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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Nat Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2015
Aiheet:
Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4777523/
https://ncbi.nlm.nih.gov/pubmed/26642243
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3459
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia