VEXAS Syndrome: A Case Series From a Single-Center Cohort of Italian Patients With Vasculitis.

ABSTRACT:

Objective

To identify patients with VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) from a single-center cohort of Italian patients with vasculitis, using a clinically oriented phenotype-first approach.

Methods

We retrospectively reviewed the clinical records of 147 consecutive male patients followed up in our vasculitis clinic from 2013 to date. All patients with a diagnosis of vasculitis and treatment-resistant manifestations of inflammation, persistently elevated inflammation markers, and hematologic abnormalities were identified. Bone marrow aspirates were examined for the presence of vacuoles. Sequencing of ubiquitin-activating enzyme E1 (UBA-1) was performed using genomic DNA from peripheral blood leukocytes or bone marrow tissue.

SUBMITTER: Muratore F 

PROVIDER: S-EPMC8957507 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature