Tuberculosis in otherwise healthy adults with inherited TNF deficiency.

Autor: Arias AA; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia.; School of Microbiology, University of Antioquia UdeA, Medellín, Colombia.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. anna-lena.neehus@childrens.harvard.edu.; Paris Cité University, Imagine Institute, Paris, France. anna-lena.neehus@childrens.harvard.edu., Ogishi M; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Meynier V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Krebs A; Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Immunology and Microbial Pathogenesis Program, Weill Cornell Medicine, New York, NY, USA., Lazarov T; Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Immunology and Microbial Pathogenesis Program, Weill Cornell Medicine, New York, NY, USA., Lee AM; Immunology and Microbial Pathogenesis Program, Weill Cornell Medicine, New York, NY, USA.; Department of Microbiology & Immunology, Weill Cornell Medicine, New York, NY, USA., Arango-Franco CA; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Yang R; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Orrego J; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Corcini Berndt M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Rojas J; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Li H; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Rinchai D; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Erazo-Borrás L; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Han JE; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Pillay B; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Kensington, New South Wales, Australia., Ponsin K; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Chaldebas M; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; 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., Bohlen J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance publique-Hôpitaux de Paris (AP-HP), Paris, France., Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Clinical Immunology Department, AP-HP, Saint-Louis Hospital, Paris, France., Janotte T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Amarajeeva K; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Soudée C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Brollo M; Lab VIM Suresnes, UMR 0892, Paris Saclay University, INRAe UVSQ, Suresnes, France., Wiegmann K; Institute for Medical Microbiology, Immunology and Hygiene, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Marquant Q; Lab VIM Suresnes, UMR 0892, Paris Saclay University, INRAe UVSQ, Suresnes, France., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Lee D; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; 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., Kloos D; Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.; REBIRTH-Research Center for Translational Regenerative Medicine, Hannover, Germany., Bailey R; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Bastard P; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Pediatric Immunology-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France., Keating N; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia., Rapaport F; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Khan T; The Jackson Laboratory, Farmington, CT, USA., Moncada-Vélez M; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Carmona MC; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Obando C; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Alvarez J; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Cataño JC; Infectious Diseases Section, Department of Internal Medicine, School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Martínez-Rosado LL; Latin American Research Team in Infectiology and Public Health (ELISAP), La Maria Hospital, Medellín, Colombia., Sanchez JP; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Tejada-Giraldo M; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia., L'Honneur AS; Department of Virology, Paris Cité University and Cochin Hospital, AP-HP, Paris, France., Agudelo ML; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Perez-Zapata LJ; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Arboleda DM; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Alzate JF; National Center for Genome Sequencing (CNSG), School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Cabarcas F; National Center for Genome Sequencing (CNSG), School of Medicine, University of Antioquia UdeA, Medellín, Colombia.; SISTEMIC Group, Department of Electronic Engineering, Faculty of Engineering, University of Antioquia UdeA, Medellín, Colombia., Zuluaga A; Corporation for Biological Research (CIB), Medellín, Colombia., Pelham SJ; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Ensser A; University Hospital Erlangen, Institute of Virology, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany., Schmidt M; University Hospital Erlangen, Institute of Virology, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany., Velásquez-Lopera MM; Dermatology Section, Department of Internal Medicine, School of Medicine, University of Antioquia UdeA, Medellín, Colombia.; Dermatological Research Center (CIDERM), Medellín, Colombia., Jouanguy E; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; 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, Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Krönke M; Institute for Medical Microbiology, Immunology and Hygiene, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Ghirardello S; Neonatal Intensive Care Unit, San Matteo Research Hospital, Pavia, Italy., Borghesi A; Neonatal Intensive Care Unit, San Matteo Research Hospital, Pavia, Italy.; School of Life Sciences, Swiss Federal Institute of Technology, Lausanne, Switzerland., Pahari S; Host Pathogen Interactions program, Texas Biomedical Research Institute, San Antonio, TX, USA., Boisson B; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Pittaluga S; Center for Cancer Research, Laboratory of Pathology, NCI, NIH, Bethesda, MD, USA., Ma CS; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Kensington, New South Wales, Australia., Emile JF; Department of Pathology, Ambroise Paré Hospital, AP-HP, Boulogne-Billancourt, France., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA., Tangye SG; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Kensington, New South Wales, Australia., Marr N; Department of Human Immunology, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Lachmann N; Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.; REBIRTH-Research Center for Translational Regenerative Medicine, Hannover, Germany.; Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH), Hannover, Germany.; Cluster of Excellence RESIST (EXC 2155), Hannover Medical School, Hannover, Germany., Salvator H; Clinical Immunology Department, AP-HP, Saint-Louis Hospital, Paris, France.; Respiratory Diseases Department, FOCH Hospital, Suresnes, France.; Simone Veil Department of Health Sciences, Versailles Saint Quentin University, Montigny le Bretonneux, France., Schlesinger LS; Host Pathogen Interactions program, Texas Biomedical Research Institute, San Antonio, TX, USA., Zhang P; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Glickman MS; Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Immunology and Microbial Pathogenesis Program, Weill Cornell Medicine, New York, NY, USA., Nathan CF; Immunology and Microbial Pathogenesis Program, Weill Cornell Medicine, New York, NY, USA.; Department of Microbiology & Immunology, Weill Cornell Medicine, New York, NY, USA., Geissmann F; Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Immunology and Microbial Pathogenesis Program, Weill Cornell Medicine, New York, NY, USA., Abel L; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Franco JL; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellín, Colombia. jose.franco@udea.edu.co., Bustamante J; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance publique-Hôpitaux de Paris (AP-HP), Paris, France., Casanova JL; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA. casanova@mail.rockefeller.edu.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. casanova@mail.rockefeller.edu.; Paris Cité University, Imagine Institute, Paris, France. casanova@mail.rockefeller.edu.; Howard Hughes Medical Institute, New York, NY, USA. casanova@mail.rockefeller.edu.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France. casanova@mail.rockefeller.edu., Boisson-Dupuis S; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.

Publikováno v: Nature [Nature] 2024 Sep; Vol. 633 (8029), pp. 417-425. Date of Electronic Publication: 2024 Aug 28.

STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.

Autor: Pelham SJ; Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia., Caldirola MS; Grupo de Inmunología, Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas, Hospital de Niños 'Dr. Ricardo Gutierrez,' Buenos Aires, Argentina., Avery DT; Garvan Institute of Medical Research, Darlinghurst, Australia., Mackie J; Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia., Rao G; Garvan Institute of Medical Research, Darlinghurst, Australia., Gothe F; Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom; Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany., Peters TJ; Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia., Guerin A; Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia., Neumann D; Faculty of Medicine, University Hospital Hradec Kralove, Charles University, Prague, Czech Republic., Vokurkova D; Faculty of Medicine, University Hospital Hradec Kralove, Charles University, Prague, Czech Republic., Hwa V; Department of Pediatrics, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio., Zhang W; Department of Surgery, Stanford University, Stanford, Calif., Lyu SC; Division of Pulmonary, Allergy, and Critical Care Medicine, Stanford University, Stanford, Calif; Sean N. Parker Center for Allergy and Asthma Research, Stanford, Calif., Chang I; Division of Pulmonary, Allergy, and Critical Care Medicine, Stanford University, Stanford, Calif; Sean N. Parker Center for Allergy and Asthma Research, Stanford, Calif., Manohar M; Sean N. Parker Center for Allergy and Asthma Research, Stanford, Calif; Division of Pulmonary, Allergy, and Critical Care Medicine, Stanford University, Stanford, Calif., Nadeau KC; Sean N. Parker Center for Allergy and Asthma Research, Stanford, Calif; Division of Pulmonary, Allergy, and Critical Care Medicine, Stanford University, Stanford, Calif., Gaillard MI; Grupo de Inmunología, Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas, Hospital de Niños 'Dr. Ricardo Gutierrez,' Buenos Aires, Argentina., Bezrodnik L; Grupo de Inmunología, Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas, Hospital de Niños 'Dr. Ricardo Gutierrez,' Buenos Aires, Argentina; Center for Clinical Immunology, Buenos Aires, Argentina., Iotova V; Department of Pediatrics, Medical University-Varna, Varna, Bulgaria; Pediatric Endocrinology, University Hospital 'St Marina,' Varna, Bulgaria., Zwirner NW; Instituto de Biología y Medicina Experimental, Laboratorio de Fisiopatología de la Inmunidad Innata, Buenos Aires, Argentina; Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Argentina., Gutierrez M; Rocky Mountain Hospital for Children/Presbyterian St Luke's Medical Center, Denver, Colo., Al-Herz W; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Goodnow CC; Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia., Vargas-Hernández A; Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Allergy, Immunology, and Retrovirology, William T. Shearer Center for Human Immunobiology, Texas Children's Hospital, Houston, Tex., Forbes Satter LR; Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Allergy, Immunology, and Retrovirology, William T. Shearer Center for Human Immunobiology, Texas Children's Hospital, Houston, Tex., Hambleton S; Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom; Great North Children's Hospital, Newcastle upon Tyne Hospitals, National Health Service Foundation Trust, Newcastle upon Tyne, United Kingdom., Deenick EK; Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia., Ma CS; Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia., Tangye SG; Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia. Electronic address: s.tangye@garvan.org.au.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2022 Oct; Vol. 150 (4), pp. 931-946. Date of Electronic Publication: 2022 Apr 22.

Biallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant.

Autor: Blanco Lobo P; Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, IBiS/ Universidad de Sevilla/CSIC, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Seville, Spain., Lei WT; 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., Guisado Hernández P; Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, IBiS/ Universidad de Sevilla/CSIC, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Seville, Spain., Villaoslada I; Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, IBiS/ Universidad de Sevilla/CSIC, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Seville, Spain., de Felipe B; Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, IBiS/ Universidad de Sevilla/CSIC, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Seville, Spain., Lucena JM; Immunology Unit. University Hospital Virgen del Rocío, Seville, Spain., Casanova JL; 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, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Howard Hughes Medical Institute, New York, NY, USA., Olbrich P; Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, IBiS/ Universidad de Sevilla/CSIC, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Seville, Spain., 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, Paris, France.; University of Paris, Imagine Institute, Paris, France., Neth O; Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, IBiS/ Universidad de Sevilla/CSIC, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Seville, Spain.

Publikováno v: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology [Pediatr Allergy Immunol] 2021 Nov; Vol. 32 (8), pp. 1804-1812. Date of Electronic Publication: 2021 Aug 09.

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).

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.

Autor: Marujo F; Primary Immunodeficiencies Unit, Hospital Dona Estefânia-CHLC, EPE, Rua Jacinta Marto, 1169-045, Lisbon, Portugal. filipa.marujo10@gmail.com., Pelham SJ; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, 10065, USA., Freixo J; Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Instituto de Investigação e Inovação em Saúde, Porto, Portugal., Cordeiro AI; Primary Immunodeficiencies Unit, Hospital Dona Estefânia-CHLC, EPE, Rua Jacinta Marto, 1169-045, Lisbon, Portugal., Martins C; CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal., Casanova JL; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015, Paris, France.; Howard Hughes Medical Institute, New York, NY, USA., Lei WT; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, 10065, USA.; Section of Immunology, Rheumatology, and Allergy, Department of Pediatrics, Hsinchu Mackay Memorial Hospital, Hsinchu City, Taiwan.; Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan City, Taiwan., Puel A; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015, Paris, France., Neves JF; Primary Immunodeficiencies Unit, Hospital Dona Estefânia-CHLC, EPE, Rua Jacinta Marto, 1169-045, Lisbon, Portugal. joao.farelaneves@gmail.com.; CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal. joao.farelaneves@gmail.com.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2021 Aug; Vol. 41 (6), pp. 1376-1379. Date of Electronic Publication: 2021 Apr 07.