Article
Spectrum of clonal hematopoiesis in VEXAS syndrome.
Blood - 20 Jul 2023
Gutierrez-Rodrigues Fernanda, Kusne Yael, Fernandez Jenna, Lasho Terra, Shalhoub Ruba, Ma Xiaoyang, Alessi Hugh, Finke Christy, Koster Matthew J, Mangaonkar Abhishek, Warrington Kenneth J, Begna Kebede, Xie Zhuoer, Ombrello Amanda K, Viswanatha David, Ferrada Marcela, Wilson Lorena, Go Ronald, Kourelis Taxiarchis, Reichard Kaaren, Olteanu Horatiu, Darden Ivana, Hironaka Dalton, Alemu Lemlem, Kajigaya Sachiko, Rosenzweig Sofia, Calado Rodrigo T, Groarke Emma M, Kastner Daniel L, Calvo Katherine R, Wu Colin O, Grayson Peter C, Young Neal S, Beck David B, Patel Bhavisha A, Patnaik Mrinal M
Abstract excerpt
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by somatic mutations in UBA1 (UBA1mut) and characterized by heterogenous systemic autoinflammation and progressive hematologic manifestations, meeting criteria for myelodysplastic syndrome (MDS) and plasma cell dyscrasias. The landscape of myeloid-related gene mutations leading to typical clonal hematopoiesis (CH) in these...
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