المؤلفون: Marco Ritelli, Harry C. Dietz, Danielle T. Avery, Bertrand Boisson, Soraya Boucherit, Lucie Grodecká, Stuart G. Tangye, Romain Lévy, Kathryn Payne, Tomáš Freiberger, Sophie Cypowyj, Juan Li, Valérie Cormier-Daire, Nicoletta Zoppi, Laurent Abel, Geetha Rao, Vivien Béziat, Andrea Guennoun, Benedetta Bigio, Maya Chrabieh, Salim Bougarn, Marina Colombi, Lei Shang, Emilie Corvilain, Yuval Itan, Anne Puel, Franck Rapaport, Nico Marr, Fransiska Malfait, Delfien Syx, Mélanie Migaud, Tanwir Habib, Sabri Boughorbel, Jean-Laurent Casanova, Cindy S. Ma

المصدر: Science Immunology. 4

مصطلحات موضوعية: Male, 0301 basic medicine, Connective Tissue Disorder, MAPK8, Immunology, Mucocutaneous zone, Connective tissue, Extracellular matrix, 03 medical and health sciences, 0302 clinical medicine, Transforming Growth Factor beta, medicine, Humans, Mitogen-Activated Protein Kinase 8, Chronic mucocutaneous candidiasis, Connective Tissue Diseases, Alleles, Cells, Cultured, business.industry, Candidiasis, Chronic Mucocutaneous, Interleukin-17, General Medicine, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Mutation, Cancer research, Female, Signal transduction, Haploinsufficiency, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d854a53b130f2af964f8eaeac6b479eTest
https://doi.org/10.1126/sciimmunol.aax7965Test

المؤلفون: Cindy S. Ma, Jean-Laurent Casanova, Monika Schmidt, Federico Mele, Gaspard Kerner, James P. Di Santo, Cecilia S. Lindestam Arlehamn, Avneet Heer, Lluis Quintana-Murci, Alessandro Sette, Bernhard Fleckenstein, Tomi Lazarov, Sandra Jovic, Natalie Wong, Stéphanie Boisson-Dupuis, Daniela Latorre, Julia K. Joseph, Bertrand Boisson, Rubén Martínez-Barricarte, Caner Aytekin, Danielle T. Avery, Aydan Ikinciogullari, Figen Dogu, Jean-François Emile, Etienne Patin, Federica Sallusto, Yoann Seeleuthner, Yuval Itan, Laurent Abel, Franck Rapaport, Alejandro Nieto-Patlán, Frederic Geissmann, Satoshi Okada, Fabienne Jabot-Hanin, Stuart G. Tangye, Esther van de Vosse, Geetha Rao, Elissa K. Deenick, Jacinta Bustamante, Mélanie Migaud, Caroline Deswarte, Mohammed Reza Bloursaz, Laura Surace, Benedetta Bigio, Davood Mansouri, Anne Puel, Payam Tabarsi, Xiao-Fei Kong, Gönül Tanır, Vanessa L. Bryant, Noé Ramírez-Alejo, Seyed Alireza Mahdaviani, Janet Markle

المساهمون: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University [New York], University of New South Wales [Sydney] (UNSW), Università della Svizzera italiana = University of Italian Switzerland (USI), Shahid Beheshti University of Medical Sciences [Tehran] (SBUMS), Sami Ulus Maternity and Children Training and Research Hospital, The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Melbourne, The Royal Melbourne Hospital, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (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), Immunité Innée - Innate Immunity, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Icahn School of Medicine at Mount Sinai [New York] (MSSM), Génomique évolutive, modélisation et santé (GEMS), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Génétique Evolutive Humaine - Human Evolutionary Genetics, Centre de Bioinformatique, Biostatistique et Biologie Intégrative (C3BI), Hiroshima University, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Ankara University School of Medicine [Turkey], Memorial Sloane Kettering Cancer Center [New York], Weill Medical College of Cornell University [New York], King‘s College London, La Jolla Institute for Immunology [La Jolla, CA, États-Unis], University of California [San Diego] (UC San Diego), University of California (UC), Hôpital Ambroise Paré [AP-HP], Leiden University Medical Center (LUMC), Universiteit Leiden, Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology [Zürich] (ETH Zürich), 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), The Laboratory of Human Genetics of Infectious Diseases was supported by grants from the National Institute of Allergy and Infectious Diseases (NIAID) grant numbers 5R37AI095983, R01AI089970, and K99AI127932, the National Center for Research Resources and the National Center for Advancing Sciences (NCATS) of the NIH grant number UL1TR001866, the Rockefeller University, the St. Giles Foundation, the European Research Council (ERC-2010-AdG-268777 and grant no. 323183), Institut National de la Santé et de la Recherche Médicale (INSERM), Paris Descartes University, the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID), and the French National Research Agency (ANR) under the 'Investissement d’avenir' program (grant ANR-10-IAHU-01), ANR-TBPATHGEN (grant ANR-14-CE14-0007-01), ANR-IFNPHOX (grant ANR13-ISV3-0001-01), and ANR-GENMSMD (grant ANR16-CE17-0005-01). This work was supported by NIAID award no. U19AI118626 (to A.S. and F.S.). J.G.M. was funded by the Canadian Institutes of Health Research, the NIH Translational Science Award (CTSA) program (no. UL1 TR000043), the Swiss National Science Foundation (grant no. IZKOZ3_173586), the Charles H. Revson Foundation, and the NIAID (1K99AI127932-01A1). R.M.-B. was supported by the European Molecular Biology Organization (EMBO). N.R.-A. was supported by the National Council of Science and Technology of Mexico (CONACYT, 264011) and the Stony Wold-Herbert Fund Fellowship Grant. Y.I. was supported by the AXA Research Fund. S.G.T., E.K.D., and C.S.M. are supported by research grants and fellowships from the National Health and Medical Research Council of Australia (S.G.T., C.S.M., and E.K.D.) and the Office for Health and Medical Research of the State Government of NSW Australia (C.S.M.). A.S. is supported by NIH research grant HHSN272200900044C. J.B. is supported by SRC2017. The Institute for Research in Biomedicine and F.S. are supported by the Helmut Horten Foundation. S.O. was supported by the Aid for Scientific Research Grant from the Japanese Society for the Promotion of Science (16H05355) and the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development., ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-14-CE14-0007,TBPATHGEN,Dissection de la pathogenèse de la tuberculose par l'identification de défauts monogéniques de l'immunité dans les formes pédiatriques sévères de la maladie(2014), ANR-13-ISV3-0001,IFNGPHOX,L'immunité anti-tuberculeuse dépendante de l'IFN-gamma chez l'homme opère via la NADPH oxydase phagocytaire(2013), ANR-16-CE17-0005,GENMSMD,Dissection génétique de la Susceptibilité Mendélienne aux infections mycobactériennes chez l'homme(2016), European Project: 268777,EC:FP7:ERC,ERC-2010-AdG_20100317,GENTB(2011), European Project: 323183,EC:FP7:ERC,ERC-2012-ADG_20120314,PREDICT(2013), Shahid Beheshti University, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Génomique évolutive, modélisation et santé (CNRS-UMR2000), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), University of California, The Rockefeller University, St Giles laboratory of Human Genetics and Infectious Diseases, rockefeller university, Garvan Institute of Medical Research [Darlinghurst, Australia], Dis Training & Res Ctr, Shahid Beheshti University of Medical Sciences, Ecole d'Ingénieurs de Purpan (INPT - EI Purpan), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Immunité Innée, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Centre de Bioinformatique (CBIO), MINES ParisTech - École nationale supérieure des mines de Paris-PSL Research University (PSL), Institut de Génomique d'Evry (IG), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Sami Ulus Children Hlth & Dis Training & Res Ctr, Ankara, Génétique Humaine des Maladies Infectieuses (Inserm U980), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Service d'anatomie pathologique [CHU Necker], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Univ Erlangen Nurnberg, La Jolla Institute for Allergy and Immunology, Laboratoire épidémiologie et oncogénèse des tumeurs digestives, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Garvan Institute for Medical Research, Institute for Research in Biomedicine

المصدر: Science Immunology
Science Immunology, 2018, 3 (30), pp.eaau6759. ⟨10.1126/sciimmunol.aau6759⟩
Science Immunology, American Association for the Advancement of Science, 2018, 3 (30), pp.eaau6759. ⟨10.1126/sciimmunol.aau6759⟩

مصطلحات موضوعية: MESH: Interleukin-12, 0301 basic medicine, MESH: Interferon-gamma, MESH: Pedigree, medicine.medical_treatment, Immunology, Population, Mycobacterium Infections, Nontuberculous, Biology, Interleukin-23, Article, Mycobacterium, Interferon-gamma, 03 medical and health sciences, 0302 clinical medicine, Immune system, Immunity, MESH: Mycobacterium, medicine, Humans, Interferon gamma, education, Interleukin 12 receptor, beta 1 subunit, MESH: Interleukin-23, education.field_of_study, MESH: Humans, General Medicine, MESH: Mycobacterium Infections, Nontuberculous, Natural killer T cell, Interleukin-12, Immunity, Innate, Pedigree, 3. Good health, 030104 developmental biology, Cytokine, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Interleukin 12, [SDV.IMM]Life Sciences [q-bio]/Immunology, MESH: Immunity, Innate, 030215 immunology, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12b2d54fb97a024a1be58ace641d7fedTest
https://doi.org/10.1126/sciimmunol.aau6759Test