VEXAS syndrome
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.
MONDO:0019751
autoinflammatory syndrome
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
VEXAS
exact
VEXAS syndrome, somatic
exact
vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome
exact
SPBC1604.21c