Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

Nature Genetics - Tập 48 Số 1 - Trang 67-73 - 2016
Qing Zhou1, Hongying Wang1, Daniella M. Schwartz2, Monique Stoffels1, Yong Hwan Park1, Yuan Zhang3, Dan Yang4, Erkan Demirkaya5, Masaki Takeuchi1, Wanxia Li Tsai6, Jonathan J. Lyons3, Xiaomin Yu3, Claudia Ouyang7, Celeste Chen1, David T. Chin1, Kristien J.M. Zaal8, Settara C. Chandrasekharappa9, Eric P. Hanson7, Zhen Yu4, James C. Mullikin10, Sarfaraz Hasni11, Ingrid E. Wertz12, Amanda K. Ombrello1, Deborah L. Stone1, Patrycja Hoffmann1, Anne Jones1, Beverly Barham1, Helen L. Leavis13, Annet van Royen-Kerkof14, Cailin H. Sibley15, Ezgi Deniz Batu16, Ahmet Gül17, Richard M. Siegel7, Manfred Boehm4, Joshua D. Milner3, Seza Özen16, Massimo Gadina6, JaeJin Chae1, Ronald M. Laxer18, Daniel L. Kastner1, Ivona Aksentijevich1
1Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA
2Molecular Immunology and Inflammation Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA
3Genetics and Pathogenesis of Allergy Section, National Institute of Allergy and Infectious Diseases, Laboratory of Allergic Diseases, Bethesda, Maryland, USA
4Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA
5FMF Arthritis Vasculitis and Orphan Disease Research Center (FAVOR), Gulhane Military Medical Academy, Ankara, Turkey
6Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA
7Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA
8Light Imaging Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA
9Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA
10National Institute of Health Intramural Sequencing Center, National Human Genome Research Institute, Bethesda, Maryland, USA
11Systemic Autoimmune Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA
12Department of Molecular Oncology, Genentech, Inc., San Francisco, California, USA
13Department of Medical Microbiology, University Medical Center Utrecht, Utrecht, The Netherlands
14Department of Pediatric Immunology, University Medical Center Utrecht, Utrecht, The Netherlands
15Division of Arthritis and Rheumatic Diseases, Oregon Health and Science University, Portland, Oregon, USA
16Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey
17Department of Internal Medicine, Istanbul University, Istanbul, Turkey
18Division of Rheumatology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

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Nature Genetics

Tập 48 Số 1

67-73

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