Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review.

Modern rheumatology case reports - 7 Jan 2022

Shaukat Farah, Hart Melissa, Burns Timothy, Bansal Pankaj

Abstract excerpt

Vacuoles, E1 enzyme, X linked, autoinflammatory, somatic (VEXAS) syndrome is a recently described X-linked autoinflammatory condition associated with somatic mutation of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene. It often coexists with myelodysplastic syndrome, which can occur due to DNA (cytosine-5)-methyltransferase 3A (DNMT3A) mutation. These patients, predominantly males, present after the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone Marrow
Share to DNA Methyltransferase 3A
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hereditary Autoinflammatory Diseases

Share to Mutation

Share to Otitis Media and Relapsing Polychondritis

Share to Ubiquitin-Activating Enzymes

Share to Vascular Anomalies and Treatments

Source

Identifiers

PMID: 34480172
DOI: 10.1093/mrcr/rxab021

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review.PMID 34480172Read ↗

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

VEXAS syndrome in myelodysplastic syndrome with autoimmune disorderSemantic proximity Read ↗

Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome.Semantic proximity Read ↗

VEXAS Syndrome Beyond UBA1: Genetic Architecture and the Role of Co-Occurring Somatic Mutations-A Focused Review.Semantic proximity Read ↗

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

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

VEXAS-Syndrome, a newly described autoinflammatory systemic disease with dermatologic manifestations.Semantic proximity Read ↗

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

VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases.Semantic proximity Read ↗

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

An update on VEXAS syndrome.Semantic proximity Read ↗

Successful azacitidine therapy for myelodysplastic syndrome associated with VEXAS syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.