Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

BACKGROUND: Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders. METHODS: We analyzed peripheral-blood exome sequence data independent of clinical phenot...

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Gepubliceerd in:N Engl J Med
Hoofdauteurs: Beck, David B., Ferrada, Marcela A., Sikora, Keith A., Ombrello, Amanda K., Collins, Jason C., Pei, Wuhong, Balanda, Nicholas, Ross, Daron L., Cardona, Daniela Ospina, Wu, Zhijie, Patel, Bhavisha, Manthiram, Kalpana, Groarke, Emma M., Gutierrez-Rodrigues, Fernanda, Hoffmann, Patrycja, Rosenzweig, Sofia, Nakabo, Shuichiro, Dillon, Laura W., Hourigan, Christopher S., Tsai, Wanxia L., Gupta, Sarthak, Carmona-Rivera, Carmelo, Asmar, Anthony J., Xu, Lisha, Oda, Hirotsugu, Goodspeed, Wendy, Barron, Karyl S., Nehrebecky, Michele, Jones, Anne, Laird, Ryan S., Deuitch, Natalie, Rowczenio, Dorota, Rominger, Emily, Wells, Kristina V., Lee, Chyi-Chia R., Wang, Weixin, Trick, Megan, Mullikin, James, Wigerblad, Gustaf, Brooks, Stephen, Dell’Orso, Stefania, Deng, Zuoming, Chae, Jae J., Dulau-Florea, Alina, Malicdan, May C.V., Novacic, Danica, Colbert, Robert A., Kaplan, Mariana J., Gadina, Massimo, Savic, Sinisa, Lachmann, Helen J., Abu-Asab, Mones, Solomon, Benjamin D., Retterer, Kyle, Gahl, William A., Burgess, Shawn M., Aksentijevich, Ivona, Young, Neal S., Calvo, Katherine R., Werner, Achim, Kastner, Daniel L., Grayson, Peter C.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2020
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7847551/
https://ncbi.nlm.nih.gov/pubmed/33108101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa2026834
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