Article
A clinical, histopathological, and molecular study of two cases of VEXAS syndrome without a definitive myeloid neoplasm.
Blood advances - 25 Jan 2022
Li Peng, Venkatachalam Shobi, Ospina Cordona Daniela, Wilson Lorena, Kovacsovics Tibor, Moser Karen A, Miles Rodney R, Beck David B, George Tracy, Tantravahi Srinivas K
Abstract excerpt
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is caused by somatic mutations in UBA1 and is identified by a genotype-driven method. This condition affects unrelated men with adultonset inflammatory syndromes in association with hematologic manifestations of peripheral cytopenia and bone marrow myeloid dysplasia. Although bone marrow vacuolization restricted to myeloid and erythroid...
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