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Targeted testing of bone marrow specimens with cytoplasmic vacuolization to identify previously undiagnosed cases of VEXAS syndrome.

Rheumatology (Oxford, England) - 1 Dec 2023

Hines Alexander S, Koster Matthew J, Bock Allison R, Go Ronald S, Warrington Kenneth J, Olteanu Horatiu, Lasho Terra L, Patnaik Mrinal M, Reichard Kaaren K

Abstract excerpt

OBJECTIVE: To retrospectively identify patients with VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) among male patients with bone marrow vacuolization using a clinically applicable, targeted-screening approach. METHODS: Bone marrow reports from 1 May 2014 through 18 February 2022 were reviewed for documentation of cytoplasmic vacuolization. Patients with acute leukaemia,...

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PMID: 37228016
DOI: 10.1093/rheumatology/kead245

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