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

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/loss-of-function-mutations-in-tnfaip3-leading-to-a20-haploinsufficiency-cause-an/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Qing Zhou,Hongying Wang,Daniella M. Schwartz,Monique Stoffels,Yong Hwan Park,Yuan Zhang,Dan Yang,Erkan Demirkaya,Masaki Takeuchi,Wanxia Li Tsai,Jonathan J. Lyons,Xiaomin Yu,Claudia Ouyang,Celeste Chen,David T. Chin,Kristien J.M. Zaal,Settara C. Chandrasekharappa,Eric P. Hanson,Zhen Yu,James C. Mullikin,Sarfaraz Hasni,Ingrid E. Wertz,Amanda K. Ombrello,Deborah L. Stone,Patrycja Hoffmann,Anne Jones,Beverly Barham,Helen L. Leavis,Annet van Royen-Kerkof,Cailin H. Sibley,Ezgi Deniz Batu,Ahmet Gül,Richard M. Siegel,Manfred Boehm,Joshua D. Milner,Seza Özen,Massimo Gadina,JaeJin Chae,Ronald M. Laxer,Daniel L. Kastner,Ivona Aksentijevich |
| Citations | 640 |
| DOI | 10.1038/ng.3459 |
| Fields | Biochemistry, Genetics and Molecular Biology,Immunology and Microbiology |
| Open Access | true |
| OA Status | green |
| OA URL | http://hdl.handle.net/11655/14138 |
| OpenAlex ID | https://openalex.org/W2194309244 |
| PMID | 26642243 |
| Type | article |
| Year | 2015 |

## Paper authors

- [Masaki Takeuchi](https://scholariq.org/researchers/masaki-takeuchi/)

## Paper primary topic

- [NF-κB Signaling Pathways](https://scholariq.org/topics/nf-b-signaling-pathways/)

## Paper topics

- [NF-κB Signaling Pathways](https://scholariq.org/topics/nf-b-signaling-pathways/)
- [interferon and immune responses](https://scholariq.org/topics/interferon-and-immune-responses/)
- [Inflammasome and immune disorders](https://scholariq.org/topics/inflammasome-and-immune-disorders/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.