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

Autor: Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. tom.le-voyer@institutimagine.org.; Paris Cité University, Imagine Institute, Paris, France. tom.le-voyer@institutimagine.org., Parent AV; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA., Liu X; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA., Cederholm A; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden., Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Study Center for Immunodeficiencies, Necker Hospital for Sick Children, Paris, France., Nguyen T; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia., Perez Lorenzo M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Rackaityte E; Department of Biochemistry and Biophysics, University of California San Francisco, San Francisco, CA, USA., Rinchai D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Bizien L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Hancioglu G; Division of Pediatric Allergy and Immunology, Ondokuz Mayıs University Faculty of Medicine, Samsun, Turkey., Ghillani-Dalbin P; Department of Immunology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Charuel JL; Department of Immunology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Gueye MS; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Maglorius Renkilaraj MRL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Soudée C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Migaud M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Rozenberg F; Virology, Cochin-Saint-Vincent de Paul Hospital, University of Paris, Paris, France., Momenilandi M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Riller Q; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris Cité University, Imagine Institute, INSERM UMR1163, Paris, France., Imberti L; Section of Microbiology, University of Brescia, Brescia, Italy., Delmonte OM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Müller G; Institute for Immunodeficiency, Center for Chronic Immunodeficiencies, Medical Center-University Hospital Freiburg, and Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Keller B; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Orrego J; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Franco Gallego WA; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Rubin T; Division of Pediatric Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada., Emiroglu M; Department of Pediatric Infectious Diseases, Faculty of Medicine, Selcuk University, Konya, Turkey., Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran., Eriksson D; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden.; Department of Immunology, Genetics and Pathology, Section of Clinical Genetics, Uppsala University and University Hospital, Uppsala, Sweden.; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden., Aranda-Guillen M; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden., Berrios DI; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA., Vong L; Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada., Katelaris CH; Immunology and Allergy, University of Western Sydney and Campbelltown Hospital, Campbelltown, New South Wales, Australia., Mustillo P; Division of Allergy and Immunology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH, USA., Raedler J; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Bohlen J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Bengi Celik J; Department of Anesthesiology and Reanimation, Selcuk University Faculty of Medicine, Konya, Turkey., Astudillo C; Hospital de Niños Roberto del Río, Santiago, Chile.; Department of Pediatrics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Winter S; Laboratory of Lymphocyte Activation and Susceptibility to EBV, Paris Cité University, Imagine Institute, Inserm UMR1163, Paris, France., McLean C; Department of Anatomical Pathology, The Alfred Hospital, Prahran, Victoria, Australia., Guffroy A; Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, Strasbourg University Hospital, Strasbourg, France., DeRisi JL; Department of Biochemistry and Biophysics, University of California San Francisco, San Francisco, CA, USA.; Chan Zuckerberg Biohub, San Francisco, CA, USA., Yu D; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA., Miller C; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA., Feng Y; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Guichard A; Joint Unit Hospices Civils de Lyon-BioMérieux, Lyon, France., Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Study Center for Immunodeficiencies, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Pan-Hammarström Q; Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.; Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Zhang Y; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA., Rosen LB; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Holland SM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Bosticardo M; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Kenney H; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Castagnoli R; Pediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy.; Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Slade CA; Immunology Division, Walter and Eliza Hall Institute, Melbourne, Victoria, Australia.; Dept Medical Biology, University of Melbourne, Victoria, Parkville, Australia.; Dept Clinical Immunology and Allergy, The Royal Melbourne Hospital, Parkville, Australia., Boztuğ K; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Anna Children's Cancer Research Institute, Vienna, Austria.; Anna Children's Hospital, Vienna, Austria., Mahlaoui N; French National Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France., Latour S; Laboratory of Lymphocyte Activation and Susceptibility to EBV, Paris Cité University, Imagine Institute, Inserm UMR1163, Paris, France., Abraham RS; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Lougaris V; Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, University of Brescia ASST-Spedali Civili di Brescia, Brescia, Italy., Hauck F; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Sediva A; Department of Immunology, Second Faculty of Medicine Charles University and Motol University Hospital, Prague, Czech Republic., Atschekzei F; Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany., Sogkas G; Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany., Poli MC; Hospital de Niños Roberto del Río, Santiago, Chile.; Department of Pediatrics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Slatter MA; Children's Haemopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle-upon-Tyne Hospital NHS Foundation Trust, Newcastle upon Tyne, UK., Palterer B; Allergy and Clinical Immunology, Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy., Keller MD; Division of Allergy and Immunology, Children's National Medical Center, Washington, DC, USA., Pinzon-Charry A; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Sullivan A; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Droney L; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Suan D; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia., Wong M; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.; Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia., Kane A; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; South Western Sydney Clinical School, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Department of Immunology, Allergy and HIV, St Vincent's Hospital, Sydney, New South Wales, Australia., Hu H; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; South Western Sydney Clinical School, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Department of Immunology, Allergy and HIV, St Vincent's Hospital, Sydney, New South Wales, Australia., Ma C; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia., Grombiříková H; Centre for Cardiovascular Surgery and Transplantation, Medical Faculty, Masaryk University, Brno, Czech Republic., Ciznar P; Department of Paediatrics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovakia., Dalal I; Pediatric Department, E. Wolfson Medical Center, Tel Aviv University, Tel Aviv, Israel., Aladjidi N; Pediatric Oncology Hematology Unit, University Hospital, Plurithématique CIC (CICP), Centre d'Investigation Clinique (CIC) 1401, Bordeaux, France., Hie M; Internal Medicine Department, Pitié-Salpêtrière Hospital, Paris, France., Lazaro E; Department of Internal Medicine & Infectious Diseases, Bordeaux Hospital University, Bordeaux, France., Franco J; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Keles S; Division of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey., Malphettes M; Clinical Immunology Department, Saint Louis Hospital, Paris, France., Pasquet M; Department of Pediatric Hematology, Toulouse University Hospital, Toulouse, France., Maccari ME; Institute for Immunodeficiency, Center for Chronic Immunodeficiencies, Medical Center-University Hospital Freiburg, and Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany.; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Meinhardt A; Department of Pediatric Hematology, Oncology and Immunodeficiencies, University Children's Hospital Gießen, Giessen, Germany., Ikinciogullari A; Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey., Shahrooei M; Dr. Shahrooei Lab, Tehran, Iran.; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium., Celmeli F; Department of Allergy and Immunology, University of Medical Science, Antalya Education and Research Hospital, Antalya, Turkey., Frosk P; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Goodnow CC; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia., Gray PE; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Immunology and Infectious Diseases, Sydney Children's Hospital Randwick, Western Sydney University, Campbelltown, New South Wales, Australia., Belot A; CNRS UMR 5308, ENS, UCBL, Lyon, France.; National Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), Lyon, France.; Immunopathology Federation LIFE, Hospices Civils de Lyon, Lyon, France., Kuehn HS; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Miyara M; Department of Immunology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.; Centre d'Immunologie et des Maladies Infectieuses (CIMI), Sorbonne Université, INSERM U1135, Paris, France., Licciardi F; Department of Pediatrics and Public Health, Università degli Studi di Torino, Turin, Italy., Servettaz A; Internal Medicine, Clinical Immunology and Infectious Diseases Department, University Hospital Center, Reims, France.; IRMAIC EA 7509, URCA, Reims, France., Barlogis V; CHU Marseille, Hôpital La Timone, Service d'Hémato-oncologie Pédiatrique, Assistance Publique-Hôpitaux de Marseille, Marseille, France., Le Guenno G; Centre Hospitalier Universitaire Estaing, Clermont-Ferrand, France., Herrmann VM; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kuijpers T; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Ducoux G; Department of Internal Medicine, Edouard Herriot Hospital, Lyon, France., Sarrot-Reynauld F; Department of Internal Medicine, Hôpital Michallon, CHU de Grenoble Alpes, Grenoble, France., Schuetz C; Department of Pediatrics, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Cunningham-Rundles C; Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA., Rieux-Laucat F; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris Cité University, Imagine Institute, INSERM UMR1163, Paris, France., Tangye SG; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia., Sobacchi C; IRCCS Humanitas Research Hospital, Rozzano, Italy.; CNR-IRGB, Milan Unit, Milan, Italy., Doffinger R; Department of Clinical Biochemistry and Immunology, Addenbrooke's Hospital, Cambridge, UK., Warnatz K; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Grimbacher B; Institute for Immunodeficiency, Center for Chronic Immunodeficiencies, Medical Center-University Hospital Freiburg, and Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Fieschi C; Clinical Immunology Department, Saint Louis Hospital, Paris, France.; Paris Cité University, Paris, France., Berteloot L; Pediatric Radiology Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France., Bryant VL; Immunology Division, Walter and Eliza Hall Institute, Melbourne, Victoria, Australia.; Dept Medical Biology, University of Melbourne, Victoria, Parkville, Australia.; Dept Clinical Immunology and Allergy, The Royal Melbourne Hospital, Parkville, Australia., Trouillet Assant S; Joint Unit Hospices Civils de Lyon-BioMérieux, Lyon, France.; CIRI (Centre International de Recherche en Infectiologie), Université de Lyon, Université Claude Bernard Lyon 1, INSERM U1111, CNRS, UMR5308, ENS Lyon, Université Jean Monnet de Saint-Etienne, Lyon, France., Su H; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA., Neven B; Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Zhang Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Kampe O; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden., Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France., Roifman CM; Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada., Landegren N; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Anderson MS; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA.; Department of Medicine, University of California, San Francisco, San Francisco, CA, USA., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. casanova@rockefeller.edu.; Paris Cité University, Imagine Institute, Paris, France. casanova@rockefeller.edu.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu.; Howard Hughes Medical Institute, New York, NY, USA. casanova@rockefeller.edu.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France. casanova@rockefeller.edu., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. anne.puel@inserm.fr.; Paris Cité University, Imagine Institute, Paris, France. anne.puel@inserm.fr.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. anne.puel@inserm.fr.

Publikováno v: Nature [Nature] 2023 Nov; Vol. 623 (7988), pp. 803-813. Date of Electronic Publication: 2023 Nov 08.

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.

Autor: Asano T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu bebo283@rockefeller.edu.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Onodi F; Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR7212, University of Paris, Research Institute of Saint-Louis, Saint-Louis Hospital, Paris, France., Matuozzo D; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Moncada-Velez M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Maglorius Renkilaraj MRL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Meertens L; Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR7212, University of Paris, Research Institute of Saint-Louis, Saint-Louis Hospital, Paris, France., Bolze A; Helix, San Mateo, CA, USA., Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Korniotis S; University of Paris, INSERM U976, F-75006 Paris, France., Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Talouarn E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Bigio B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Bilguvar K; Yale Center for Genome Analysis and Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Zhang Y; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA., Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Pelham SJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Soler-Palacín P; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain., Colobran R; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Diagnostic Immunology Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Immunology Division, Genetics Department, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain., Martin-Nalda A; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain., Rivière JG; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain., Tandjaoui-Lambiotte Y; AP-HP, Avicenne Hospital, Intensive Care Unit, Bobigny, France.; INSERM U1272 Hypoxia & Lung, Bobigny, France., Chaïbi K; Anesthesiology and Critical Care Medicine Department, APHP, Avicenne Hospital, Bobigny, France.; Common and Rare Kidney Diseases, Sorbonne University, INSERM UMR-S 1155, Paris, France., Shahrooei M; Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Darazam IA; Infectious Diseases and Tropical Medicine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Department of Infectious Diseases and Tropical Medicine, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Olyaei NA; Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Mansouri D; Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; The Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Masih Daneshvari Hospital, Shahid Beheshti, University of Medical Sciences, Tehran, Iran.; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti, Iran., Hatipoğlu N; Pediatric Infectious Diseases Unit, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Palabiyik F; Pediatric Infectious Diseases Unit, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Ozcelik T; Department of Molecular Biology and Genetics, University of Bilkent, Bilkent-Ankara, Turkey., Novelli G; Department of Biomedicine and Prevention, University of Rome 'Tor Vergata,' Rome, and Neuromed Institute, IRCCS, Pozzilli (IS), Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Casari G; Vita-Salute San Raffaele University, Milan, Italy.; Clinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Aiuti A; Vita-Salute San Raffaele University, Milan, Italy.; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) and Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy., Carrera P; Clinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Bondesan S; Clinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Barzaghi F; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) and Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy., Rovere-Querini P; Vita-Salute San Raffaele University, Milan, Italy.; Division of Immunology, Transplantation and Infectious Diseases, IRCCS San Raffaele Scientific Institute, Milan, Italy., Tresoldi C; Molecular Hematology Unit, IRCCS Ospedale San Raffaele, Milan, Italy., Franco JL; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Rojas J; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Reyes LF; Universidad de La Sabana, Chia, Colombia., Bustos IG; Universidad de La Sabana, Chia, Colombia., Arias AA; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.; School of Microbiology, University of Antioquia UdeA, Medellín, Colombia., Morelle G; Department of General Pediatrics, Hôpital Bicêtre, AP-HP, University of Paris Saclay, Le Kremlin-Bicêtre, France., Christèle K; Department of General Pediatrics, Hôpital Bicêtre, AP-HP, University of Paris Saclay, Le Kremlin-Bicêtre, France., Troya J; Department of Internal Medicine, Infanta Leonor University Hospital, Madrid, Spain., Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain., Gut M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Baldiri Reixac 4, 08028, Barcelona, Spain., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain., Allende LM; Immunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (I+12), Madrid, Spain.; Complutense University, Madrid, Spain., Rodriguez-Gallego C; Department of Immunology, University Hospital of Gran Canaria Dr. Negrín, Canarian Health System, Las Palmas de Gran Canaria, Spain.; Department of Clinical Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain., Flores C; Genomics Division, Institute of Technology and Renewable Energies (ITER), Santa Cruz de Tenerife, Spain.; CIBER de Enfermedades Respiratorias, Health Institute of Carlos III, Madrid, Spain.; Research Unit, University Hospital of N.S. de Candelaria, Santa Cruz de Tenerife, Spain.; Institute of Biomedical technologies (ITB), University of La Laguna, San Cristóbal de La Laguna, Spain., Cabrera-Marante O; Immunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (I+12), Madrid, Spain., Pleguezuelo DE; Immunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (I+12), Madrid, Spain., de Diego RP; Institute of Biomedical Research of IdiPAZ, University Hospital 'La Paz', Madrid, Spain., Keles S; Necmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey., Aytekin G; Konya City Hospital, Division of Allergy and Immunology, Konya, Turkey., Akcan OM; Necmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey., Bryceson YT; Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden., Bergman P; Department of Laboratory Medicine, Division of Clinical Microbiology, Karolinska Institute, Stockholm, Sweden.; The Immunodeficiency Unit, Infectious Disease Clinic, Karolinska University Hospital, Stockholm, Sweden., Brodin P; Science for Life Laboratory, Department of Women's and Children's Health, Karolinska Institute, Solna, Sweden., Smole D; Central Hospital-Anesthesia and Intensive Care Unit, Karlstad, Sweden., Smith CIE; Department of Laboratory Medicine, Division of Biomolecular and Cellular Medicine, Karolinska Institute, Stockholm, Sweden.; The Immunodeficiency Unit, Infectious Disease Clinic, Karolinska University Hospital, Stockholm, Sweden., Norlin AC; The Immunodeficiency Unit, Infectious Disease Clinic, Karolinska University Hospital, Stockholm, Sweden., Campbell TM; Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden., Covill LE; Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden., Hammarström L; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., Pan-Hammarström Q; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., Abolhassani H; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Mane S; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Marr N; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar., Ata M; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar., Al Ali F; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar., Khan T; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar., Spaan AN; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht, Netherlands., Dalgard CL; Department of Anatomy, Physiology & Genetics Uniformed Services University of the Health Sciences, Bethesda, MD, USA.; The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Bonfanti P; Department of Infectious Diseases, San Gerardo Hospital-University of Milano-Bicocca, Monza, Italy., Biondi A; Pediatric Department and Centro Tettamanti-European Reference Network PaedCan, EuroBloodNet, MetabERN-University of Milano-Bicocca-Fondazione MBBM- Ospedale San Gerardo, Monza, Italy., Tubiana S; Centre d'Investigation Clinique, INSERM CIC 1425, Paris, France.; Hôpital Bichat Claude Bernard, APHP, Paris, France., Burdet C; Centre d'Investigation Clinique, INSERM CIC 1425, Paris, France.; Université de Paris, IAME, INSERM UMR 1137, Paris, France., Nussbaum R; Invitae, San Francisco, CA, USA., Kahn-Kirby A; Invitae, San Francisco, CA, USA., Snow AL; Department of Pharmacology & Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Bustamante J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris, France, EU., Puel A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Boisson-Dupuis S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Zhang SY; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Béziat V; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Lifton RP; Yale Center for Genome Analysis and Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Laboratory of Genetics and Genomics, The Rockefeller University, New York, NY, USA., Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA., Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Su HC; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Jouanguy E; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Amara A; Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR7212, University of Paris, Research Institute of Saint-Louis, Saint-Louis Hospital, Paris, France., Soumelis V; University of Paris, INSERM U976, F-75006 Paris, France.; APHP, Hôpital Saint-Louis, Department of Immunology-Histocompatibility, 75010 Paris, France., Cobat A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Zhang Q; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu bebo283@rockefeller.edu.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Howard Hughes Medical Institute, New York, NY, USA.

Publikováno v: Science immunology [Sci Immunol] 2021 Aug 19; Vol. 6 (62).

The intellectual disability protein PAK3 regulates oligodendrocyte precursor cell differentiation.

Autor: Maglorius Renkilaraj MRL; Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de Biologie Paris Seine, Neuroscience Paris Seine, F-75005 Paris, France., Baudouin L; Sorbonne Universités, UPMC Univ Paris 06, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, F-75013 Paris, France., Wells CM; Division of Cancer Studies, King's College London, UK., Doulazmi M; Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de Biologie Paris Seine, Adaptation Biologique et vieillissement, F-75005 Paris, France., Wehrlé R; Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de Biologie Paris Seine, Neuroscience Paris Seine, F-75005 Paris, France., Cannaya V; Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de Biologie Paris Seine, Neuroscience Paris Seine, F-75005 Paris, France., Bachelin C; Sorbonne Universités, UPMC Univ Paris 06, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, F-75013 Paris, France., Barnier JV; Institute of Neuroscience Paris-Saclay, CNRS-Université Paris-Sud, UMR9197, F-91405 Orsay, France., Jia Z; Neurosciences & Mental Health, The Hospital for Sick Children, and Department of Physiology, Faculty of Medicine, University of Toronto, 555 University, Toronto, Ontario M5G 1X8, Canada., Nait Oumesmar B; Sorbonne Universités, UPMC Univ Paris 06, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, F-75013 Paris, France., Dusart I; Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de Biologie Paris Seine, Neuroscience Paris Seine, F-75005 Paris, France., Bouslama-Oueghlani L; Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de Biologie Paris Seine, Neuroscience Paris Seine, F-75005 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, F-75013 Paris, France. Electronic address: lamia.bouslama@upmc.fr.

Publikováno v: Neurobiology of disease [Neurobiol Dis] 2017 Feb; Vol. 98, pp. 137-148. Date of Electronic Publication: 2016 Dec 06.