يعرض 1 - 20 نتائج من 495 نتيجة بحث عن '"Parvaneh, Nima"', وقت الاستعلام: 0.61s تنقيح النتائج
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    Academic Journal
  2. 2
    Academic Journal
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    Academic Journal

    المؤلفون: Sharma, Mehul, Leung, Daniel, Momenilandi, Mana, Jones, Lauren CW, Pacillo, Lucia, James, Alyssa E, Murrell, Jill R, Delafontaine, Selket, Maimaris, Jesmeen, Vaseghi-Shanjani, Maryam, Del Bel, Kate L, Lu, Henry Y, Chua, Gilbert T, Di Cesare, Silvia, Fornes, Oriol, Liu, Zhongyi, Di Matteo, Gigliola, Fu, Maggie P, Amodio, Donato, San Tam, Issan Yee, Chan, Gavin Shueng Wai, Sharma, Ashish A, Dalmann, Joshua, van der Lee, Robin, Blanchard-Rohner, Géraldine, Lin, Susan, Philippot, Quentin, Richmond, Phillip A, Lee, Jessica J, Matthews, Allison, Seear, Michael, Turvey, Alexandra K, Philips, Rachael L, Brown-Whitehorn, Terri F, Gray, Christopher J, Izumi, Kosuke, Treat, James R, Wood, Kathleen H, Lack, Justin, Khleborodova, Asya, Niemela, Julie E, Yang, Xingtian, Liang, Rui, Kui, Lin, Wong, Christina Sze Man, Poon, Grace Wing Kit, Hoischen, Alexander, van der Made, Caspar I, Yang, Jing, Chan, Koon Wing, Da Rosa Duque, Jaime Sou, Lee, Pamela Pui Wah, Ho, Marco Hok Kung, Chung, Brian Hon Yin, Le, Huong Thi Minh, Yang, Wanling, Rohani, Pejman, Fouladvand, Ali, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Miryounesi, Mohammad, Puel, Anne, Shahrooei, Mohammad, Finocchi, Andrea, Rossi, Paolo, Rivalta, Beatrice, Cifaldi, Cristina, Novelli, Antonio, Passarelli, Chiara, Arasi, Stefania, Bullens, Dominique, Sauer, Kate, Claeys, Tania, Biggs, Catherine M, Morris, Emma C, Rosenzweig, Sergio D, O’Shea, John J, Wasserman, Wyeth W, Bedford, H Melanie, van Karnebeek, Clara DM, Palma, Paolo, Burns, Siobhan O, Meyts, Isabelle, Casanova, Jean-Laurent, Lyons, Jonathan J, Parvaneh, Nima, Van Nguyen, Anh Thi, Cancrini, Caterina, Heimall, Jennifer, Ahmed, Hanan, McKinnon, Margaret L, Lau, Yu Lung, Béziat, Vivien, Turvey, Stuart E

    المصدر: Journal of Experimental Medicine. 220(5)

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    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

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    Academic Journal

    المؤلفون: Materna, Marie, Delmonte, Ottavia, M, Bosticardo, Marita, Momenilandi, Mana, Conrey, Peyton, E, Charmeteau-de Muylder, Bénédicte, Bravetti, Clotilde, Bellworthy, Rebecca, Cederholm, Axel, Staels, Frederik, Ganoza, Christian, A, Darko, Samuel, Sayed, Samir, Le Floc’h, Corentin, Ogishi, Masato, Rinchai, Darawan, Guenoun, Andrea, Bolze, Alexandre, Khan, Taushif, Gervais, Adrian, Krüger, Renate, Völler, Mirjam, Palterer, Boaz, Sadeghi-Shabestari, Mahnaz, Langlois de Septenville, Anne, Schramm, Chaim, A, Shah, Sanjana, Tello-Cajiao, John, J, Pala, Francesca, Amini, Kayla, Campos, Jose, S, Lima, Noemia Santana, Eriksson, Daniel, Lévy, Romain, Seeleuthner, Yoann, Jyonouchi, Soma, Ata, Manar, Al Ali, Fatima, Deswarte, Caroline, Pereira, Anaïs, Mégret, Jérôme, Le Voyer, Tom, Bastard, Paul, Berteloot, Laureline, Dussiot, Michaël, Vladikine, Natasha, Cardenas, Paula, P, Jouanguy, Emmanuelle, Alqahtani, Mashael, Hasan, Amal, Thanaraj, Thangavel Alphonse, Rosain, Jérémie, Al Qureshah, Fahd, Sabato, Vito, Alyanakian, Marie Alexandra, Leruez-Ville, Marianne, Rozenberg, Flore, Haddad, Elie, Regueiro, Jose, R, Toribio, Maria, L, Kelsen, Judith, R, Salehi, Mansoor, Nasiri, Shahram, Torabizadeh, Mehdi, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Vatandoost, Nasimeh, Moravej, Hossein, Akrami, Seyed Mohammad, Mazloomrezaei, Mohsen, Cobat, Aurélie, Meyts, Isabelle, Toyofuku, Etsushi, Nishimura, Madoka, Moriya, Kunihiko, Mizukami, Tomoyuki, Imai, Kohsuke, Abel, Laurent, Malissen, Bernard, Al-Mulla, Fahd, Alkuraya, Fowzan Sami, Parvaneh, Nima, von Bernuth, Horst, Beetz, Christian, Davi, Frédéric, Douek, Daniel, C, Cheynier, Rémi, Langlais, David, Landegren, Nils, Marr, Nico, Morio, Tomohiro, Shahrooei, Mohammad, Schrijvers, Rik, Henrickson, Sarah, E, Luche, Hervé, Notarangelo, Luigi, D, Casanova, Jean-Laurent, Béziat, Vivien

    المساهمون: National Institutes of Health Bethesda, MD, USA (NIH), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Uppsala Universitet Uppsala, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), Rockefeller University New York, Helix San Mateo, CA, Sidra Medicine Doha, Qatar, Hamad Bin Khalifa University Doha, Qatar (HBKU), 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), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), ANR-21-CE15-0034,CARMIL2,Bases moléculaires, cellulaires et immunologiques de la déficience combinée résultant de mutations dans CARMIL2(2021), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), European Project: 101057100,HORIZON-HLTH-2021-DISEASE-04 ,UNDINE(2022)

    المصدر: ISSN: 0036-8075.

    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

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    Academic Journal

    وصف الملف: application/pdf

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

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    Academic Journal

    المساهمون: Immuno-Rhumatologie Moléculaire (IRM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), GENOMAX plateforme, Fédération Hospitalo-Universitaire OMICARE, Centre de Recherche d’Immunologie et d’Hématologie Strasbourg, Centre de Recherche en Biomédecine de Strasbourg (CRBS), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Laboratoire d'excellence (Labex) Transplantex (Nouveaux loci d’histocompatibilité et biomarqueurs en transplantation humaine, de la découverte à l’application clinique), Nouvel Hôpital Civil de Strasbourg, Les Hôpitaux Universitaires de Strasbourg (HUS), Memorial Sloan Kettering Cancer Center New York, NY, USA (MSK2C), Weill Cornell Medicine Cornell University, Cornell University New York, Nationwide Children's Hospital, Guangzhou International Bio Island Guangdong, China (GIBI), Tongji University School of Medicine Shanghai, China, Albert-Ludwigs-Universität Freiburg = University of Freiburg, Immunologie - Immunopathologie - Immunothérapie CHU Pitié Salpêtrière (I3), CHU Charles Foix AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Centre d'investigation clinique Biothérapie CHU Pitié-Salpêtrière (CIC-BTi), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Louisville School of Medicine Louisville, GeneDx Gaithersburg, MD, USA, Blueprint Genetics, Schneider Children’s Medical Center of Israel Petah Tikva, CENTOGENE AG, Mayo Clinic Rochester, Bar-Ilan University Israël, Institut Pluridisciplinaire Hubert Curien (IPHC), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Spectrométrie de Masse BioOrganique Strasbourg (LSMBO), Département Sciences Analytiques et Interactions Ioniques et Biomoléculaires (DSA-IPHC), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Institut Pluridisciplinaire Hubert Curien (IPHC), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Fédération de Recherche nationale ProFI (FR ProFI), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Plate-forme protéomique Strasbourg Grand Est, Shaare Zedek Medical Center Jerusalem, Israel, The Hebrew University of Jerusalem (HUJ), Iran University of Medical Sciences Tehran, Iran (IUMS), National Institute of Allergy and Infectious Diseases Bethesda (NIAID-NIH), National Institutes of Health Bethesda, MD, USA (NIH), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Hôtel-Dieu de Nantes, Tel Aviv University (TAU), Jeffrey Modell Foundation, ANR-10-INBS-0008,ProFI,Infrastructure Française de Protéomique(2010), ANR-11-LABX-0070,TRANSPLANTEX,Nouveaux loci d'histocompatibilité/biomarqueurs en transplantation humaine: de la découverte à l'app(2011), 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)

    المصدر: ISSN: 2375-2548 ; Science Advances ; https://hal.science/hal-04752335 ; Science Advances , 2024, 10 (37), pp.eado5545. ⟨10.1126/sciadv.ado5545⟩ ; https://www.science.org/doi/10.1126/sciadv.ado5545.

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

    Relation: info:eu-repo/semantics/altIdentifier/pmid/39270020; PUBMED: 39270020; PUBMEDCENTRAL: PMC11397499

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    Academic Journal

    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.

    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

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    Academic Journal

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

    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

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    المؤلفون: Materna, Marie, Delmonte, Ottavia M., Bosticardo, Marita, Momenilandi, Mana, Conrey, Peyton E., Charmeteau-De Muylder, Benedicte, Bravetti, Clotilde, Bellworthy, Rebecca, Cederholm, Axel, Staels, Frederik, Ganoza, Christian A., Darko, Samuel, Sayed, Samir, Le Floc'h, Corentin, Ogishi, Masato, Rinchai, Darawan, Guenoun, Andrea, Bolze, Alexandre, Khan, Taushif, Gervais, Adrian, Krueger, Renate, Voeller, Mirjam, Palterer, Boaz, Sadeghi-Shabestari, Mahnaz, de Septenville, Anne Langlois, Schramm, Chaim A., Shah, Sanjana, Tello-Cajiao, John J., Pala, Francesca, Amini, Kayla, Campos, Jose S., Lima, Noemia Santana, Eriksson, Daniel, Levy, Romain, Seeleuthner, Yoann, Jyonouchi, Soma, Ata, Manar, Al Ali, Fatima, Deswarte, Caroline, Pereira, Anais, Megret, Jerome, Le Voyer, Tom, Bastard, Paul, Berteloot, Laureline, Dussiot, Michael, Vladikine, Natasha, Cardenas, Paula P., Jouanguy, Emmanuelle, Alqahtani, Mashael, Hasan, Amal, Thanaraj, Thangavel Alphonse, Rosain, Jeremie, Al Qureshah, Fahd, Sabato, Vito, Alyanakian, Marie Alexandra, Leruez-Ville, Marianne, Rozenberg, Flore, Haddad, Elie, Regueiro, Jose R., Toribio, Maria L., Kelsen, Judith R., Salehi, Mansoor, Nasiri, Shahram, Torabizadeh, Mehdi, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Vatandoost, Nasimeh, Moravej, Hossein, Akrami, Seyed Mohammad, Mazloomrezaei, Mohsen, Cobat, Aurelie, Meyts, Isabelle, Toyofuku, Etsushi, Nishimura, Madoka, Moriya, Kunihiko, Mizukami, Tomoyuki, Imai, Kohsuke, Abel, Laurent, Malissen, Bernard, Al-Mulla, Fahd, Alkuraya, Fowzan Sami, Parvaneh, Nima, von Bernuth, Horst, Beetz, Christian, Davi, Frederic, Douek, Daniel C., Cheynier, Remi, Langlais, David, Landegren, Nils, Marr, Nico, Morio, Tomohiro, Shahrooei, Mohammad, Schrijvers, Rik, Henrickson, Sarah E., Luche, Herve, Notarangelo, Luigi D., Casanova, Jean-Laurent, Beziat, Vivien

    المصدر: 0036-8075 ; Science

    مصطلحات موضوعية: Human medicine

    Relation: info:eu-repo/semantics/altIdentifier/isi/001190818400035

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    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]

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