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Article

Systemic inflammation with myelodysplastic features: VEXAS syndrome.

BMJ case reports - 13 May 2026

Khamis Mohamed M, Bhatti Iqra M, Busayavalasa Deepthi

Abstract excerpt

A man in his early 80s presented with transfusion-dependent macrocytic anaemia, steroid-responsive headaches and recurrent inflammatory flares. Broad infectious, autoimmune and haematological investigations were negative, yet symptoms relapsed each time prednisolone was tapered. The coexistence of refractory inflammation, giant cell arteritis-like features and progressive cytopenias prompted targeted sequencing,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42128440
DOI: 10.1136/bcr-2025-271503

Genes

UBA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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Systemic inflammation with myelodysplastic features: VEXAS syndrome.PMID 42128440Read ↗

Case report: diagnosis of VEXAS syndrome in a patient with therapy-resistant large vessel vasculitis.Semantic proximity Read ↗

VEXAS syndrome in adults: A narrative review of genomic pathogenesis, multisystem phenotypes, diagnostic algorithms, and emerging therapeutic strategies.Semantic proximity Read ↗

Clonal hematopoiesis meets an autoinflammatory disease: the new paradigm of VEXAS syndrome.Semantic proximity Read ↗

Looking beyond VEXAS: Coexistence of undifferentiated systemic autoinflammatory disease and myelodysplastic syndrome.Semantic proximity Read ↗

VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management.Semantic proximity Read ↗

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel.Semantic proximity Read ↗

Case report of a patient with VEXAS syndrome.Semantic proximity Read ↗

Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge.Semantic proximity Read ↗

How I diagnose and manage VEXAS syndrome.Semantic proximity Read ↗

Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients.Semantic proximity Read ↗

Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review.Semantic proximity Read ↗

VEXAS syndrome: a comprehensive review of pathogenesis, clinical spectrum, and therapeutic strategies.Semantic proximity Read ↗

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