Clinical and Laboratory Features of 16 Chinese VEXAS Syndrome Patients

16 male VEXAS syndrome patients were identified from a retrospective analysis of 4,512 consecutive patients with hematologic abnormalities at a Chinese academic hospital between June 2023 and July 2024. The data, authored by Xiang Ren and published on figshare, includes patient profiles, laboratory findings, UBA1 mutation status, and treatment responses. Canonical UBA1 pathogenic variants were detected in 81.3% of the patients, with p.M41V being the dominant mutation.

Use Cases

• Identify common clinical phenotypes of VEXAS syndrome based on described symptoms like anemia, lymphopenia, and multiorgan involvement.
• Analyze the prevalence and types of UBA1 gene mutations based on the reported canonical and infrequent variants.
• Study treatment response patterns based on the described use of corticosteroids, immunosuppressants, androgens, and erythropoiesis-stimulating agents.
• Investigate associations between bone marrow findings (e.g., hypercellularity, vacuoles) and other clinical or genetic features.

Strengths

• Includes detailed clinical and laboratory profiles for 16 confirmed VEXAS patients.
• Reports specific genetic findings, including a dominant mutation (p.M41V) present in 81.3% of cases.
• Data is derived from a screening cohort of 4,512 patients, providing context for case identification.

Limitations

• Row count and column-level documentation are unknown, which may limit suitability assessment.
• Data is from a single-center case series, which may reflect institutional biases.
• The dataset is small (94.1 KB), indicating limited scope and sample size.

Provenance

Source

figshare, authored by Xiang Ren.

Collection Method

Retrospective analysis of patient records at a Chinese academic hospital.

Time Range

Patient data collected between June 2023 and July 2024.

Freshness

Last updated 2026-04-16 05:19:13; freshness should be verified.

Geography

China (single-center study).