Art

J-GLOBAL ID：202102222206560769   Reference number：21A3069605

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

生化学的に有害なヒトNFKB1変異体は共通の可変性免疫不全の常染色体優性型の基礎となる【JST・京大機械翻訳】

Author (75)： Li Juan (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Lei Wei-Te (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Lei Wei-Te (Department of Pediatrics, Hsinchu Mackay Memorial Hospital, Hsinchu City, Taiwan) ,  Lei Wei-Te (Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan City, Taiwan) ,  Zhang Peng (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Rapaport Franck (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Seeleuthner Yoann (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Seeleuthner Yoann (University of Paris, Imagine Institute, Paris, France) ,  Lyu Bingnan (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Asano Takaki (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Rosain Jeremie (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Rosain Jeremie (University of Paris, Imagine Institute, Paris, France) ,  Hammadi Boualem (General Chemistry Laboratory, Department of Clinical Chemistry, Necker Hospital for Sick Children, Assistance Publique-Hopitaux de Paris, Paris, France) ,  Zhang Yu (Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD) ,  Pelham Simon J. (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Spaan Andras N. (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Migaud Melanie (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Migaud Melanie (University of Paris, Imagine Institute, Paris, France) ,  Hum David (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Bigio Benedetta (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Chrabieh Maya (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Chrabieh Maya (University of Paris, Imagine Institute, Paris, France) ,  Beziat Vivien (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Beziat Vivien (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Beziat Vivien (University of Paris, Imagine Institute, Paris, France) ,  Bustamante Jacinta (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Bustamante Jacinta (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Bustamante Jacinta (University of Paris, Imagine Institute, Paris, France) ,  Bustamante Jacinta (Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, France) ,  Zhang Shen-Ying (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Zhang Shen-Ying (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Zhang Shen-Ying (University of Paris, Imagine Institute, Paris, France) ,  Jouanguy Emmanuelle (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Jouanguy Emmanuelle (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Jouanguy Emmanuelle (University of Paris, Imagine Institute, Paris, France) ,  Boisson-Dupuis Stephanie (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Boisson-Dupuis Stephanie (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Boisson-Dupuis Stephanie (University of Paris, Imagine Institute, Paris, France) ,  El Baghdadi Jamila (Genetics Unit, Military Hospital Mohamed V, Rabat, Morocco) ,  Aimanianda Vishukumar (Molecular Mycology Unit, Pasteur Institute, Centre National de la Recherche Scientifique UMR 2000, Paris, France) ,  Thoma Katharina (Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwigs University of Freiburg, Freiburg, Germany) ,  Fliegauf Manfred (Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwigs University of Freiburg, Freiburg, Germany) ,  Fliegauf Manfred (Centre for Integrative Biological Signalling Studies, Albert Ludwigs University, Freiburg, Germany) ,  Grimbacher Bodo (Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwigs University of Freiburg, Freiburg, Germany) ,  Grimbacher Bodo (German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany) ,  Grimbacher Bodo (Centre for Integrative Biological Signalling Studies, Albert Ludwigs University, Freiburg, Germany) ,  Grimbacher Bodo (RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany) ,  Korganow Anne-Sophie (Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, University Hospitals of Strasbourg, Strasbourg, France) ,  Saunders Carol (Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, MO) ,  Saunders Carol (Department of Pathology and Laboratory Medicine, Children’s Mercy Hospital, Kansas City, MO) ,  Saunders Carol (School of Medicine, University of Missouri-Kansas City, Kansas City, MO) ,  Rao V. Koneti (Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD) ,  Uzel Gulbu (Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD) ,  Freeman Alexandra F. (Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD) ,  Holland Steven M. (Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD) ,  Su Helen C. (Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD) ,  Cunningham-Rundles Charlotte (Division of Clinical Immunology, Icahn School of Medicine at Mount Sinai, New York, NY) ,  Fieschi Claire (Department of Clinical Immunology, Saint-Louis Hospital, Paris, France) ,  Abel Laurent (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Abel Laurent (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Abel Laurent (University of Paris, Imagine Institute, Paris, France) ,  Puel Anne (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Puel Anne (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Puel Anne (University of Paris, Imagine Institute, Paris, France) ,  Cobat Aurelie (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Cobat Aurelie (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Cobat Aurelie (University of Paris, Imagine Institute, Paris, France) ,  Casanova Jean-Laurent (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Casanova Jean-Laurent (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Casanova Jean-Laurent (University of Paris, Imagine Institute, Paris, France) ,  Casanova Jean-Laurent (Howard Hughes Medical Institute, New York, NY) ,  Zhang Qian (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Boisson Bertrand (St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY) ,  Boisson Bertrand (Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France) ,  Boisson Bertrand (University of Paris, Imagine Institute, Paris, France)
Material： Journal of Experimental Medicine  (J Exp Med)
Volume： 218  Issue： 11  Page： Null  Publication year： 2021 
JST Material Number： A0937B  ISSN： 0022-1007  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Autosomal dominant (AD) NFKB1 ...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=21A3069605&from=J-GLOBAL&jstjournalNo=A0937B") }}

Thesaurus term： heredity ,  human(primates) ,  *dominance ,  *autosome ,  transfection ,  *immunologic deficiency syndrome ,  pathogenesis
Semi thesaurus term： ヘテロ二量体 ,  ホモ二量体 ,  p50 ,  p65 ,  HEK293T細胞 ,  転写活性 ,  転写活性化 ,  ハプロ不全 , 【Automatic Indexing@JST】

JST classification (3)： Gene expression  (EC02040Q) ,  Cell physiology in general  (EF02010S) ,  Biological function  (EB03040U)

Reference (60)：

• Abolhassani. Current genetic landscape in common variable immune deficiency. Blood. 2020, 135, 656. doi:10.1182/blood.2019000929
• Beinke. NF-kappaB1 p105 negatively regulates TPL-2 MEK kinase activity. Mol. Cell. Biol. 2003, 23, 4739. doi:10.1128/MCB.23.14.4739-4752.2003
• Béziat. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Sci. Immunol. 2018, 3, doi:10.1126/sciimmunol.aat4956
• Bogaert. Genes associated with common variable immunodeficiency: one diagnosis to rule them all?. J. Med. Genet. 2016, 53, 575. doi:10.1136/jmedgenet-2015-103690
• Bonilla. International Consensus Document (ICON): Common Variable Immunodeficiency Disorders. J. Allergy Clin. Immunol. Pract. 2016, 4, 38. doi:10.1016/j.jaip.2015.07.025

Terms in the title (8)： 生化学 ,  ヒト ,  変異体 ,  可変性 ,  免疫不全 ,  常染色体 ,  優性 ,  基礎