Publications by authors named "Clara Garcia Belando"
Objectives: To describe the clinical spectrum of VEXAS syndrome in patients managed by rheumatology units and analyze genotype-phenotype correlations.
Methods: A multicentre, cross-sectional, retrospective study was conducted across 126 Spanish hospitals. Patients with VEXAS syndrome diagnosed between December 2020 and January 2024 were included.
Article Synopsis
- VEXAS syndrome is an adult-onset autoinflammatory disease caused by postzygotic genetic variants, affecting males with symptoms like skin lesions, fever, and arthritis at a mean age of 67.5 years.
- In a study of 42 patients, 30 were identified with pathogenic genetic variants and showed varying degrees of glucocorticoid dependence for symptom management.
- The research revealed that these variants were present in both blood and non-blood tissues, challenging the previous understanding that these genetic changes were limited to myeloid (blood) cells.