Article
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.
Blood advances - 24 Aug 2021
Obiorah Ifeyinwa Emmanuela, Patel Bhavisha A, Groarke Emma M, Wang Weixin, Trick Megan, Ombrello Amanda K, Ferrada Marcela A, Wu Zhijie, Gutierrez-Rodrigues Fernanda, Lotter Jennifer, Wilson Lorena, Hoffmann Patrycja, Cardona Daniela Ospina, Patel Nisha, Dulau-Florea Alina, Kastner Daniel L, Grayson Peter C, Beck David B, Young Neal S, Calvo Katherine R
Abstract excerpt
Somatic mutations in UBA1 involving hematopoietic stem and myeloid cells have been reported in patients with the newly defined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Here, we report clinical hematologic manifestations and unique bone marrow (BM) features in 16 patients with VEXAS. All patients were male and had a history of severe autoinflammatory and rheumatologic...
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