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VEXAS syndrome is a newly described autoinflammatory disease associated with UBA1 somatic mutations and vacuolization of myeloid precursors. This disease possesses an increasingly broad spectrum, leading to an increase in the number of suspected cases. Its diagnosis via bone-marrow aspiration and UBA1 -gene sequencing is time-consuming and expensive. This study aimed at analyzing peripheral leukocytes using deep learning approaches to predict VEXAS syndrome in comparison to differential diagnoses.

Accurate stratification between VEXAS syndrome and differential diagnoses by deep learning analysis of peripheral blood smears