy S., Jeljeli, Mohamed, Alzate, Juan F., Cabarcas, Felipe, Khan, Taushif, Rinchai, Darawan, Prétet, Jean-Luc, Boisson, Bertrand, Marr, Nico, Ibrahim, Ruba, Molho-Pessach, Vered, Boisson-Dupuis, Stéphanie, Kiritsi, Dimitra, Barata, João T., Landegren, Nils, 1986, Neven, Bénédicte, Abel, Laurent, Lisco, Andrea, Béziat, Vivien, Jouanguy, Emmanuelle, Bustamante, Jacinta, Di Santo, James P., Tangye, Stuart G., Notarangelo, Luigi D., Cheynier, Rémi, Natsuga, Ken, Arias, Andrés A., Luis Franco, José, Warnatz, Klaus, Casanova, Jean-Laurent, Puel, Anne

المصدر: Journal of Clinical Investigation. 134(19)

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-544279
https://doi.org/10.1172/jci180251
https://uu.diva-portal.org/smash/get/diva2:1917567/FULLTEXT01.pdf

المؤلفون: Le Voyer, Tom, Renkilaraj, Majistor Raj Luxman Maglorius, Moriya, Kunihiko, Pérez Lorenzo, Malena, Nguyen, Tina, Gao, Liwei, Rubin, Tamar, Cederholm, Axel, Ogishi, Masato, Arango-Franco, Carlos A., Béziat, Vivien, Lévy, Romain, Migaud, Mélanie, Rapaport, Franck, Itan, Yuval, Deenick, Elissa K., Cortese, Irene, Lisco, Andrea, Boztug, Kaan, Abel, Laurent, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Frosk, Patrick, Ma, Cindy S., Landegren, Nils, 1986, Celmeli, Fatih, Casanova, Jean- Laurent, Tangye, Stuart G., Puel, Anne

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 121(37)

مصطلحات موضوعية: RelB deficiency, NF-kappa B pathway, autoantibodies, immunodeficiency, type I IFNs

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-544032
https://doi.org/10.1073/pnas.2321794121
https://uu.diva-portal.org/smash/get/diva2:1916731/FULLTEXT01.pdf

المؤلفون: Asano, Takaki, Khourieh, Joëlle, Zhang, Peng, Rapaport, Franck, Spaan, András N, Li, Juan, Lei, Wei-Te, Pelham, Simon J, Hum, David, Chrabieh, Maya, Han, Ji Eun, Guérin, Antoine, Mackie, Joseph, Gupta, Sudhir, Saikia, Biman, Baghdadi, Jamila EI, Fadil, Ilham, Bousfiha, Aziz, Habib, Tanwir, Marr, Nico, Ganeshanandan, Luckshman, Peake, Jane, Droney, Luke, Williams, Andrew, Celmeli, Fatih, Hatipoglu, Nevin, Ozcelik, Tayfun, Picard, Capucine, Abel, Laurent, Tangye, Stuart G, Boisson-Dupuis, Stéphanie, Zhang, Qian, Puel, Anne, Béziat, Vivien, Casanova, Jean-Laurent, Boisson, Bertrand

المصدر: Journal of Experimental Medicine. 218(8)

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

وصف الملف: application/pdf

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

المؤلفون: Boisson-Dupuis, Stéphanie, Bastard, Paul, Béziat, Vivien, Bustamante, Jacinta, Cobat, Aurélie, Jouanguy, Emmanuelle, Puel, Anne, Rosain, Jérémie, Zhang, Qian, Zhang, Shen-Ying, Boisson, Bertrand

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University New York, Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm 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), Université Paris-Cité., Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), ANRS ECTZ170784-ANRS0073, ARC Foundation ARCAGEING2022040004944, ITMO Cancer of Aviesan andINCa within the framework of the 2021–2030 Cancer Control Strategy, ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-21-CE15-0034,CARMIL2,Bases moléculaires, cellulaires et immunologiques de la déficience combinée résultant de mutations dans CARMIL2(2021), ANR-24-CE15-5334,PTCRA,Déficit héréditaire complet et partiel en pT? humain(2024), ANR-24-CE15-1236,KDGenImmu,Déficits immunitaires monogéniques responsables de la maladie de Kawasaki: des nouvelles approches génétiques et immunologiques(2024), ANR-24-CE15-5475,ILC_BY_DESIGN,Modéliser le devenir, la fonction et la 'fitness' des ILC humaines.(2024), ANR-21-RHUS-0008,COVIFERON,Covid-19 and interferons: from discovery to therapy(2021), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), 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-21-CE17-0014,KREM-AIF,KREMEN2, un nouvel inhibiteur de l'auto-inflammation médié par NF-kB impliqué dans les maladies généiques humaines(2021), ANR-21-LIBA-0002,AAILC,Autoanticorps contre les interférons de type I chez les patients libanais hospitalisés pour COVID-19.(2021), ANR-21-COVR-0039,GenMIS-C,Recherche des Déficits immunitaires innées monogéniques prédisposant au syndrome inflammatoire multisystémique chez l'enfant.(2021), ANR-22-CE15-0046,AI2D,Autoanticorps anti-interférons et maladies infectieuses associées(2022), ANR-22-CE92-0008,MAFMACRO,Genetic predisposition and the role of myeloid cells in the susceptibility to mycobacterial infection(2022), ANR-22-CE92-0004,GENFLU,Rôle de la prédisposition génétique et les autoanticorps anti-IFN dans le développement des infections grippales sévères ?(2022), ANR-23-CE15-0011,AIDIRAK,Autoinflammation chez des patients présentant un déficit héréditaire en IRAK4 : un paradoxe(2023), European Project: 101057100,HORIZON-HLTH-2021-DISEASE-04 ,UNDINE(2022)

المصدر: ISSN: 0091-6749 ; Journal of Allergy and Clinical Immunology ; https://hal.science/hal-04876055 ; Journal of Allergy and Clinical Immunology, 2024, ⟨10.1016/j.jaci.2024.12.1078⟩.

مصطلحات موضوعية: Mendelian and monogenic infections Inborn errors of immunity infections protection against common pathogens IEI: inborn errors of immunity GWAS: genome-wide association studies MSMD: Mendelian susceptibility to mycobacterial disease EM: environmental mycobacteria, Mendelian and monogenic infections, Inborn errors of immunity, infections, protection against common pathogens IEI: inborn errors of immunity GWAS: genome-wide association studies MSMD: Mendelian susceptibility to mycobacterial disease EM: environmental mycobacteria, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/grantAgreement//101057100/EU/The human genetic and immunological determinants of the clinical manifestations of SARS-CoV-2 infection: Towards personalised medicine/UNDINE

الاتاحة: https://hal.science/hal-04876055
https://hal.science/hal-04876055v1/document
https://hal.science/hal-04876055v1/file/monogenic%20landscape.pdf
https://doi.org/10.1016/j.jaci.2024.12.1078

المؤلفون: Momenilandi, Mana, Lévy, Romain, Sobrino, Steicy, Li, Jingwei, Lagresle-Peyrou, Chantal, Esmaeilzadeh, Hossein, Fayand, Antoine, Le Floc'h, Corentin, Guerin, Antoine, Della Mina, Erika, Shearer, Debra, Delmonte, Ottavia M., Yatim, Ahmad, Mulder, Kevin, Mancini, Mathieu, Rinchai, Darawan, Denis, Adeline, Neehus, Anna-Lena, Balogh, Karla, Brendle, Sarah, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Seeleuthner, Yoann, Deswarte, Caroline, Bessot, Boris, Cremades, Cassandre, Materna, Marie, Cederholm, Axel, Ogishi, Masato, Philippot, Quentin, Beganovic, Omer, Ackermann, Mania, Wuyts, Margareta, Khan, Taushif, Fouéré, Sebastien, Herms, Florian, Chanal, Johan, Palterer, Boaz, Bruneau, Julie, Molina, Thierry J., Leclerc-Mercier, Stéphanie, Prétet, Jean-Luc, Youssefian, Leila, Vahidnezhad, Hassan, Parvaneh, Nima, Claeys, Kristl G., Schrijvers, Rik, Luka, Marine, Pérot, Philippe, Fourgeaud, Jacques, Nourrisson, Céline, Poirier, Philippe, Jouanguy, Emmanuelle, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Notarangelo, Luigi D., Christensen, Neil, Landegren, Nils, Abel, Laurent, Marr, Nico, Six, Emmanuelle, Langlais, David, Waterboer, Tim, Ginhoux, Florent, Ma, Cindy S., Tangye, Stuart G., Meyts, Isabelle, Lachmann, Nico, Hu, Jiafen, Shahrooei, Mohammad, Bossuyt, Xavier, Casanova, Jean-Laurent, Béziat, Vivien

مصطلحات موضوعية: Immunology in the medical area, Immunologi inom det medicinska området, Hematology, Hematologi, Cell and Molecular Biology, Cell- och molekylärbiologi

وصف الملف: application/pdf

Relation: Cell, 0092-8674, 2024, 187:11, s. 2817-2837.e31; PMID 38701783; ISI:001271502700001

الاتاحة: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-540805
https://doi.org/10.1016/j.cell.2024.04.009

المؤلفون: Peel, Jessica, N, Yang, Rui, Le Voyer, Tom, Gervais, Adrian, Rosain, Jérémie, Bastard, Paul, Behere, Anish, Cederholm, Axel, Bodansky, Aaron, Seeleuthner, Yoann, Conil, Clément, Ding, Jing-Ya, Lei, Wei-Te, Bizien, Lucy, Soudee, Camille, Migaud, Mélanie, Ogishi, Masato, Yatim, Ahmad, Lee, Danyel, Bohlen, Jonathan, Perpoint, Thomas, Perez, Laura, Messina, Fernando, Genet, Roxana, Karkowski, Ludovic, Blot, Mathieu, Lafont, Emmanuel, Toullec, Laurie, Goulvestre, Claire, Mehlal-Sedkaoui, Souad, Sallette, Jérôme, Martin, Fernando, Puel, Anne, Jouanguy, Emmanuelle, Anderson, Mark, S, Landegren, Nils, Tiberghien, Pierre, Abel, Laurent, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Ku, Cheng-Lung, Casanova, Jean-Laurent

المساهمون: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University New York, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hopital Saint-Louis AP-HP (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Necker - Enfants Malades AP-HP, Uppsala University, University of California San Francisco (UC San Francisco), University of California (UC), Chang Gung University Taïwan, Hsinchu Cathay General Hospital (CGH), Hospices Civils de Lyon (HCL), Hospital Nacional de Pediatría Prof. Dr Juan P. Garrahan Buenos Aires, Hospital Francisco Javier Muñiz, CHR de Metz-Thionville, Hopital d'instruction des armées Sainte-Anne Toulon (HIA), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Paris Cité (UPCité), Hôpital Cochin AP-HP, Laboratoire CERBA Saint Ouen l'Aumône, Karolinska Institute, Etablissement Français du Sang La Plaine Saint-Denis (EFS), Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) (RIGHT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang Bourgogne-Franche-Comté (EFS BFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté COMUE (UBFC)-Université Bourgogne Franche-Comté COMUE (UBFC), Chang Gung Memorial Hospital Taipei (CGMH), Howard Hughes Medical Institute Boston (HHMI), Howard Hughes Medical Institute (HHMI)-Harvard Medical School Boston (HMS), ANR-22-CE92-0008,MAFMACRO,Genetic predisposition and the role of myeloid cells in the susceptibility to mycobacterial infection(2022), ANR-22-CE15-0046,AI2D,Autoanticorps anti-interférons et maladies infectieuses associées(2022), 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)

المصدر: ISSN: 1558-8238 ; The Journal of clinical investigation ; https://hal.science/hal-04815928 ; The Journal of clinical investigation, 2024, 134 (8), pp.e178263. ⟨10.1172/JCI178263⟩.

مصطلحات موضوعية: Autoimmune diseases, Cytokines, Genetics, Immunology, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38470480; PUBMED: 38470480; PUBMEDCENTRAL: PMC11014650

الاتاحة: https://hal.science/hal-04815928
https://hal.science/hal-04815928v1/document
https://hal.science/hal-04815928v1/file/jci-134-178263.pdf
https://doi.org/10.1172/JCI178263

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

المساهمون: Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Foch Suresnes, UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay, Virologie et Immunologie Moléculaires (VIM (UR 0892)), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), AP-HP - Hôpital Cochin Broca Hôtel Dieu Paris, Hôpital Ambroise Paré AP-HP, This paper is dedicated to the memory of Pierre Vassalli. We thank the patients, their relatives and their physicians for participating in this study, E. Williams, Y. Nemirovskaya, M. Woollett, M. Chrabieh, A. Bejou, L. Lorenzo and D. Liu for administrative assistance, T. Kochetkov for technical assistance, all of the members of the Laboratory of Human Genetics of Infectious Disease for discussions, I. Müller-Fleckenstein, B. Fleckenstein and A. Rötig, the staff at the Flow Cytometry Resource Center at the Rockefeller University (FCRC, RRID:SCR_017694), the Viral Vectors and Gene Transfer Platform (VVTG)-SFR Necker US24. We thank S. Elledge (Brigham and Women’s Hospital, Harvard University Medical School) for providing the VirScan phage library used in this study, the Empire State Stem Cell Fund for providing support through NYSDOH Contract C023046, the staff at the National Institutes of Health (NIH) Tetramer Core Facility (NTCF) for providing the MR1 tetramer, which was developed jointly with J. McCluskey, J. Rossjohn and D. Fairlie. This study was supported in part by W. E. Ford (General Atlantic) and G. Caillaux (General Atlantic), by grants from the General Atlantic Foundation, the St. Giles Foundation, The Rockefeller University, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris Cité University, Sidra Medicine, the National Institute of Allergy and Infectious Diseases (R01AI095983 to J. Bustamante and J.-L.C., U19AI162568 to J.-L.C. and U19AI142737 to S.B.-D., U19AI135990 to M.S.G.), the National Center for Research Resources, the National Center for Advancing Sciences of the National Institutes of Health (UL1TR001866), the French National Research Agency (ANR) under the “Investments for the Future” program (ANR-10-IAHU-01), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID), ANRS (ECTZ170784-ANRS0073 to S.B.-D.), MAFMACRO (ANR-22-CE92-0008 to J. Bustamante and N.L.), ECOS-NORD (C19S01-63407 to J. Bustamante and J.L.F.), the French Foundation for Medical Research (FRM) (EQU201903007798) and the SCOR Corporate Foundation for Science. N.L. received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation program (grant agreement no. 852178), Deutsche Forschungsgemeinschaft (DFG, German Research Foundation, LA 3680/9-1) and under Germany’s Excellence Strategy, EXC 2155, project number 390874280 and REBIRTH “Förderung aus Mitteln des Niedersächsischen Vorab”. A.A.A., C.A.A.-F., L.E.-B. and J.L.F. were supported by the Ministerio de Ciencia Tecnología e Innovación MINCIENCIAS (111574455633/CT 713-2016 and 111584467551/CT 415-2020), the Movilidad Académica ECOS-Nord/MINCIENCIAS (CT 806-2018/046-2019), the Comité para el Desarrollo de la Investigación, CODI—Universidad de Antioquia (CT 2017-16003), the Jeffrey Modell Foundation and the Fundación Diana Garcia de Olarte para las Inmunodeficiencias Primarias (FIP, Colombia). A.-L.N. was supported by the international PhD program of the Imagine Institute, the Bettencourt-Schueller Foundation and the fin de thèse program of the FRM (FDT202204015102). M.O. was supported by the David Rockefeller Graduate Program, the New York Hideyo Noguchi Memorial Society (HNMS), the Funai Foundation for Information Technology (FFIT) and the Honjo International Scholarship Foundation (HISF). R.Y. was supported by the Immune Deficiency Foundation and the Stony Wold-Herbert Fund. A.M.L. and C.F.N. were supported by the Abby and Howard P. Milstein Program in Chemical Biology and Translational Medicine. T.L.V., P.B. and J. Rosain were supported by the MD-PhD program of the Imagine Institute with the support of the Bettencourt-Schueller Foundation. J. Rosain was supported by the Inserm PhD program (poste d’accueil Inserm). D.L. was supported by a Fondation pour la Recherche Médicale (FRM) fellowship for medical residents and fellows (FDM202006011282). H.L. is supported by the LabEX-IBEID. J. Bohlen is an EMBO postdoctoral fellow supported by a Marie Curie Research grant. M.K. is supported by the CMMC Senior Research Group Program (SRG III, PSP 7102-9530-0004-04). This work was supported by a National Institutes of Health (NIH) award (AI136831, P30AI168439) (to L.S.S.), Texas Biomed Cowles, Forum Postdoctoral Fellowship and the Interdisciplinary NexGen TB Research Advancement Center (IN-TRAC) Pilot Grant (to S. Pahari). H.S. was supported by LVL medical, Oxyvie and the Foch Foundation. C.S.M. and S.G.T. are supported by Investigator Grants awarded by the National Health and Medical Research Council (NHMRC) of Australia (grant ID 2017463, 1176665)., ANR-22-CE92-0008,MAFMACRO,Genetic predisposition and the role of myeloid cells in the susceptibility to mycobacterial infection(2022)

المصدر: ISSN: 0028-0836.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/39198650; PUBMED: 39198650; WOS: 001301256200004

الاتاحة: https://hal.science/hal-04836045
https://hal.science/hal-04836045v1/document
https://hal.science/hal-04836045v1/file/s41586-024-07866-3.pdf
https://doi.org/10.1038/s41586-024-07866-3

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

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Hôpital Haut-Lévêque CHU Bordeaux, CHU Bordeaux, Hôpital Ambroise Paré AP-HP, Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), AP-HP - Hôpital Bichat - Claude Bernard Paris, Immuno-Rhumatologie Moléculaire (IRM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Fédération Hospitalo-Universitaire (OMICARE), Centre de Recherche d’Immunologie et d’Hématologie Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Centre de Recherche en Biomédecine de Strasbourg (CRBS), Nouvel Hôpital Civil de Strasbourg, Les Hôpitaux Universitaires de Strasbourg (HUS), Centre de recherche Cardio-Thoracique de Bordeaux Bordeaux (CRCTB), Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux-Institut National de la Santé et de la Recherche Médicale (INSERM), Rockefeller University New York, CIC Bordeaux, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Howard Hughes Medical Institute New York (HHMI), Howard Hughes Medical Institute (HHMI)-New York University School of Medicine, NYU System (NYU)-NYU System (NYU)-Rockefeller University New York -Columbia University Irving Medical Center (CUIMC), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-22-CE92-0008,MAFMACRO,Genetic predisposition and the role of myeloid cells in the susceptibility to mycobacterial infection(2022), ANR-10-IDEX-0002,UNISTRA,Par-delà les frontières, l'Université de Strasbourg(2010), ANR-20-SFRI-0012,STRAT'US,Façonner les talents en formation et en recherche à l'Université de Strasbourg(2020), European Project: 852178,iPSC2Therapy

المصدر: ISSN: 0092-8674.

مصطلحات موضوعية: PAP, chemotaxis, cystic lung disease, macrophage, monocyte, recurrent infection, [SDV.BC]Life Sciences [q-bio]/Cellular Biology

Relation: info:eu-repo/semantics/altIdentifier/pmid/38157855; info:eu-repo/grantAgreement//852178/EU/From iPSC-Macrophage Biology Towards Regenerative Therapies Targeting Respiratory Infections/iPSC2Therapy; PUBMED: 38157855; PUBMEDCENTRAL: PMC10842692

الاتاحة: https://hal.science/hal-04701934
https://hal.science/hal-04701934v1/document
https://hal.science/hal-04701934v1/file/islandora_171852.pdf
https://doi.org/10.1016/j.cell.2023.11.036

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

المساهمون: HUS Children and Adolescents, Children's Hospital, Clinicum

مصطلحات موضوعية: IL-23, inborn error of immunity, JAK2, MCTS1, MSMD, mycobacterium, translation re-initiation, X-linked disease, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: The authors thank all the patients, their relatives and the treatment teams for their cooperation in this study. We also thank: all the members of the HGID laboratory for helpful discussions, Christine Rivalain, Lazaro Lorenzo-Diaz, Maya Chrabieh, Mark Woollet, Erin Williams, Dana Liu, and Yelena Nemirovskaya for administrative assistance. The INEM flow-cytometry facility, in particular Jerome Megret, for their support and services. We thank the National Institutes of Health Tetramer Core Facility for providing the MR1 tetramer, which was developed jointly with Dr. JamesMcCluskey, Dr. Jamie Rossjohn, and Dr. David Fairlie. Funding: the Laboratory of Human Genetics of Infectious Diseases was funded by the Howard Hughes Medical Institute, The Rockefeller University, the St. Giles Foundation, the National Institutes of Health (NIH) (R37AI095983), the National Center for Research Resources and the National Center for Advancing Sciences, NIH (UL1TR001866), the Shapiro-Silverberg Fund for the Advancement of Translational Research, the French Foundation for Medical Research (FRM) (EQU201903007798), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID), the French National Research Agency (ANR) under the “Investments for the future” program (ANR-10-IAHU-01), ANR-GENMSMD (ANR-16-CE17-0005-01), ANR-MAFMACRO (ANR-22-CE92- 0008), the European Union's Horizon 2020 research and innovation program under grant agreement no. 824110 (EASI-genomics), the Square Foundation, Grandir – Fonds de solidarité pour l'enfance, the SCOR Corporate Foundation for Science, Institut National de la Santé et de la Recherche Médicale (INSERM), and Paris Cité University. N.M. was supported by Sidra Medicine and the Qatar National Research Fund (grant no.: NPRP9-251-3-045). The Yale Center for Mendelian Genomics (UM1HG006504) was funded by the National Human Genome Research Institute, the Yale GSP Coordinating Center (U24 HG008956), and the Yale High-Performance Computing Center (S10OD018521). J.Bohlen was supported by a fellowship from EMBO and a Marie Curie Research grant. M.O. was supported by the David Rockefeller Graduate Program, the Funai Foundation for Information Technology (FFIT), the Honjo International Scholarship Foundation (HISF), the New York Hideyo Noguchi Memorial Society (HNMS). Q.P. was supported by the Assistance Publique – Hôpitaux de Paris (research year) and the MD-PhD program of Inserm (Ecole de l'Inserm Liliane Bettencourt). J.R. was supported by the Inserm PhD program for doctors of pharmacy (poste d'accueil Inserm). J.R. and T.L.-V. were supported by the Bettencourt-Schueller Foundation and the MD-PhD program of the Imagine Institute. A-L.N. was supported by the Bettencourt Schueller Foundation the International PhD program of the Imagine Institute and the Fondation pour la Recherche Médicale (FDT202204015102). Q. Zhou was supported by the “Outstanding Youth Talent Training Program” of the Children's Hospital of Fudan University. M. Momenilandi was supported by ANRS, Maladies infectieuses émergentes (ECTZ173053). J. Bohlen, J. Bustamante, Q. Zhang, and J.-L.C. conceived the study, designed the experiments, interpreted the data, and drafted the manuscript. J. Bohlen, Q. Zhou, Q. Zhang, C.C. Y.S. A.C. and L.A. analyzed WES data. J. Bohlen, Q. Zhou, M.R. Q.P. J.R. M.O. A.-L.N. C.A.A.F. A.S.L.H. L.E. J.E.H. C.Sc. C.So. T.L.-V. M.E. M.M. M.R. M.S. N.M. T.K. T.V. D.B. A.E. R.Y. A.Y. J. Peel, J. Puchan, M.M.-V. M.M.-F. F.S. V.B. S.B.-D. and Z.J. performed experiments and generated figures. S.S. E.S. M.A.-S. G.E.G. N.Y. T.N. S.H. M.S. N.P. N.R. X.W. Q. Zhang, and J. Bustamante recruited patients and coordinated the clinical study protocol and sample collection. J. Bohlen, M.O. P.Z. and D.R. analyzed RNA-seq experiments. S.B.-D. A.T. J-.L.C. Q. Zhang, and J. Bustamante supervised experiments or analyses. All the authors discussed, revised, and approved the manuscript. J.-L.C. serves on the scientific advisory boards of ADMA Biologics Inc. Kymera Therapeutics, and Elixiron Immunotherapeutics. The authors thank all the patients, their relatives and the treatment teams for their cooperation in this study. We also thank: all the members of the HGID laboratory for helpful discussions, Christine Rivalain, Lazaro Lorenzo-Diaz, Maya Chrabieh, Mark Woollet, Erin Williams, Dana Liu, and Yelena Nemirovskaya for administrative assistance. The INEM flow-cytometry facility, in particular Jerome Megret, for their support and services. We thank the National Institutes of Health Tetramer Core Facility for providing the MR1 tetramer, which was developed jointly with Dr. JamesMcCluskey, Dr. Jamie Rossjohn, and Dr. David Fairlie. Funding: the Laboratory of Human Genetics of Infectious Diseases was funded by the Howard Hughes Medical Institute , The Rockefeller University , the St. Giles Foundation , the National Institutes of Health (NIH) ( R37AI095983 ), the National Center for Research Resources and the National Center for Advancing Sciences , NIH ( UL1TR001866 ), the Shapiro-Silverberg Fund for the Advancement of Translational Research , the French Foundation for Medical Research (FRM) ( EQU201903007798 ), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence ( ANR-10-LABX-62-IBEID ), the French National Research Agency (ANR) under the “Investments for the future” program ( ANR-10-IAHU-01 ), ANR-GENMSMD ( ANR-16-CE17-0005-01 ), ANR-MAFMACRO ( ANR-22-CE92- 0008 ), the European Union’s Horizon 2020 research and innovation program under grant agreement no. 824110 (EASI-genomics), the Square Foundation , Grandir – Fonds de solidarité pour l’enfance , the SCOR Corporate Foundation for Science , Institut National de la Santé et de la Recherche Médicale (INSERM), and Paris Cité University . N.M. was supported by Sidra Medicine and the Qatar National Research Fund (grant no.: NPRP9-251-3-045 ). The Yale Center for Mendelian Genomics ( UM1HG006504 ) was funded by the National Human Genome Research Institute , the Yale GSP Coordinating Center ( U24 HG008956 ), and the Yale High-Performance Computing Center ( S10OD018521 ). J.Bohlen was supported by a fellowship from EMBO and a Marie Curie Research grant . M.O. was supported by the David Rockefeller Graduate Program , the Funai Foundation for Information Technology (FFIT), the Honjo International Scholarship Foundation (HISF), the New York Hideyo Noguchi Memorial Society (HNMS). Q.P. was supported by the Assistance Publique – Hôpitaux de Paris (research year) and the MD-PhD program of Inserm (Ecole de l’Inserm Liliane Bettencourt). J.R. was supported by the Inserm PhD program for doctors of pharmacy (poste d’accueil Inserm). J.R. and T.L.-V. were supported by the Bettencourt-Schueller Foundation and the MD-PhD program of the Imagine Institute . A-L.N. was supported by the Bettencourt Schueller Foundation the International PhD program of the Imagine Institute and the Fondation pour la Recherche Médicale ( FDT202204015102 ). Q. Zhou was supported by the “Outstanding Youth Talent Training Program” of the Children’s Hospital of Fudan University . M. Momenilandi was supported by ANRS, Maladies infectieuses émergentes ( ECTZ173053 ).; Bohlen , J , Zhou , Q , Philippot , Q , Ogishi , M , Rinchai , D , Nieminen , T , Seyedpour , S , Parvaneh , N , Rezaei , N , Yazdanpanah , N , Momenilandi , M , Conil , C , Neehus , A L , Schmidt , C , Arango-Franco , C A , Voyer , T L , Khan , T , Yang , R , Puchan , J , Erazo , L , Roiuk , M , Vatovec , T , Janda , Z , Bagarić , I , Materna , M , Gervais , A , Li , H , Rosain , J , Peel , J N , Seeleuthner , Y , Han , J E , L'Honneur , A S , Moncada-Vélez , M , Martin-Fernandez , M , Horesh , M E , Kochetkov , T , Schmidt , M , AlShehri , M A , Salo , E , Saxen , H , ElGhazali , G , Yatim , A , Soudée , C , Sallusto , F , Ensser , A , Marr , N , Zhang , P , Bogunovic , D , Cobat , A , Shahrooei , M , Béziat , V , Abel , L , Wang , X , Boisson-Dupuis , S , Teleman , A A , Bustamante , J , Zhang , Q & Casanova , J L 2023 , ' Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria ' , Cell , vol. 186 , no. 23 , pp. 5114-5134.e27 . https://doi.org/10.1016/j.cell.2023.09.024; http://hdl.handle.net/10138/576480; 16fa6ada-d995-455f-a559-9967c3819b6f; 85175701992; 001115514300001

الاتاحة: http://hdl.handle.net/10138/576480

المؤلفون: Ogishi, Masato, Arias, Andrés Augusto, Yang, Rui, Han, Ji Eun, Zhang, Peng, Rinchai, Darawan, Halpern, Joshua, Mulwa, Jeanette, Keating, Narelle, Chrabieh, Maya, Lainé, Candice, Seeleuthner, Yoann, Ramírez-Alejo, Noé, Nekooie-Marnany, Nioosha, Guennoun, Andrea, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Kilic, Sara S., Minegishi, Yoshiyuki, Ehl, Stephan, Kaiser-Labusch, Petra, Kendir-Demirkol, Yasemin, Rozenberg, Flore, Errami, Abderrahmane, Zhang, Shen-Ying, Zhang, Qian, Bohlen, Jonathan, Philippot, Quentin, Puel, Anne, Jouanguy, Emmanuelle, Pourmoghaddas, Zahra, Bakhtiar, Shahrzad, Willasch, Andre M., Horneff, Gerd, Llanora, Genevieve, Shek, Lynette P., Chai, Louis Y.A., Tay, Sen Hee, Rahimi, Hamid H., Mahdaviani, Seyed Alireza, Nepesov, Serdar, Bousfiha, Aziz A., Erdeniz, Emine Hafize, Karbuz, Adem, Marr, Nico, Navarrete, Carmen, Adeli, Mehdi, Hammarstrom, Lennart, Abolhassani, Hassan, Parvaneh, Nima, Muhsen, Saleh Al, Alosaimi, Mohammed F., Alsohime, Fahad, Nourizadeh, Maryam, Moin, Mostafa, Arnaout, Rand, Alshareef, Saad, El-Baghdadi, Jamila, Genel, Ferah, Sherkat, Roya, Kiykim, Ayça, Yücel, Esra, Keles, Sevgi, Bustamante, Jacinta, Abel, Laurent, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie

Relation: http://repo.lib.tokushima-u.ac.jp/files/public/11/119390/20240718145151120039/jem_219_10_e20220094.pdf; AA00697559; AA12119243; http://repo.lib.tokushima-u.ac.jp/119390

الاتاحة: http://repo.lib.tokushima-u.ac.jp/119390

المؤلفون: Gourdan, Pierre, Colanic, Ivana, Blanc, Sibylle, Fina, Agnès, Baque-Juston, Marie, Solla, Federico, Giordano, Ana, Hubiche, Thomas, Rohrlich, Pierre, Barlogis, Vincent, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Giovannini-Chami, Lisa

مصطلحات موضوعية: Miscellanea

وصف الملف: text/html

Relation: http://adc.bmj.com/cgi/content/short/109/8/673; http://dx.doi.org/10.1136/archdischild-2024-327026

الاتاحة: http://adc.bmj.com/cgi/content/short/109/8/673
https://doi.org/10.1136/archdischild-2024-327026

المؤلفون: Casanova, Jean-Laurent, Tree, Timothy, Oram, Richard, Johnson, Matthew, Ogishi, Masato, Domingo-Vila, Clara, De Franco, Elisa, Wakeling, Matthew, Imane, Zineb, Resnick, Brittany, Williams, Evangelia, Galão, Rui, Caswell, Richard, Russ-Silsby, James, Seeleuthner, Yoann, Rinchai, Darawan, Fagniez, Iris, Benson, Basilin, Dufort, Matthew, Speake, Cate, Smithmyer, Megan, Hudson, Michelle, Dobbs, Rebecca, Hattersley, Andrew, Zhang, Peng, Boisson-Dupuis, Stephanie, Anderson, Mark, Quandt, Zoe

المصدر: Journal of Experimental Medicine, vol 221, iss 6

مصطلحات موضوعية: Infant, Newborn, Humans, Child, Preschool, B7-H1 Antigen, Diabetes Mellitus, Type 1, Programmed Cell Death 1 Receptor, Autoimmunity, Homozygote

وصف الملف: application/pdf

Relation: qt6gh1v9v5; https://escholarship.org/uc/item/6gh1v9v5

الاتاحة: https://escholarship.org/uc/item/6gh1v9v5

المؤلفون: Rosain, Jérémie, Kiykim, Ayca, Michev, Alexandre, Kendir-Demirkol, Yasemin, Rinchai, Darawan, Peel, Jessica N., Li, Hailun, Ocak, Suheyla, Ozdemir, Pinar Gokmirza, Le Voyer, Tom, Philippot, Quentin, Khan, Taushif, Neehus, Anna-Lena, Migaud, Mélanie, Soudée, Camille, Boisson-Dupuis, Stéphanie, Marr, Nico, Borghesi, Alessandro, Casanova, Jean-Laurent, Bustamante, Jacinta

المساهمون: Agence Nationale de la Recherche

المصدر: Journal of Clinical Immunology ; volume 44, issue 3 ; ISSN 0271-9142 1573-2592

الاتاحة: http://dx.doi.org/10.1007/s10875-024-01661-5
https://link.springer.com/content/pdf/10.1007/s10875-024-01661-5.pdf
https://link.springer.com/article/10.1007/s10875-024-01661-5/fulltext.html

المؤلفون: 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

المساهمون: National Institute of Allergy and Infectious Diseases, Rockefeller University, St. Giles Foundation, Institut National de la Santé et de la Recherche Médicale, Paris Cité University, Laboratoire d’Excellence Integrative—Biology of Emerging Infectious Diseases, French National Research Agency, ECOS-Nord/Ministerio de Ciencia, Tecnología e Innovación of Colombia, GENMSMD, National Health and Medical Research Council, American Association of Immunologists, Scheinberg Fellowship, Bettencourt-Schueller Foundation, Imagine Institute, David Rockefeller Graduate Program, Funai Foundation for Information Technology, Honjo International Scholarship Foundation, New York Hideyo Noguchi Memorial Society, Latin American Society for Primary Immunodeficiencies, ITMO Cancer of Aviesan, INCa

المصدر: Journal of Experimental Medicine ; volume 221, issue 5 ; ISSN 0022-1007 1540-9538

الاتاحة: http://dx.doi.org/10.1084/jem.20231044
https://rupress.org/jem/article-pdf/doi/10.1084/jem.20231044/1926753/jem_20231044.pdf

المؤلفون: Stewart, O'Jay, Gruber, Conor, Randolph, Haley E, Patel, Roosheel, Ramba, Meredith, Calzoni, Enrica, Huang, Lei Haley, Levy, Jay, Buta, Sofija, Lee, Angelica, Sazeides, Christos, Prue, Zoe, Hoytema van Konijnenburg, David P, Chinn, Ivan K, Pedroza, Luis A, Lupski, James R, Schmitt, Erica G, Cooper, Megan A, Puel, Anne, Peng, Xiao, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Okada, Satoshi, Martin-Fernandez, Marta, Orange, Jordan S, Casanova, Jean-Laurent, Milner, Joshua D, Bogunovic, Dusan

المصدر: Nature ; ISSN:1476-4687

Relation: https://doi.org/10.1038/s41586-024-08346-4; https://pubmed.ncbi.nlm.nih.gov/39743591

الاتاحة: https://doi.org/10.1038/s41586-024-08346-4
https://pubmed.ncbi.nlm.nih.gov/39743591

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

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

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

المؤلفون: Rapaport, Franck, Boisson, Bertrand, Gregor, Anne, Béziat, Vivien, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Jouanguy, Emmanuelle, Puel, Anne, Rosain, Jérémie, Zhang, Qian, Zhang, Shen-Ying, Gleeson, Joseph G., Quintana-Murci, Lluis, Casanova, Jean-Laurent, Abel, Laurent, Patin, Etienne

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2021 Jan . 118(3), 1-9.

URL الوصول: https://www.jstor.org/stable/27012222

المؤلفون: Le Voyer, Tom, Parent, Audrey, V, Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng, Bizien, Lucy, Hancioglu, Gonca, Ghillani-Dalbin, Pascale, Charuel, Jean-Luc, Philippot, Quentin, Gueye, Mame Sokhna, Maglorius Renkilaraj, Majistor Raj Luxman, Ogishi, Masato, Soudée, Camille, Migaud, Mélanie, Rozenberg, Flore, Momenilandi, Mana, Riller, Quentin, Imberti, Luisa, Delmonte, Ottavia, M, Müller, Gabriele, Keller, Baerbel, Orrego, Julio, Franco Gallego, William Alexander, 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, Bengi Celik, Jale, Astudillo, Camila, Winter, Sarah, Boisson-Dupuis, Stéphanie, Oksenhendler, Eric, Okada, Satoshi, Caluseriu, Oana, Ursini, Mathilde Valeria, Ballot, Eric, Lafarge, Geoffroy, Freiberger, Tomas, Arango-Franco, Carlos, A, Levy, Romain, 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, W Y, 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, R J, 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, K, M 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, F P, Mclean, Catriona, Guffroy, Aurélien, Derisi, Joseph, L, Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey, B, Holland, Steve, M, Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte, A, Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini, S, Lougaris, Vassilios, Hauck, Fabian, 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, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, José, Luis, 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, 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, G, Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa, L, Trouillet Assant, Sophie, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Roifman, Chaim, M, Landegren, Nils, Notarangelo, Luigi, D, Anderson, Mark, S, Casanova, Jean-Laurent, Puel, Anne

المساهمون: 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), Activation et transduction du signal dans les lymphocytes - Lymphocyte activation and signaling CIRI (CIRI-LYACTS), 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)-École normale supérieure de Lyon (ENS de Lyon), 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), Hospices Civils de Lyon (HCL), 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-LIBA-0002,AAILC,Autoanticorps contre les interférons de type I chez les patients libanais hospitalisés pour COVID-19.(2021), ANR-22-CE15-0046,AI2D,Autoanticorps anti-interférons et maladies infectieuses associées(2022), 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)

المصدر: ISSN: 0028-0836.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04815868
https://hal.science/hal-04815868v1/document
https://hal.science/hal-04815868v1/file/41586_2023_Article_6717.pdf
https://doi.org/10.1038/s41586-023-06717-x

المؤلفون: Ogishi, Masato, Yang, Rui, Rodriguez, Rémy, Golec, Dominic, Martin, Emmanuel, Philippot, Quentin, Bohlen, Jonathan, Pelham, Simon, Arias, Andrés Augusto, Khan, Taushif, Ata, Manar, Al Ali, Fatima, Rozenberg, Flore, Kong, Xiao-Fei, Chrabieh, Maya, Laine, Candice, Lei, Wei-Te, Han, Ji Eun, Seeleuthner, Yoann, Kaul, Zenia, Jouanguy, Emmanuelle, Béziat, Vivien, Youssefian, Leila, Vahidnezhad, Hassan, Rao, V. Koneti, Neven, Bénédicte, Fieschi, Claire, Mansouri, Davood, Shahrooei, Mohammad, Pekcan, Sevgi, Alkan, Gulsum, Emiroğlu, Melike, Tokgöz, Hüseyin, Uitto, Jouni, Hauck, Fabian, Bustamante, Jacinta, Abel, Laurent, Keles, Sevgi, Parvaneh, Nima, Marr, Nico, Schwartzberg, Pamela, Latour, Sylvain, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie

المساهمون: Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm UMR 1163, Lymphocyte activation and susceptibility to EBV (Equpie Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010)

المصدر: ISSN: 0022-1007.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-03864121
https://hal.science/hal-03864121v1/document
https://hal.science/hal-03864121v1/file/JEM_20220484.pdf
https://doi.org/10.1084/jem.20220484