Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease | Zendy

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

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Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

Author(s) -

David B. Beck,

Marcela A. Ferrada,

Keith A. Sikora,

Amanda K. Ombrello,

Jason C. Collins,

Wuhong Pei,

Nicholas Balanda,

Daron L. Ross,

Daniela Ospina Cardona,

Zhijie Wu,

Bhavisha A. Patel,

Kalpana Manthiram,

Emma M. Groarke,

Fernanda GutierrezRodrigues,

Patrycja Hoffmann,

Sofia Rosenzweig,

Shuichiro Nakabo,

Laura W. Dillon,

Christopher S. Hourigan,

Wanxia Li Tsai,

Sarthak Gupta,

Carmelo CarmonaRivera,

Anthony J. Asmar,

Lisha Xu,

Hirotsugu Oda,

Wendy Goodspeed,

Karyl S. Barron,

Michele Nehrebecky,

Anne Jones,

Ryan S. Laird,

Natalie Deuitch,

Dorota Rowczenio,

Emily Rominger,

Kristina V Wells,

ChyiChia Richard Lee,

Weixin Wang,

Megan Trick,

James C. Mullikin,

Gustaf Wigerblad,

Stephen R. Brooks,

Stefania Dell’Orso,

Zuoming Deng,

Jae Jin Chae,

Alina DulauFlorea,

May Christine V. Malicdan,

Danica Novacic,

Robert A. Colbert,

Mariana J. Kaplan,

Massimo Gadina,

Sinisa Savic,

Helen J. Lachmann,

Mones AbuAsab,

Benjamin D. Solomon,

Kyle Retterer,

William A. Gahl,

Shawn M. Burgess,

Ivona Aksentijevich,

Neal S. Young,

Katherine R. Calvo,

Achim Werner,

Daniel L. Kastner,

Peter C. Grayson

Publication year - 2020

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa2026834

Subject(s) - medicine , immunology , bone marrow , myeloid , biology , pathology

Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders.

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