Al-Hakim, A and Savic, S orcid.org/0000-0001-7910-0554 (2023) An update on VEXAS syndrome. Expert Review of Clinical Immunology, 19 (2). pp. 203-215. ISSN 1744-666X
Abstract
Introduction
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations in the UBA1 gene. The various clinical manifestations of VEXAS broadly divided into inflammatory or haematological. VEXAS defines a new disease category – the hematoinflammatory disorders triggered by somatic mutations restricted to blood but causing systemic inflammation with multi-organ involvement and associated with aberrant bone marrow status. VEXAS causes significant morbidity and reduced life expectancy, but the optimum standard of care remains undefined
Areas covered
This review describes the discovery of VEXAS, relevant genetic causes and immunopathology of the disease. A detailed account of its various clinical manifestations and disease mimics is provided. Current treatment and management options are discussed.
Expert opinion
New rare variants in UBA1 and VEXAS-like UBA1 negative cases are reported. Consensus diagnostic criteria might be required to define VEXAS and its related disorders. Investigation of sporadic, VEXAS-like cases will require the application of deep sequencing using DNA obtained from various cellular or tissue locations. Prospective studies are needed to define the optimal supportive and treatment options for patients with varying disease severity and prognosis. VEXAS-specific hematopoietic stem cell transplant selection criteria also require development.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2022 The Author(s). This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited, and is not altered, transformed, or built upon in any way. |
Keywords: | Anti-IL1; anti-IL6; corticosteroids; E1 ubiquitin ligase; hematoinflammatory diseases; hematopoietic stem cell transplant; JAK inhibitor; macrocytic anaemia; myelodysplastic syndrome; sweets syndrome; relapsing polychondritis; venous thromboembolism; VEXAS; UBA1 |
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: | 14 Jun 2023 14:40 |
Last Modified: | 14 Jun 2023 14:40 |
Status: | Published |
Publisher: | Taylor & Francis |
Identification Number: | 10.1080/1744666x.2023.2157262 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:199993 |