ArticleEuropean journal of case reports in internal medicine2021
The VEXAS Syndrome: Uncontrolled Inflammation and Macrocytic Anaemia in a 77-Year-Old Male Patient.
Article in European journal of case reports in internal medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review.Rheumatology international · 2023Pooled it
- Is the combination of Myelodysplastic syndromes and pulmonary fibrosis accidental or inevitable?Multidisciplinary respiratory medicine · 2025Article
- Case Report: Diagnostic challenges in VEXAS syndrome with novel ultrastructural lung findings: IgG4-RD and vasculitis as relevant differential diagnoses.Frontiers in immunology · 2025Article
- Autoimmunity and Autoinflammation: Relapsing Polychondritis and VEXAS Syndrome Challenge.International journal of molecular sciences · 2024Review
- VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge.Journal of clinical medicine · 2024Article
- VEXAS Syndrome-Diagnostic Clues for the Dermatologist and Gaps in Our Current Understanding: A Narrative Review.JID innovations : skin science from molecules to population health · 2024Review
- VEXAS Syndrome-Review.Global medical genetics · 2023Review
- VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases.Internal and emergency medicine · 2023Review
- Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report.BMC rheumatology · 2022Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described X-linked autoinflammatory condition caused by a somatic mutation of the UBA1 gene and characterized by an evolving phenotype. This includes inflammatory processes such as recurrent fever, Sweet's syndrome of the skin, pulmonary fibrosis, relapsing polychondritis and venous thromboembolism. An important feature, present in almost all cases, is the development of a macrocytic anaemia with vacuolization of myeloid and erythroid precursors. Usually, these patients require high doses of steroids to control symptoms and respond poorly to disease-modifying drugs. We describe a new case of the VEXAS syndrome presenting with Sweet's syndrome which has now been followed for 6 years. LEARNING POINTS: An inflammatory syndrome with skin and pulmonary involvement in an elderly male patient with haematological abnormalities such as a macrocytic anaemia, myelodysplastic syndrome or venous thrombotic events should raise suspicion of the VEXAS syndrome.Close collaboration between rheumatologists and haematologists is important in diagnosing and managing this complex disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.