has material basis in germline mutation in UBA1 autoinflammatory syndrome hereditary disorder of connective tissue VEXAS syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/vexas_syndrome vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome MEDGEN:1765785 UMLS:C5435753 VEXAS syndrome, somatic Orphanet:596753 DOID:0080828 GARD:0015001 OMIM:301054 MONDO:0026777 VEXAS NCIT:C181924 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.