Publications by authors named "Hiroyuki Teruya"
Rheumatology (Oxford)
August 2024
Article Synopsis
- This study aimed to improve the detection of somatic UBA1 variants in patients suspected of having VEXAS syndrome and to create a scoring system to identify those with pathogenic variants.
- Researchers analyzed 89 Japanese patients (mostly male, median age 69.3 years) using advanced genetic techniques such as PNA-PCR and deep sequencing to screen for UBA1 variants.
- They found that 44.9% of patients had pathogenic variants, and their scoring system, which included factors like age and specific symptoms, effectively predicted the presence of these variants with a high accuracy (AUC of 0.908).
