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
0 min

Frontiers In Medicine

Objective:

To validate a rapid, accessible allele-specific real-time PCR assay for detection of the most frequent UBA1 hotspot mutations associated with VEXAS syndrome.

Key Findings:

Allele-specific real-time PCR identified UBA1 mutations in 5 out of 6 (83.3%) suspected VEXAS cases.
Sanger sequencing confirmed all real-time PCR–positive results, demonstrating 100% concordance between methods.

Interpretation:

The allele-specific real-time PCR assay enables rapid and reliable detection of common UBA1 mutations associated with VEXAS syndrome, providing a practical screening strategy for timely diagnosis.

Limitations:

The study was conducted at a single center with a small sample size.

Conclusion:

The allele-specific real-time PCR assay is a cost-effective and efficient method for detecting UBA1 mutations, supporting timely diagnosis in patients with high clinical suspicion of VEXAS syndrome.

A rapid, accessible real-time PCR approach to identify UBA1 somatic mutations in VEXAS syndrome

Objective:

Key Findings:

Interpretation:

Limitations:

Conclusion:

Original Source(s)

A rapid, accessible real-time PCR approach to identify UBA1 somatic mutations in VEXAS syndrome

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