A rapid, accessible real-time PCR approach to identify UBA1 somatic mutations in VEXAS syndrome
By
Luisa Agnello
Caterina Maria Gambino
Lidia La Barbera
Anna Masucci
Roberta Vassallo
Francesco Cacciabaudo
Mauro Midiri
Concetta Scazzone
Anna Maria Ciaccio
Giuliana Guggino
Marcello Ciaccio
May 28, 2026
Clinical Scorecard: A Quick and Accessible Real-Time PCR Method for Detecting UBA1 Somatic Mutations in VEXAS Syndrome
At a Glance
Category Detail
Condition VEXAS syndrome Key Mechanisms Somatic mutations in the X-linked UBA1 gene, primarily affecting codon 41. Target Population Adults, predominantly males over 50 years of age. Care Setting Clinical laboratories, particularly in rheumatology and molecular diagnostics.
Key Highlights
Real-time PCR assay identified UBA1 mutations in 83.3% of suspected VEXAS cases. 100% concordance between real-time PCR and Sanger sequencing. Rapid and cost-effective screening strategy for timely diagnosis. Guideline-Based Recommendations
Diagnosis
Utilize allele-specific real-time PCR for rapid detection of UBA1 mutations. Management
Genetic identification of VEXAS patients is essential for guiding management strategies. Monitoring & Follow-up
Real-time PCR can facilitate monitoring of variant allele frequencies during treatment. Risks
VEXAS syndrome is associated with significant morbidity and mortality, with reported mortality rates of 30–40%. Patient & Prescribing Data
Adults with high clinical suspicion of VEXAS syndrome.
Early molecular confirmation is critical for appropriate clinical management.
Clinical Best Practices
Implement rapid diagnostic methods to improve access to genetic testing. Consider real-time PCR for its high sensitivity and compatibility with standard laboratory equipment. Related Resources & Content
