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Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.

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Title: Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
Authors: Li J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Lei WT; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; 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., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Rapaport F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Lyu B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Asano T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Hammadi B; General Chemistry Laboratory, Department of Clinical Chemistry, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France., Zhang Y; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Pelham SJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Spaan AN; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Migaud M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Hum D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Bigio B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Chrabieh M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale 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.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, France., 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, 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, Institut National de la Santé et de la Recherche Médicale 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.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., El Baghdadi J; Genetics Unit, Military Hospital Mohamed V, Rabat, Morocco., Aimanianda V; Molecular Mycology Unit, Pasteur Institute, Centre National de la Recherche Scientifique UMR 2000, Paris, France., Thoma K; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwigs University of Freiburg, Freiburg, Germany., Fliegauf M; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwigs University of Freiburg, Freiburg, Germany.; Centre for Integrative Biological Signalling Studies, Albert Ludwigs University, Freiburg, Germany., Grimbacher B; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwigs University of Freiburg, Freiburg, Germany.; German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany.; Centre for Integrative Biological Signalling Studies, Albert Ludwigs University, Freiburg, Germany.; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany., Korganow AS; Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, University Hospitals of Strasbourg, Strasbourg, France., Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO.; School of Medicine, University of Missouri-Kansas City, Kansas City, MO., Rao VK; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Uzel G; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Freeman AF; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Holland SM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Su HC; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Cunningham-Rundles C; Division of Clinical Immunology, Icahn School of Medicine at Mount Sinai, New York, NY., Fieschi C; Department of Clinical Immunology, Saint-Louis Hospital, 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Cobat 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Howard Hughes Medical Institute, New York, NY., Zhang Q; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Boisson B; 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.
Source: The Journal of experimental medicine [J Exp Med] 2021 Nov 01; Vol. 218 (11). Date of Electronic Publication: 2021 Sep 02.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
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  Data: <searchLink fieldCode="AU" term="%22Li+J%22">Li J</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Lei+WT%22">Lei WT</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; 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.<br /><searchLink fieldCode="AU" term="%22Zhang+P%22">Zhang P</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Rapaport+F%22">Rapaport F</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Seeleuthner+Y%22">Seeleuthner Y</searchLink>; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lyu+B%22">Lyu B</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Asano+T%22">Asano T</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Rosain+J%22">Rosain J</searchLink>; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hammadi+B%22">Hammadi B</searchLink>; General Chemistry Laboratory, Department of Clinical Chemistry, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Zhang+Y%22">Zhang Y</searchLink>; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Pelham+SJ%22">Pelham SJ</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Spaan+AN%22">Spaan AN</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Migaud+M%22">Migaud M</searchLink>; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hum+D%22">Hum D</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Bigio+B%22">Bigio B</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Chrabieh+M%22">Chrabieh M</searchLink>; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Béziat+V%22">Béziat V</searchLink>; 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bustamante+J%22">Bustamante J</searchLink>; 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, France.<br /><searchLink fieldCode="AU" term="%22Zhang+SY%22">Zhang SY</searchLink>; 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Jouanguy+E%22">Jouanguy E</searchLink>; 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Boisson-Dupuis+S%22">Boisson-Dupuis S</searchLink>; 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22El+Baghdadi+J%22">El Baghdadi J</searchLink>; Genetics Unit, Military Hospital Mohamed V, Rabat, Morocco.<br /><searchLink fieldCode="AU" term="%22Aimanianda+V%22">Aimanianda V</searchLink>; 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Centre for Integrative Biological Signalling Studies, Albert Ludwigs University, Freiburg, Germany.; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Korganow+AS%22">Korganow AS</searchLink>; Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, University Hospitals of Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Saunders+C%22">Saunders C</searchLink>; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO.; School of Medicine, University of Missouri-Kansas City, Kansas City, MO.<br /><searchLink fieldCode="AU" term="%22Rao+VK%22">Rao VK</searchLink>; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Uzel+G%22">Uzel G</searchLink>; 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Department of Clinical Immunology, Saint-Louis Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Abel+L%22">Abel L</searchLink>; 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Puel+A%22">Puel A</searchLink>; 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cobat+A%22">Cobat A</searchLink>; 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Casanova+JL%22">Casanova JL</searchLink>; 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Howard Hughes Medical Institute, New York, NY.<br /><searchLink fieldCode="AU" term="%22Zhang+Q%22">Zhang Q</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Boisson+B%22">Boisson B</searchLink>; 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, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.
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      – TitleFull: Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
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          Name:
            NameFull: Fieschi C
      – PersonEntity:
          Name:
            NameFull: Abel L
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            NameFull: Puel A
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          Name:
            NameFull: Cobat A
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            NameFull: Casanova JL
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          Name:
            NameFull: Zhang Q
      – PersonEntity:
          Name:
            NameFull: Boisson B
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      – BibEntity:
          Dates:
            – D: 01
              M: 11
              Text: 2021 Nov 01
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-electronic
              Value: 1540-9538
          Numbering:
            – Type: volume
              Value: 218
            – Type: issue
              Value: 11
          Titles:
            – TitleFull: The Journal of experimental medicine
              Type: main
ResultId 1