A 68-year old male presented with arthralgias and skin rashes. A complete blood count performed shows MCV of 80 fl and low platelet count. Peripheral smear and bone marrow images are shown. Which mutation is likely to be identified in this condition? #pathoboards #pathtweetorial 
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VEXAS Syndrome- mutations identified in UBA1 gene.
Some key features (images)
Some key features (images)
Which pathway is the UBA1 gene involved in
The UBA1 gene provides instructions for making the ubiquitin-activating enzyme E1. This enzyme is necessary for the ubiquitin-proteasome system, which targets damaged or unneeded proteins to be broken down within cells. The UBA1 gene is located in the chromosome band Xp11. 23.
Which other condition can be associated with extensive vacuolation of bonemarrow erythroid and myeloid precursors?
Some other conditions associated with bone marrow vacuolation are. MDS, COPPER DEFICIENCY, SIDEROBLASTIC ANEMIA.
Comment if there are any more.
Comment if there are any more.
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