Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Autor: Matuozzo, D, Talouarn, E, Marchal, A, Zhang, P, Manry, J, Seeleuthner, Y, Zhang, Y, Bolze, A, Chaldebas, M, Milisavljevic, B, Gervais, A, Bastard, P, Asano, T, Bizien, L, Barzaghi, F, Abolhassani, H, Abou Tayoun, A, Aiuti, A, Alavi Darazam, I, Allende, Lm, Alonso-Arias, R, Arias, Aa, Aytekin, G, Bergman, P, Bondesan, S, Bryceson, Yt, Bustos, Ig, Cabrera-Marante, O, Carcel, S, Carrera, P, Casari, G, Chaïbi, K, Colobran, R, Condino-Neto, A, Covill, Le, Delmonte, Om, El Zein, L, Flores, C, Gregersen, Pk, Gut, M, Haerynck, F, Halwani, R, Hancerli, S, Hammarström, L, Hatipoğlu, N, Karbuz, A, Keles, S, Kyheng, C, Leon-Lopez, R, Franco, Jl, Mansouri, D, Martinez-Picado, J, Metin Akcan, O, Migeotte, I, Morange, P, Morelle, G, Martin-Nalda, A, Novelli, G, Novelli, A, Ozcelik, T, Palabiyik, F, Pan-Hammarström, Q, de Diego, Rp, Planas-Serra, L, Pleguezuelo, De, Prando, C, Pujol, A, Reyes, Lf, Rivière, Jg, Rodriguez-Gallego, C, Rojas, J, Rovere-Querini, P, Schlüter, A, Shahrooei, M, Sobh, A, Soler-Palacin, P, Tandjaoui-Lambiotte, Y, Tipu, I, Tresoldi, C, Troya, J, van de Beek, D, Zatz, M, Zawadzki, P, Al-Muhsen, Sz, Alosaimi, Mf, Alsohime, Fm, Baris-Feldman, H, Butte, Mj, Constantinescu, Sn, Cooper, Ma, Dalgard, Cl, Fellay, J, Heath, Jr, Lau, Y, Lifton, Rp, Maniatis, T, Mogensen, Th, von Bernuth, H, Lermine, A, Vidaud, M, Boland, A, Deleuze, J, Nussbaum, R, Kahn-Kirby, A, Mentre, F, Tubiana, S, Gorochov, G, Tubach, F, Hausfater, P, Meyts, I, Zhang, S, Puel, A, Notarangelo, Ld, Boisson-Dupuis, S, Helen C, S, Boisson, B, Jouanguy, E, Casanova, J, Zhang, Q, Abel, L, Cobat, A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3667::ba3a452488014aee95b3aabc0ddbbf61
https://hdl.handle.net/2108/321965

Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the CIITA gene.

Autor: Alosaimi MF; Immunology Research Laboratory, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Allergy and Immunology Unit, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Hamad MH; Division of Neurology, Department of Pediatric Neurology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., AlShammari MJ; Department of Genetics and Metabolic, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Jamjoom DZ; Department of Radiology and Medical Imaging, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Musibeeh NS; Allergy and Immunology Unit, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2023 Sep 29; Vol. 11, pp. 1269396. Date of Electronic Publication: 2023 Sep 29 (Print Publication: 2023).

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Autor: Matuozzo D; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Talouarn E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Marchal A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Manry J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Zhang Y; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., Bolze A; Helix, San Mateo, CA, USA., Chaldebas M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Milisavljevic B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Asano T; 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 U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Barzaghi F; Department of Paediatric Immunohematology, IRCCS San Raffaele Scientific Institute, Milan, Italy., Abolhassani H; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, Iran., Abou Tayoun A; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Aiuti A; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCSS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy., Alavi Darazam I; 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., Allende LM; Immunology Department, University Hospital 12 de Octubre, Research Institute imas12 and Complutense University, Madrid, Spain., Alonso-Arias R; Immunology Department, Hospital Universitario Central de Asturias; Health Research Institute of Principality of Asturias, Oviedo, Spain., Arias AA; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Microbiology and Parasitology, Primary Immunodeficiencies Group, School of Medicine, University of Antioquia UdeA, 050010, Medellin, Colombia.; School of Microbiology, University of Antioquia UdeA, 050010, Medellin, Colombia., Aytekin G; Deparment of Internal Medicine, Division of Allergy and Immunology, Konya City Hospital, Konya, Turkey., Bergman P; Department of Infectious Diseases, The Immunodeficiency Unit, Karolinska University Hospital, Stockholm, Sweden.; Department of Laboratory Medicine, Division of Clinical Immunology, Stockholm, Sweden., Bondesan S; Clinical Genomics, IRCSS San Raffaele Scientific Institute, Milan, Italy., Bryceson YT; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institute, Stockholm, Sweden., Bustos IG; Universidad de La Sabana, Chía, Colombia., Cabrera-Marante O; Institute of Biomedical Research of IdiPAZ, University Hospital 'La Paz', Madrid, Spain., Carcel S; Unidad de Gestión Clínica de Cuidados Intensivos, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Hospital Universitario Reina Sofía, Universidad de Córdoba (UCO), Córdoba, Spain., Carrera P; Clinical Genomics, IRCSS San Raffaele Scientific Institute, Milan, Italy., Casari G; Division of Genetics and Cell Biology, Genome-Phenome Relationship, San Raffaele Hospital, Milan, Italy.; School of Medicine, Vita-Salute San Raffaele University, Milan, Italy., Chaïbi K; Intensive Care Unit Department, Avicenne Hospital, Assistance Publique-Hôpitaux de Paris, Bobigny, France.; Common and Rare Kidney Diseases, Sorbonne University, INSERM UMR-S 1155, Paris, France., Colobran R; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Genetics Department, Immunology Division, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain., Condino-Neto A; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil., Covill LE; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institute, Stockholm, Sweden., Delmonte OM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., El Zein L; Biology Department, Lebanese University, Beirut, Lebanon., Flores C; Genomics Division, Institute of Technology and Renewable Energies (ITER), Santa Cruz de Tenerife, Spain.; CIBER de Enfermedades Respiratorias, Carlos III Health Institute, Madrid, Spain.; Research Unit, University Hospital of Ntra. Sra. de Candelaria, Santa Cruz de Tenerife, Spain.; Faculty of Health Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain., Gregersen PK; Feinstein Institute for Medical Research, Northwell Health USA, Manhasset, NY, USA., Gut M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Haerynck F; Department of Internal Diseases and Pediatrics, Primary Immune Deficiency Research Laboratory, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent, Belgium., Halwani R; Research Institute for Medical and Health Sciences, University of Sharjah, Sharjah, United Arab Emirates., Hancerli S; Department of Pediatrics (Infectious Diseases), Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Hammarström L; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., Hatipoğlu N; Pediatric Infectious Diseases Unit, Bakirkoy Dr Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Karbuz A; Department of Pediatric Infectious Disease, Dr. Cemil Tascioglu City Hospital, Istanbul, Turkey., Keles S; Meram Medical Faculty, Pediatric Infectious Diseases Department, Necmettin Erbakan University, Konya, Turkey., Kyheng C; Department of General Paediatrics, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France., Leon-Lopez R; Unidad de Gestión Clínica de Cuidados Intensivos, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Hospital Universitario Reina Sofía, Universidad de Córdoba (UCO), Córdoba, Spain., Franco JL; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UDEA, Medellin, 050010, Colombia., Mansouri D; The Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Martinez-Picado J; IrsiCaixa AIDS Research Institute and Institute for Health Science Research Germans Trias I Pujol (IGTP), Badalona, Spain.; Institute for Health Science Research Germans Trias I Pujol (IGTP), Badalona, Spain.; Department of Infectious Diseases and Immunity, University of Vic-Central University of Catalonia, Vic, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Consorcio Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, Madrid, Spain., Metin Akcan O; Meram Medical Faculty, Pediatric Infectious Diseases Department, Necmettin Erbakan University, Konya, Turkey., Migeotte I; Centre de Génétique Humaine de L'Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium., Morange PE; Laboratory of Haematology, La Timone Hospital, Marseille, France.; C2VN, INSERM, INRAE, Aix-Marseille University, Marseille, France., Morelle G; Department of General Paediatrics, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France., Martin-Nalda A; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection and Immunity in 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., Novelli G; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy.; IRCCS Neuromed, Pozzilli, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Ozcelik T; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey., Palabiyik F; Pediatric Infectious Diseases Unit, Bakirkoy Dr Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Pan-Hammarström Q; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., de Diego RP; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, University Hospital 'La Paz', Madrid, Spain., Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Pleguezuelo DE; Immunology Department, University Hospital 12 de Octubre, Research Institute imas12 and Complutense University, Madrid, Spain., Prando C; Faculdades Pequeno Príncipe, Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, Brazil., Pujol A; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Reyes LF; Universidad de La Sabana, Chía, Colombia., Rivière JG; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection and Immunity in 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., Rodriguez-Gallego C; Department of Immunology, University Hospital of Gran Canaria Dr. Negrin, Canarian Health System, Las Palmas de Gran Canaria, Spain.; Department of Clinical Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain., Rojas J; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UDEA, Medellin, 050010, Colombia., Rovere-Querini P; Vita-Salute San Raffaele University, Milan, Italy.; Division of Immunology, Transplantation and Infectious Diseases, IRCCS San Raffaele Scientific Institute, Milan, Italy., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., 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., Sobh A; Department of Pediatrics, Mansoura University Children's Hospital, Mansoura University Faculty of Medicine, Mansoura, Egypt., Soler-Palacin P; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection and Immunity in 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., Tandjaoui-Lambiotte Y; Hypoxia and Lung, INSERM U1272, Avicenne Hospital, Assistance Publique-Hôpitaux de Paris, Bobigny, France., Tipu I; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan., Tresoldi C; Division of Immunology, Transplantation and Infectious Diseases, IRCCS Ospedale San Raffaele, Milan, Italy., Troya J; Department of Internal Medicine, Infanta Leonor University Hospital, Madrid, Spain., van de Beek D; Department of Neurology, Amsterdam UMC, Amsterdam Neuroscience, Amsterdam, Netherlands., Zatz M; Biosciences Institute, University of São Paulo, São Paulo, Brazil., Zawadzki P; Gordion Bioscience Inc, Cambridge, MA, USA.; Faculty of Physics, Adam Mickiewicz University, Poznan, Poland., Al-Muhsen SZ; Department of Pediatrics, Immunology Research Laboratory, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Alosaimi MF; Department of Pediatrics, Immunology Research Laboratory, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Alsohime FM; Department of Pediatrics, Immunology Research Laboratory, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Baris-Feldman H; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Butte MJ; Departments of Pediatrics and Microbiology, Immunology, and Molecular Genetics, Division of Immunology, Allergy, and Rheumatology, University of California Los Angeles, Los Angeles, CA, USA., Constantinescu SN; Ludwig Institute for Cancer Research, Brussels, Belgium.; SIGN Unit, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.; WELBIO (Walloon Excellence in Life Sciences and Biotechnology), Brussels, Belgium.; Nuffield Department of Medicine, Ludwig Institute for Cancer Research, Oxford University, Oxford, UK., Cooper MA; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St. Louis, St. Louis, MO, USA., Dalgard CL; The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, USA.; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Fellay J; School of Life Sciences, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.; Swiss Institute of Bioinformatics, Lausanne, Switzerland.; Precision Medicine Unit, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Heath JR; Institute for Systems Biology, Seattle, WA, USA., Lau YL; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China., Lifton RP; Laboratory of Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, CT, USA., Maniatis T; Zukerman Mind Brain Behavior Institute, Columbia University, New York, NY, USA.; New York Genome Center, New York, NY, USA., Mogensen TH; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Department of Infectious Diseases, Aarhus University Hospital, Aarhus, Denmark., von Bernuth H; Department of Paediatric Respiratory Medicine, Immunology, and Critical Care Medicine, Charité Universitätsmedizin Berlin, Berlin, Germany., Lermine A; Laboratoire de Biologie Médicale Multisites Seqoia, MG2025, MG2025, Paris, France., Vidaud M; Laboratoire de Biologie Médicale Multisites Seqoia, MG2025, MG2025, Paris, France., Boland A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Nussbaum R; Invitae, San Francisco, CA, USA., Kahn-Kirby A; Invitae, San Francisco, CA, USA., Mentre F; Unité de Recherche Clinique, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, Paris, France., Tubiana S; Centre d'Investigation Clinique, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, Paris, France., Gorochov G; Sorbonne Université, INSERM Centre d'Immunologie et des Maladies Infectieuses, CIMI-Paris, Département d'immunologie Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Tubach F; Sorbonne Université, INSERM, Institut Pierre Louis d'Epidémiologie et de Santé Publique, AP-HP, Hôpital Pitié Salpêtrière, Département de Santé Publique, Unité de Recherche Clinique PSL-CFX , CIC-1901, Paris, France., Hausfater P; Emergency Department, Hôpital Pitié-Salpêtrière, APHP-Sorbonne Université, Paris, France.; GRC-14 BIOFAST Sorbonn Université, UMR INSERM 1135, CIMI, Sorbonne Université, Paris, France., Meyts I; Department of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium., Zhang SY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Notarangelo LD; Laboratory of Host Defenses, NIAID, National Institutes of Health, Bethesda, MA, USA., Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Su HC; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, 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 U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. casanova@rockefeller.edu.; University Paris Cité, 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., Zhang Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, 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 U1163, Paris, France. aurelie.cobat@inserm.fr.; University Paris Cité, Imagine Institute, Paris, France. aurelie.cobat@inserm.fr.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. aurelie.cobat@inserm.fr.

Publikováno v: Genome medicine [Genome Med] 2023 Apr 05; Vol. 15 (1), pp. 22. Date of Electronic Publication: 2023 Apr 05.

Clinical and biochemical characteristics of people experiencing post-coronavirus disease 2019-related symptoms: A prospective follow-up investigation.

Autor: Alfadda AA; Strategic Center for Diabetes Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Obesity Research Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Department of Internal Medicine, College of Medicine, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Rafiullah M; Strategic Center for Diabetes Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Alkhowaiter M; Department of Internal Medicine, College of Medicine, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Alotaibi N; Department of Medicine, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Alzahrani M; Department of Internal Medicine, College of Medicine, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.; Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Binkhamis K; Department of Pathology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Siddiqui K; Strategic Center for Diabetes Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Youssef A; Strategic Center for Diabetes Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Altalhi H; Infection Control Department, King Khalid University Hospital, King Saud University Medical City, Riyadh, Saudi Arabia., Almaghlouth I; Rheumatology Department, King Khalid University Hospital, King Saud University Medical City, Riyadh, Saudi Arabia., Alarifi M; Intensive Care Department, King Khalid University Hospital, King Saud University Medical City, Riyadh, Saudi Arabia., Albanyan S; Department of Internal Medicine, College of Medicine, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Alosaimi MF; Department of Pediatrics, King Khalid University Hospital, King Saud University Medical City, Riyadh, Saudi Arabia., Isnani A; Obesity Research Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Nawaz SS; Strategic Center for Diabetes Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Alayed K; Department of Internal Medicine, College of Medicine, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.; Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Publikováno v: Frontiers in medicine [Front Med (Lausanne)] 2022 Dec 06; Vol. 9, pp. 1067082. Date of Electronic Publication: 2022 Dec 06 (Print Publication: 2022).

Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.

Autor: Ogishi M; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Arias AA; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Primary Immunodeficiencies Group, University of Antioquia, Medellin, Colombia.; School of Microbiology, University of Antioquia, Medellin, Colombia., Yang R; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Han JE; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Zhang P; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Rinchai D; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Halpern J; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Mulwa J; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Keating N; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Walter and Eliza Hall Institute of Medical Research, Department of Medical Biology, University of Melbourne, Melbourne, Australia., Chrabieh M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Lainé C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Ramírez-Alejo N; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Nekooie-Marnany N; Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran., Guennoun A; Sidra Medicine, Doha, Qatar., Muller-Fleckenstein I; Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, Erlangen, Germany., Fleckenstein B; Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, Erlangen, Germany., Kilic SS; Department of Pediatric Immunology and Rheumatology, Faculty of Medicine, Uludag University, Bursa, Turkey., Minegishi Y; Division of Molecular Medicine, Institute of Advanced Medical Sciences, Tokushima University, Tokushima, Japan., Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Kaiser-Labusch P; Eltern- Kind -Zentrum Prof. Hess, Klinikum Bremen-Mitte, Bremen, Germany., Kendir-Demirkol Y; Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Rozenberg F; Laboratory of Virology, Assistance Publique-Hôpitaux de Paris, Cochin Hospital, Paris, France., Errami A; Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco., Zhang SY; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Zhang Q; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Bohlen J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Puel A; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Jouanguy E; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Pourmoghaddas Z; Department of Pediatric Infectious Disease, Isfahan University of Medical Sciences, Isfahan, Iran., Bakhtiar S; Division for Stem Cell Transplantation, Immunology and Intensive Care Medicine, Department for Child and Adolescent Medicine, University Hospital Frankfurt, Frankfurt, Germany., Willasch AM; Division for Stem Cell Transplantation, Immunology and Intensive Care Medicine, Department for Child and Adolescent Medicine, University Hospital Frankfurt, Frankfurt, Germany., Horneff G; Center for Pediatric Rheumatology, Department of Pediatrics, Asklepios Clinic Sankt Augustin, Sankt Augustin, Germany.; Medical Faculty, University of Cologne, Cologne, Germany., Llanora G; Division of Allergy and Immunology, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute, National University Health System, Singapore., Shek LP; Division of Allergy and Immunology, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute, National University Health System, Singapore.; Department of Pediatrics, National University of Singapore, Singapore., Chai LYA; Division of Infectious Diseases, Department of Medicine, National University Health System, Singapore.; Synthetic Biology for Clinical and Technological Innovation, Life Sciences Institute; Synthetic Biology Translational Research Program, National University of Singapore.; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Tay SH; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Division of Rheumatology, Department of Medicine, National University Hospital, Singapore., Rahimi HH; Department of Pediatrics, Isfahan University of Medical Sciences, Isfahan, Iran., Mahdaviani SA; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Nepesov S; Department of Pediatric Allergy and Immunology, Istanbul Medipol University, Istanbul, Turkey., Bousfiha AA; Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, Ibn-Rochd Hospital, Casablanca, Morocco., Erdeniz EH; Division of Pediatric Infectious Diseases, Ondokuz Mayıs University, Samsun, Turkey., Karbuz A; Division of Pediatric Infectious Diseases, Okmeydani Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Marr N; Sidra Medicine, Doha, Qatar., Navarrete C; Department of Immunology, Hospital de Niños Roberto del Río, Santiago de Chile, Chile., Adeli M; Division of Allergy and Immunology, Sidra Medicine/Hamad Medical Corp., Doha, Qatar., Hammarstrom L; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.; Beijing Genomics Institute, Shenzhen, China.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., 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., Parvaneh N; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Al Muhsen S; Immunology Research Laboratory, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Alosaimi MF; Immunology Research Laboratory, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Alsohime F; Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Pediatric Intensive Care Unit, King Saud University Medical City, Riyadh, Saudi Arabia., Nourizadeh M; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Moin M; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Arnaout R; Section of Allergy & Immunology, Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Al Faisal University, Riyadh, Saudi Arabia., Alshareef S; Section of Allergy & Immunology, Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., El-Baghdadi J; Genetics Unit, Mohamed V Military Hospital, Hay Riad, Rabat, Morocco., Genel F; University of Health Sciences, Dr Behçet Uz Children's Hospital, Division of Pediatric Immunology, Izmir, Turkey., Sherkat R; Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran., Kiykim A; Pediatric Allergy and Immunology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Yücel E; Division of Pediatric Allergy and Immunology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Keles S; Division of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey., Bustamante J; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France., Abel L; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Casanova JL; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Howard Hughes Medical Institute, New York, NY.; Deparment of Pediatrics, Necker Hospital for Sick Children, Paris, France., Boisson-Dupuis S; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2022 Oct 03; Vol. 219 (10). Date of Electronic Publication: 2022 Sep 12.