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

Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity(1). Herein we describe a new syndrome caused by high penetrance heterozygous germline mutations in the NFκB regulatory protein TNFAIP3 (A20) in six unrelated families with early onset systemic inflammation. The s...

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Detalles Bibliográficos
Autores principales: 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, 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4777523/
https://www.ncbi.nlm.nih.gov/pubmed/26642243
http://dx.doi.org/10.1038/ng.3459

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