Article

A high-throughput amplicon screen for somatic <i>UBA1</i> variants in Cytopenic and Giant Cell Arteritis cohorts

2021-12-08

Abstract excerpt

Somatic mutations in the gene encoding the major E1 ubiquitin ligase, UBA1, were recently identified as a cause of VEXAS, a late-onset acquired auto-inflammatory syndrome. Differential diagnoses for patients subsequently found to have VEXAS include relapsing polychondritis, Sweet’s syndrome, myelodysplastic syndrome (MDS), giant cell arteritis (GCA) and undifferentiated systemic autoinflammatory disease (uSAID). W...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7450690f-77ff-5c55-8efb-561336bc2818
DOI: 10.1101/2021.12.08.21266919

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A high-throughput amplicon screen for somatic <i>UBA1</i> variants in Cytopenic and Giant Cell Arteritis cohortsDOI 10.1101/2021.12.08.21266919Read

Myelodysplasia and Bone Marrow Manifestations of Somatic UBA1 Mutated Autoinflammatory DiseaseSemantic proximity Read

A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis CohortsSemantic proximity Read

Rapid growth of acquired UBA1 mutations predisposes male patients to low-risk MDSSemantic proximity Read

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

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

Systemic inflammation with myelodysplastic features: VEXAS syndrome.Semantic proximity Read

An update on VEXAS syndrome.Semantic proximity Read

VEXAS syndrome: a diagnostic puzzle.Semantic proximity Read

VEXAS syndrome.Semantic proximity Read

Spectrum of clonal hematopoiesis in VEXAS syndrome.Semantic proximity Read

Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.Semantic proximity Read