VEXAS syndrome
Name: |
VEXAS syndrome
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Description: |
A rare autoinflammatory syndrome characterized by adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis, and arthralgia. Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11.
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ORPHAcode: |
596753
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XREF(s): | |
Analyte(s): | |
Created: |
17 May 2022 - 02:46
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Changed: |
22 Jun 2023 - 16:14
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