Autoinflammatory & rare systemic diseases
Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism
Authors' conclusion
Thirty patients with adult-onset AID were definitively diagnosed with VEXAS syndrome through genetic analyses. Despite minor interindividual differences, their main characteristics were in concordance with previous reports. We detected for the first time the UBA1 mosaicism in non-haematopoietic tissue, which questions the previous concept of myeloid-restricted mosaicism and may have conceptual consequences for the disease mechanisms.
Study context
- Population
- Patients with adult-onset undiagnosed autoinflammatory disease, Spain30 with UBA1 variants
- Participants
- 42 patients
- Outcome
- Presence of VEXAS syndrome (UBA1 pathogenic variants)
Methodological detailsgenetic analyses by Sanger and amplicon-based deep sequencing
- Genetic analyses by Sanger and amplicon-based deep sequencing
Main finding
As reported in the abstract
- Patients carrying UBA1 pathogenic variants, frequencies compatible with postzygotic variants
- 30
Observational data: associations, not effects.
Further findings
Clinical features of VEXAS patients
- Male
- All
- Age at onset, mean (years)
- 67.5
- Age at onset, median (years)
- 67.0
- Cutaneous lesions
- 90%
- Fever
- 66.7%
- Pulmonary manifestations
- 66.7%
- Arthritis
- 53.3%
- Macrocytic anaemia and increased ESR and ferritin were the most relevant analytical abnormalities
Treatment response
- GC ameliorated inflammatory manifestations, but most patients became GC-dependent
- Positive responses with decitabine or allogeneic haematopoietic stem cell transplantation
UBA1 mosaicism and circulating cytokines
- UBA1 variants detected in both haematopoietic and non-haematopoietic tissues
- Circulating cytokines did not identify inflammatory mediators of the disease
Original publication
Composed by AI from the published abstract and checked against it. How Briefs are made →