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VEXAS syndrome is an adult-onset autoinflammatory disease primarily affecting males, caused by a somatic mutation vaxa ögonbryn kurs the UBA1 gene in hematopoietic progenitor cells. The disease arises in late adulthood typically after the age of 50 and causes both autoinflammatory and hematologic symptoms. Other autoinflammatory conditions that can occur in individuals with VEXAS syndrome include periorbital angioedemauveitis and scleritisrelapsing polychondritisand polyarteritis nodosa.
Inflammation may also affect the lungs. Hematologic issues include macrocytic anemiaa low platelet countand a predisposition towards developing hematologic malignanciesespecially myelodysplastic syndrome. On bone marrow examinationpeople with the disease exhibit abnormal vacuoles in precursor cells of the myeloid and erythroid lineages.
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VEXAS syndrome becomes more severe over time and carries a high mortality rate. Symptoms can be managed with high-dose corticosteroid therapy, but this can cause serious adverse effectsvaxa ögonbryn kurs symptoms typically recur after the dosage is lowered. For this reason, a variety of alternative treatments were under investigation as of [update]. The syndrome was identified by a multidisciplinary team of clinicians and scientists led by David B.
BeckPeter Grayson, and Daniel L. An editorial in the same issue describes the work as a "fascinating discovery" which "is of immediate importance to rheumatologists and has far-reaching consequences of general clinical interest. It builds on previous findings suggesting that postzygotic somatic mutation may be a more frequent cause of human disease than previously recognized".
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Since VEXAS was first described inthere has been global interest in understanding the disease. In the National Cancer Institute announced a three-year clinical trial to evaluate stem cell transplant as a possible treatment for patients with VEXAS. Contents move to sidebar hide. Article Talk. Read Edit View history. Tools Tools. Download as PDF Printable version. In other projects. Wikidata item.
Auto-inflammatory syndrome.
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Signs and symptoms [ edit ]. Treatment [ edit ]. History and discovery [ edit ]. Investigations [ edit ]. References [ edit ].
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Nature Reviews Rheumatology. ISSN PMID S2CID Archived from the original on 10 November Retrieved 17 November NBC News. NIH Research Matters. National Institutes of Health. Archived from the original on 1 December Retrieved 27 November The Rheumatologist. Archived from the original on 19 December Retrieved 16 December National Human Genome Research Institute.
Archived from the original on 5 November