VEXAS Syndrome: Clinical and Genetic Characteristics of 40 Spanish Patients

A Spanish multicenter study analyzed 40 male patients with VEXAS syndrome, a rare autoinflammatory disorder caused by somatic UBA1 mutations. The retrospective study, conducted by the Grupo Español de Síndromes Mielodisplásicos (GESMD), details clinical features, 58 administered treatment lines, and prognostic associations. The dataset was last updated in April 2026.

Use Cases

• Analyzing the association between specific UBA1 mutations and clinical phenotypes based on the reported c.209T>A variant.
• Evaluating treatment efficacy and response rates for corticosteroids, JAK inhibitors, and hypomethylating agents based on the 58 administered lines.
• Investigating prognostic factors such as gastrointestinal involvement and treatment response based on the reported survival correlations.

Strengths

• Includes data from 40 patients, providing a detailed cohort for a rare disease.
• Reports on 58 distinct treatment lines, allowing analysis of therapeutic trajectories.
• Contains specific genetic findings, such as the presence of UBA1 mutations in all patients and analysis of the c.209T>A variant.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The study's authors note findings should be validated in larger cohorts, indicating limited generalizability.

Provenance

Source

Grupo Español de Síndromes Mielodisplásicos (GESMD)

Collection Method

Retrospective multicenter study.

Freshness

Last updated 2026-04-29 05:57:56; freshness should be verified.

Geography

Spain