Conditions / Syndrome
VEXAS syndrome
info · Syndrome
A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11.
Signs and symptoms
- Macrocytic anemia
- Recurrent fever
- Pulmonary infiltrates
- Chondritis of pinna
- Nasal chondritis
- Autoimmune antibody positivity
- Erythroid dysplasia
- Megakaryocyte dysplasia
- Inflammatory abnormality of the skin
- Arthritis
Also known as: vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome