Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
Ivona Aksentijevich and colleagues identify heterozygous loss-of-function mutations in TNFAIP3 (encoding A20) in six unrelated families with early-onset systemic inflammation. Affected individuals exhibit increased expression of NF-κB–mediated proinflammatory cytokines, consistent with the establish...
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| Published in | Nature genetics Vol. 48; no. 1; pp. 67 - 73 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Nature Publishing Group US
01.01.2016
Nature Publishing Group |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Ivona Aksentijevich and colleagues identify heterozygous loss-of-function mutations in
TNFAIP3
(encoding A20) in six unrelated families with early-onset systemic inflammation. Affected individuals exhibit increased expression of NF-κB–mediated proinflammatory cytokines, consistent with the established role of A20 as a potent inhibitor of the NF-κB signaling pathway.
Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity
1
. Herein we describe a new disease caused by high-penetrance heterozygous germline mutations in
TNFAIP3
, which encodes the NF-κB regulatory protein A20, in six unrelated families with early-onset systemic inflammation. The disorder resembles Behçet's disease, which is typically considered a polygenic disorder with onset in early adulthood
2
. A20 is a potent inhibitor of the NF-κB signaling pathway
3
. Mutant, truncated A20 proteins are likely to act through haploinsufficiency because they do not exert a dominant-negative effect in overexpression experiments. Patient-derived cells show increased degradation of IκBα and nuclear translocation of the NF-κB p65 subunit together with increased expression of NF-κB–mediated proinflammatory cytokines. A20 restricts NF-κB signals via its deubiquitinase activity. In cells expressing mutant A20 protein, there is defective removal of Lys63-linked ubiquitin from TRAF6, NEMO and RIP1 after stimulation with tumor necrosis factor (TNF). NF-κB–dependent proinflammatory cytokines are potential therapeutic targets for the patients with this disease. |
|---|---|
| AbstractList | Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity. Herein we describe a new disease caused by high-penetrance heterozygous germline mutations in TNFAIP3, which encodes the NF-κB regulatory protein A20, in six unrelated families with early-onset systemic inflammation. The disorder resembles Behçet's disease, which is typically considered a polygenic disorder with onset in early adulthood. A20 is a potent inhibitor of the NF-κB signaling pathway. Mutant, truncated A20 proteins are likely to act through haploinsufficiency because they do not exert a dominant-negative effect in overexpression experiments. Patient-derived cells show increased degradation of IκBα and nuclear translocation of the NF-κB p65 subunit together with increased expression of NF-κB-mediated proinflammatory cytokines. A20 restricts NF-κB signals via its deubiquitinase activity. In cells expressing mutant A20 protein, there is defective removal of Lys63-linked ubiquitin from TRAF6, NEMO and RIP1 after stimulation with tumor necrosis factor (TNF). NF-κB-dependent proinflammatory cytokines are potential therapeutic targets for the patients with this disease. Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity. Herein we describe a new disease caused by high-penetrance heterozygous germline mutations in TNFAIP3, which encodes the NF-κB regulatory protein A20, in six unrelated families with early-onset systemic inflammation. The disorder resembles Behçet's disease, which is typically considered a polygenic disorder with onset in early adulthood. A20 is a potent inhibitor of the NF-κB signaling pathway. Mutant, truncated A20 proteins are likely to act through haploinsufficiency because they do not exert a dominant-negative effect in overexpression experiments. Patient-derived cells show increased degradation of IκBα and nuclear translocation of the NF-κB p65 subunit together with increased expression of NF-κB-mediated proinflammatory cytokines. A20 restricts NF-κB signals via its deubiquitinase activity. In cells expressing mutant A20 protein, there is defective removal of Lys63-linked ubiquitin from TRAF6, NEMO and RIP1 after stimulation with tumor necrosis factor (TNF). NF-κB-dependent proinflammatory cytokines are potential therapeutic targets for the patients with this disease.Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity. Herein we describe a new disease caused by high-penetrance heterozygous germline mutations in TNFAIP3, which encodes the NF-κB regulatory protein A20, in six unrelated families with early-onset systemic inflammation. The disorder resembles Behçet's disease, which is typically considered a polygenic disorder with onset in early adulthood. A20 is a potent inhibitor of the NF-κB signaling pathway. Mutant, truncated A20 proteins are likely to act through haploinsufficiency because they do not exert a dominant-negative effect in overexpression experiments. Patient-derived cells show increased degradation of IκBα and nuclear translocation of the NF-κB p65 subunit together with increased expression of NF-κB-mediated proinflammatory cytokines. A20 restricts NF-κB signals via its deubiquitinase activity. In cells expressing mutant A20 protein, there is defective removal of Lys63-linked ubiquitin from TRAF6, NEMO and RIP1 after stimulation with tumor necrosis factor (TNF). NF-κB-dependent proinflammatory cytokines are potential therapeutic targets for the patients with this disease. Ivona Aksentijevich and colleagues identify heterozygous loss-of-function mutations in TNFAIP3 (encoding A20) in six unrelated families with early-onset systemic inflammation. Affected individuals exhibit increased expression of NF-[kappa]B-mediated proinflammatory cytokines, consistent with the established role of A20 as a potent inhibitor of the NF-[kappa]B signaling pathway. Ivona Aksentijevich and colleagues identify heterozygous loss-of-function mutations in TNFAIP3 (encoding A20) in six unrelated families with early-onset systemic inflammation. Affected individuals exhibit increased expression of NF-κB–mediated proinflammatory cytokines, consistent with the established role of A20 as a potent inhibitor of the NF-κB signaling pathway. Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity 1 . Herein we describe a new disease caused by high-penetrance heterozygous germline mutations in TNFAIP3 , which encodes the NF-κB regulatory protein A20, in six unrelated families with early-onset systemic inflammation. The disorder resembles Behçet's disease, which is typically considered a polygenic disorder with onset in early adulthood 2 . A20 is a potent inhibitor of the NF-κB signaling pathway 3 . Mutant, truncated A20 proteins are likely to act through haploinsufficiency because they do not exert a dominant-negative effect in overexpression experiments. Patient-derived cells show increased degradation of IκBα and nuclear translocation of the NF-κB p65 subunit together with increased expression of NF-κB–mediated proinflammatory cytokines. A20 restricts NF-κB signals via its deubiquitinase activity. In cells expressing mutant A20 protein, there is defective removal of Lys63-linked ubiquitin from TRAF6, NEMO and RIP1 after stimulation with tumor necrosis factor (TNF). NF-κB–dependent proinflammatory cytokines are potential therapeutic targets for the patients with this disease. Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity. Herein we describe a new disease caused by high-penetrance heterozygous germline mutations in TNFAIP3, which encodes the NF- Kappa B regulatory protein A20, in six unrelated families with early-onset systemic inflammation. The disorder resembles Behcet's disease, which is typically considered a polygenic disorder with onset in early adulthood. A20 is a potent inhibitor of the NF- Kappa B signaling pathway. Mutant, truncated A20 proteins are likely to act through haploinsufficiency because they do not exert a dominant-negative effect in overexpression experiments. Patient-derived cells show increased degradation of I Kappa B alpha and nuclear translocation of the NF- Kappa B p65 subunit together with increased expression of NF- Kappa B-mediated proinflammatory cytokines. A20 restricts NF- Kappa B signals via its deubiquitinase activity. In cells expressing mutant A20 protein, there is defective removal of Lys63-linked ubiquitin from TRAF6, NEMO and RIP1 after stimulation with tumor necrosis factor (TNF). NF- Kappa B-dependent proinflammatory cytokines are potential therapeutic targets for the patients with this disease. |
| Audience | Academic |
| Author | Aksentijevich, Ivona Chen, Celeste Leavis, Helen L Gül, Ahmet van Royen-Kerkof, Annet P Hanson, Eric Ozen, Seza Wang, Hongying Tsai, Wanxia Li Batu, Ezgi D Mullikin, James C Stoffels, Monique Takeuchi, Masaki Barham, Beverly K Gadina, Massimo Yu, Xiaomin Chandrasekharappa, Settara C Jones, Anne Siegel, Richard M Boehm, Manfred Park, Yong Hwan Wertz, Ingrid E Chae, JaeJin Hoffmann, Patrycja Zhou, Qing Ouyang, Claudia Sibley, Cailin Yu, Zhen Ombrello, Amanda K Milner, Joshua D Hasni, Sarfaraz A Chin, David T Yang, Dan Schwartz, Daniella M Lyons, Jonathan J Demirkaya, Erkan Stone, Deborah L Zhang, Yuan Zaal, Kristien Kastner, Daniel L Laxer, Ronald M |
| Author_xml | – sequence: 1 givenname: Qing surname: Zhou fullname: Zhou, Qing organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 2 givenname: Hongying surname: Wang fullname: Wang, Hongying organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 3 givenname: Daniella M orcidid: 0000-0002-1660-8438 surname: Schwartz fullname: Schwartz, Daniella M organization: Molecular Immunology and Inflammation Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases – sequence: 4 givenname: Monique surname: Stoffels fullname: Stoffels, Monique organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 5 givenname: Yong Hwan surname: Park fullname: Park, Yong Hwan organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 6 givenname: Yuan surname: Zhang fullname: Zhang, Yuan organization: Genetics and Pathogenesis of Allergy Section, National Institute of Allergy and Infectious Diseases, Laboratory of Allergic Diseases – sequence: 7 givenname: Dan surname: Yang fullname: Yang, Dan organization: Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute – sequence: 8 givenname: Erkan surname: Demirkaya fullname: Demirkaya, Erkan organization: FMF Arthritis Vasculitis and Orphan Disease Research Center (FAVOR), Gulhane Military Medical Academy – sequence: 9 givenname: Masaki surname: Takeuchi fullname: Takeuchi, Masaki organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 10 givenname: Wanxia Li surname: Tsai fullname: Tsai, Wanxia Li organization: Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases – sequence: 11 givenname: Jonathan J surname: Lyons fullname: Lyons, Jonathan J organization: Genetics and Pathogenesis of Allergy Section, National Institute of Allergy and Infectious Diseases, Laboratory of Allergic Diseases – sequence: 12 givenname: Xiaomin surname: Yu fullname: Yu, Xiaomin organization: Genetics and Pathogenesis of Allergy Section, National Institute of Allergy and Infectious Diseases, Laboratory of Allergic Diseases – sequence: 13 givenname: Claudia surname: Ouyang fullname: Ouyang, Claudia organization: Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases – sequence: 14 givenname: Celeste surname: Chen fullname: Chen, Celeste organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 15 givenname: David T surname: Chin fullname: Chin, David T organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 16 givenname: Kristien surname: Zaal fullname: Zaal, Kristien organization: Light Imaging Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases – sequence: 17 givenname: Settara C surname: Chandrasekharappa fullname: Chandrasekharappa, Settara C organization: Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute – sequence: 18 givenname: Eric surname: P Hanson fullname: P Hanson, Eric organization: Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases – sequence: 19 givenname: Zhen surname: Yu fullname: Yu, Zhen organization: Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute – sequence: 20 givenname: James C surname: Mullikin fullname: Mullikin, James C organization: National Institute of Health Intramural Sequencing Center, National Human Genome Research Institute – sequence: 21 givenname: Sarfaraz A surname: Hasni fullname: Hasni, Sarfaraz A organization: Systemic Autoimmune Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases – sequence: 22 givenname: Ingrid E surname: Wertz fullname: Wertz, Ingrid E organization: Department of Molecular Oncology, Genentech, Inc – sequence: 23 givenname: Amanda K surname: Ombrello fullname: Ombrello, Amanda K organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 24 givenname: Deborah L surname: Stone fullname: Stone, Deborah L organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 25 givenname: Patrycja surname: Hoffmann fullname: Hoffmann, Patrycja organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 26 givenname: Anne surname: Jones fullname: Jones, Anne organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 27 givenname: Beverly K surname: Barham fullname: Barham, Beverly K organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 28 givenname: Helen L surname: Leavis fullname: Leavis, Helen L organization: Department of Medical Microbiology, University Medical Center Utrecht – sequence: 29 givenname: Annet surname: van Royen-Kerkof fullname: van Royen-Kerkof, Annet organization: Department of Pediatric Immunology, University Medical Center Utrecht – sequence: 30 givenname: Cailin surname: Sibley fullname: Sibley, Cailin organization: Division of Arthritis and Rheumatic Diseases, Oregon Health and Science University – sequence: 31 givenname: Ezgi D surname: Batu fullname: Batu, Ezgi D organization: Department of Pediatric Rheumatology, Hacettepe University – sequence: 32 givenname: Ahmet surname: Gül fullname: Gül, Ahmet organization: Department of Internal Medicine, Istanbul University – sequence: 33 givenname: Richard M surname: Siegel fullname: Siegel, Richard M organization: Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases – sequence: 34 givenname: Manfred surname: Boehm fullname: Boehm, Manfred organization: Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute – sequence: 35 givenname: Joshua D surname: Milner fullname: Milner, Joshua D organization: Genetics and Pathogenesis of Allergy Section, National Institute of Allergy and Infectious Diseases, Laboratory of Allergic Diseases – sequence: 36 givenname: Seza surname: Ozen fullname: Ozen, Seza organization: Department of Pediatric Rheumatology, Hacettepe University – sequence: 37 givenname: Massimo surname: Gadina fullname: Gadina, Massimo organization: Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases – sequence: 38 givenname: JaeJin surname: Chae fullname: Chae, JaeJin organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 39 givenname: Ronald M surname: Laxer fullname: Laxer, Ronald M organization: Division of Rheumatology, The Hospital for Sick Children, University of Toronto – sequence: 40 givenname: Daniel L surname: Kastner fullname: Kastner, Daniel L organization: Inflammatory Disease Section, National Human Genome Research Institute – sequence: 41 givenname: Ivona surname: Aksentijevich fullname: Aksentijevich, Ivona email: aksentii@mail.nih.gov organization: Inflammatory Disease Section, National Human Genome Research Institute |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26642243$$D View this record in MEDLINE/PubMed |
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| Snippet | Ivona Aksentijevich and colleagues identify heterozygous loss-of-function mutations in
TNFAIP3
(encoding A20) in six unrelated families with early-onset... Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity. Herein we describe a new disease caused by high-penetrance... Ivona Aksentijevich and colleagues identify heterozygous loss-of-function mutations in TNFAIP3 (encoding A20) in six unrelated families with early-onset... |
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| Title | Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease |
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