Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease

B. Beck, David; A. Ferrada, Marcela; A. Sikora, Keith; K. Ombrello, Amanda; C. Collins, Jason; Pei, Wuhong; Balanda, Nicholas; L. Ross, Daron; Ospina Cardona, Daniela; Wu, Zhijie; A. Patel, Bhavisha; Manthiram, Kalpana; M. Groarke, Emma; Gutierrez‐Rodrigues, Fernanda; Hoffmann, Patrycja; Rosenzweig, Sofia; Nakabo, Shuichiro; W. Dillon, Laura; S. Hourigan, Christopher; Li Tsai, Wanxia; Gupta, Sarthak; Carmona‐Rivera, Carmelo; J. Asmar, Anthony; Xu, Lisha; Oda, Hirotsugu; Goodspeed, Wendy; S. Barron, Karyl; Nehrebecky, Michele; Jones, Anne; S. Laird, Ryan; Deuitch, Natalie; Rowczenio, Dorota; Rominger, Emily; V Wells, Kristina; Richard Lee, Chyi‐Chia; Wang, Weixin; Trick, Megan; C. Mullikin, James; Wigerblad, Gustaf; R. Brooks, Stephen; Dell’Orso, Stefania; Deng, Zuoming; Jin Chae, Jae; Dulau‐Florea, Alina; Christine V. Malicdan, May; Novacic, Danica; A. Colbert, Robert; J. Kaplan, Mariana; Gadina, Massimo; Savic, Sinisa; J. Lachmann, Helen; Abu‐Asab, Mones; D. Solomon, Benjamin; Retterer, Kyle; A. Gahl, William; M. Burgess, Shawn; Aksentijevich, Ivona; S. Young, Neal; R. Calvo, Katherine; Werner, Achim; L. Kastner, Daniel; C. Grayson, Peter

doi:10.1056/nejmoa2026834

Public

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

Published in New England Journal of Medicine • Oct 27, 2020

Authors:

David B. Beck

Marcela A. Ferrada

Keith A. Sikora

Abstract

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...

Subject

Medicine

Immunology

Bone marrow

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