I saw a diagnosis today: VEXAS syndrome.
A new one on me – it is an adult-onset, severe autoinflammatory and blood
disorder caused by a random, acquired mutation in the UBA1 gene. It primarily
affects men over fifty. The name is an acronym outlining its core
characteristics:
· Vacuoles in bone marrow cells
· E1
enzyme malfunction
· X-linked
genetic origin
· Autoinflammation
(immune system attacking healthy tissue)
· Somatic mutation (not inherited)
Here’s a link about it.
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