Article
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.
Nature genetics - 1 Jan 2016
Zhou Qing, Wang Hongying, Schwartz Daniella M, Stoffels Monique, Park Yong Hwan, Zhang Yuan, Yang Dan, Demirkaya Erkan, Takeuchi Masaki, Tsai Wanxia Li, Lyons Jonathan J, Yu Xiaomin, Ouyang Claudia, Chen Celeste, Chin David T, Zaal Kristien, Chandrasekharappa Settara C, Hanson Eric P, Yu Zhen, Mullikin James C, Hasni Sarfaraz A, Wertz Ingrid E, Ombrello Amanda K, Stone Deborah L, Hoffmann Patrycja, Jones Anne, Barham Beverly K, Leavis Helen L, van Royen-Kerkof Annet, Sibley Cailin, Batu Ezgi D, Gül Ahmet, Siegel Richard M, Boehm Manfred, Milner Joshua D, Ozen Seza, Gadina Massimo, Chae JaeJin, Laxer Ronald M, Kastner Daniel L, Aksentijevich Ivona
Abstract excerpt
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...
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