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
Description
ISSN:1540-9538
DOI:10.1084/jem.20210566