Novel somatic mutations in UBA1 as a cause of VEXAS syndrome-Reference-Cited by-同舟云学术

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

Published:2021-03-09 Issue:26 Volume:137 Page:3676-3681
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Poulter James A.¹²^ORCID,Collins Jason C.³^ORCID,Cargo Catherine⁴,De Tute Ruth M.⁴,Evans Paul⁴,Ospina Cardona Daniela⁵,Bowen David T.⁶,Cunnington Joanna R.⁷,Baguley Elaine⁷,Quinn Mark⁸,Green Michael⁸,McGonagle Dennis¹⁹,Beck David B.⁵,Werner Achim³^ORCID,Savic Sinisa¹⁹^ORCID

Affiliation:

1. Leeds Institute of Rheumatic and Musculoskeletal Medicine and

2. Leeds Institute of Medical Research, University of Leeds, Leeds, United Kingdom;

3. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD;

4. Haematological Malignancy Diagnostic Service, St James’s University Hospital, Leeds, United Kingdom;

5. National Human Genome Research Institute, National Institutes of Health, Bethesda, MD;

6. Department of Haematology, Leeds Teaching Hospitals, Leeds, United Kingdom;

7. Department of Rheumatology, Hull University Teaching Hospitals, Hull, United Kingdom;

8. Department of Rheumatology, York Teaching Hospital NHS Foundation Trust, York, United Kingdom; and

9. National Institute for Health Research–Leeds Biomedical Research Centre, University of Leeds, Leeds, United Kingdom

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/137/26/3676/1811529/bloodbld2020010286.pdf

Reference7 articles.

1. Moving towards a systems-based classification of innate immune-mediated diseases;Savic;Nat Rev Rheumatol,2020

2. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease;Beck;N Engl J Med,2020

3. The mutational constraint spectrum quantified from variation in 141,456 humans [published correction appears in Nature. 2021;590(7846):E53.];Karczewski;Nature,2020

4. Systemic inflammatory and autoimmune manifestations associated with myelodysplastic syndromes and chronic myelomonocytic leukaemia: a French multicentre retrospective study;Mekinian;Rheumatology (Oxford),2016

5. Certain autoimmune manifestations are associated with distinctive karyotypes and outcomes in patients with myelodysplastic syndrome: a retrospective cohort study;Lee;Medicine (Baltimore),2016

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