Name: VEXAS syndrome | Acronym: VEXAS
Alt. names: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic, syndrome

Gene: UBA1 | MOI: Somatic | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 2020

Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza

OMIM: 301054

Orphanet: -

MONDO: -

DOID: -

ClinGen:

It is an adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death (summary by Beck et al., 2020) [OMIM]

Description of management option has not been reviewed yet.