Poulter, JA orcid.org/0000-0003-2048-5693 and Savic, S orcid.org/0000-0001-7910-0554 (2021) Genetics of somatic auto-inflammatory disorders. Seminars in Hematology, 58 (4). pp. 212-217. ISSN 0037-1963
Abstract
Systemic autoinflammatory disorders (SAIDs) encompass a heterogeneous group of monogenic disorders characterised by recurrent episodes of systemic and organ-specific inflammation. Genetic studies have facilitated the identification of Mendelian forms of SAIDs but many patients still remain without a diagnosis. Recent studies have uncovered that somatic (acquired) mutations can cause later-onset SAIDs. In this review, we will discuss the current knowledge surrounding the genetics of these acquired auto-inflammatory disorders (AAIDs), with a focus on VEXAS, NLRP3-associated AAIDs and Schnitzler's syndrome and provide suggestions for future research in this field.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2021 Elsevier Inc. All rights reserved. This is an author produced version of an article published in Seminars in Hematology. Uploaded in accordance with the publisher's self-archiving policy. |
Keywords: | VEXAS; UBA1; NLRP3; Auto-Inflammatory Disease; SAID; Schnitzler's syndrome |
Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Institute of Rheumatology & Musculoskeletal Medicine (LIRMM) (Leeds) > Inflammatory Arthritis (Leeds) |
Depositing User: | Symplectic Publications |
Date Deposited: | 20 Oct 2021 15:26 |
Last Modified: | 09 Oct 2022 00:13 |
Status: | Published |
Publisher: | Elsevier |
Identification Number: | 10.1053/j.seminhematol.2021.10.001 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:179237 |
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