IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.
Autorzy:
Okada S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan. Markle JG; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA. Deenick EK; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia. Mele F; Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland. Averbuch D; Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel. Lagos M; Department of Immunology, School of Medicine, Universidad de Valparaíso, Santiago, Chile.; Department of Pediatrics, Padre Hurtado Hospital and Clinica Alemana, Santiago, Chile. Alzahrani M; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Al-Muhsen S; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Pediatrics, Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Halwani R; Department of Pediatrics, Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Ma CS; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia. Wong N; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia. Soudais C; Institut Curie, INSERM U932, Paris, France. Henderson LA; Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA. Marzouqa H; Caritas Baby Hospital, Post Office Box 11535, Jerusalem, Israel. Shamma J; Caritas Baby Hospital, Post Office Box 11535, Jerusalem, Israel. Gonzalez M; Department of Immunology, School of Medicine, Universidad de Valparaíso, Santiago, Chile.; Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel. Martinez-Barricarte R; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA. Okada C; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA. AveryDT; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia. Latorre D; Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland. Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France. Jabot-Hanin F; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France. Torrado E; Trudeau Institute, Saranac Lake, NY 12983, USA. Fountain J; Trudeau Institute, Saranac Lake, NY 12983, USA. Belkadi A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France. Itan Y; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA. Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA. Migaud M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France. Arlehamn CSL; La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA. Sette A; La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA. Breton S; Department of Radiology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France. McCluskey J; Department of Microbiology and Immunology, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia. Rossjohn J; Department of Biochemistry and Molecular Biology, School of Biomedical Sciences, Monash University, Clayton, Victoria, Australia.; Australian Research Council Centre of Excellence for Advanced Molecular Imaging, Monash University, Clayton, Victoria, Australia.; Institute of Infection and Immunity, Cardiff University, School of Medicine, Heath Park, Cardiff CF14 4XN, UK. de Villartay JP; Laboratoire Dynamique du Génome et Système Immunitaire, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France. Moshous D; Laboratoire Dynamique du Génome et Système Immunitaire, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.; Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France. Hambleton S; Institute of Cellular Medicine, Newcastle University and Great North Children's Hospital, Newcastle upon Tyne NE4 6BE, UK. Latour S; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France. Arkwright PD; Department of Paediatric Allergy Immunology, University of Manchester, Royal Manchester Children's Hospital, Manchester, UK. Picard C; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.; Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France. Lantz O; Institut Curie, INSERM U932, Paris, France. Engelhard D; Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel. Kobayashi M; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan. Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France. Cooper AM; Trudeau Institute, Saranac Lake, NY 12983, USA. Notarangelo LD; Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.; Manton Center for Orphan Disease Research, Children's Hospital, Boston, MA 02115, USA. Boisson-Dupuis S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France. Puel A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France. Sallusto F; Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.; Center of Medical Immunology, Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland. Bustamante J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France. Tangye SG; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia. Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.; Howard Hughes Medical Institute, New York, NY 10065, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2015 Aug 07; Vol. 349 (6248), pp. 606-613. Date of Electronic Publication: 2015 Jul 09.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.
Autorzy:
Kuehn HS; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA. Ouyang W; Laboratory of Cell Biology, Division of Monoclonal Antibodies, Office of Biotechnology Products, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Bethesda, MD 20892, USA. Lo B; Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.; NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA. Deenick EK; Immunology and Immunodeficiency Group, Immunology Division, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; St. Vincent's Clinical School Faculty of Medicine, University of New South Wales, Sydney, NSW 2010, Australia. Niemela JE; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA. AveryDT; Immunology and Immunodeficiency Group, Immunology Division, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia. Schickel JN; Department of Immunobiology, Yale University School of Medicine, New Haven, CT 06511, USA. Tran DQ; Department of Pediatrics, University of Texas Medical School, Houston, TX 77030, USA. Stoddard J; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA. Zhang Y; NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.; Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA. Frucht DM; Laboratory of Cell Biology, Division of Monoclonal Antibodies, Office of Biotechnology Products, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Bethesda, MD 20892, USA. Dumitriu B; Hematology Branch, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA. Scheinberg P; Hematology Branch, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA. Folio LR; Radiology and Imaging and Sciences, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA. Frein CA; Clinical Research Directorate, Clinical Monitoring Research Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA. Price S; Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.; NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA. Koh C; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA. Heller T; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA. Seroogy CM; Department of Pediatrics, University of Wisconsin, Madison, WI 53706, USA. Huttenlocher A; Department of Pediatrics, University of Wisconsin, Madison, WI 53706, USA.; Department of Medical Microbiology and Immunology, University of Wisconsin, Madison, WI 53706, USA. Rao VK; Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.; NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA. Su HC; NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.; Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA. Kleiner D; Laboratory of Pathology, National Cancer Institute, Bethesda, MD 20892, USA. Notarangelo LD; Division of Immunology and Manton Center for Orphan Disease Research, Children's Hospital, Harvard Medical School, Boston, MA 10217, USA. Rampertaap Y; Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA. Olivier KN; Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA. McElwee J; Merck Research Laboratories, Merck & Co., Boston, MA 02130, USA. Hughes J; Merck Research Laboratories, Merck & Co., Boston, MA 02130, USA. Pittaluga S; Laboratory of Pathology, National Cancer Institute, Bethesda, MD 20892, USA. Oliveira JB; Instituto de Medicina Integral Prof. Fernando Figueira-IMIP, 50070 Recife-PE, Brazil. Meffre E; Department of Immunobiology, Yale University School of Medicine, New Haven, CT 06511, USA. Fleisher TA; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA. Holland SM; NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.; Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA. Lenardo MJ; Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.; NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA. Tangye SG; Immunology and Immunodeficiency Group, Immunology Division, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; St. Vincent's Clinical School Faculty of Medicine, University of New South Wales, Sydney, NSW 2010, Australia. Uzel G; Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2014 Sep 26; Vol. 345 (6204), pp. 1623-1627. Date of Electronic Publication: 2014 Sep 11.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.
Autorzy:
Lucas CL; 1] Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. [2]. Kuehn HS; 1] Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA. [2]. Zhao F; 1] Cell Signaling Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. [2] Pritzker School of Medicine, The University of Chicago, Chicago, Illinois, USA. [3]. Niemela JE; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA. Deenick EK; 1] Immunology and Immunodeficiency Group, Immunology Program, Garvan Institute of Medical Research, Sydney, Australia. [2] St. Vincent's Clinical School Faculty of Medicine, University of New South Wales, Sydney, Australia. Palendira U; 1] Immunology and Immunodeficiency Group, Immunology Program, Garvan Institute of Medical Research, Sydney, Australia. [2] St. Vincent's Clinical School Faculty of Medicine, University of New South Wales, Sydney, Australia. AveryDT; Immunology and Immunodeficiency Group, Immunology Program, Garvan Institute of Medical Research, Sydney, Australia. Moens L; Immunology and Immunodeficiency Group, Immunology Program, Garvan Institute of Medical Research, Sydney, Australia. Cannons JL; Cell Signaling Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. Biancalana M; Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. Stoddard J; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA. Ouyang W; Laboratory of Cell Biology, Division of Monoclonal Antibodies, Office of Biotechnology Products, Center for Drug Evaluation and Research, United States Food and Drug Administration, Bethesda, Maryland, USA. Frucht DM; Laboratory of Cell Biology, Division of Monoclonal Antibodies, Office of Biotechnology Products, Center for Drug Evaluation and Research, United States Food and Drug Administration, Bethesda, Maryland, USA. Rao VK; Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. Atkinson TP; Division of Allergy and Immunology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA. Agharahimi A; 1] Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. [2] Laboratory of Clinical Infectious Diseases, Clinical Research Directorate-Clinical Monitoring Research Program, Science Applications International Corporation-Frederick, Frederick National Laboratory for Clinical Research, Frederick, Maryland, USA. Hussey AA; Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. Folio LR; Radiology and Imaging and Sciences, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA. Olivier KN; Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. Fleisher TA; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA. Pittaluga S; Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA. Holland SM; Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. Cohen JI; Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. Oliveira JB; Instituto de Medicina Integral Prof. Fernando Figueira, Recife-Pernambuco, Brazil. Tangye SG; 1] Immunology and Immunodeficiency Group, Immunology Program, Garvan Institute of Medical Research, Sydney, Australia. [2] St. Vincent's Clinical School Faculty of Medicine, University of New South Wales, Sydney, Australia. Schwartzberg PL; Cell Signaling Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. Lenardo MJ; Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. Uzel G; Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
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Źródło:
Nature immunology [Nat Immunol] 2014 Jan; Vol. 15 (1), pp. 88-97. Date of Electronic Publication: 2013 Oct 28.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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