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ObjectiveTo characterize the clinical, laboratory, and imaging findings of ten patients with GATA2 deficiency who presented with early-onset ischemic stroke.MethodsA retrospective chart review was conducted on a 127-patient cohort enrolled in theNatural History Study of GATA2 Deficiency and Related Disordersprotocol at National Institutes of Health (NIH) between 2013 and 2021. All patients had a genetically confirmed GATA2 deficiency. Patients were included if they had evidence of an ischemic stroke through clinical evaluation and neuroimaging. Stroke diagnosis was confirmed through brain magnetic resonance imaging (MRI) and/or computed tomography (CT).ResultsTen patients between the ages of 15-38 (4 males and 6 females) were identified with at least one ischemic stroke, while six patients experienced recurrent strokes (7.9 % overall, 10/127). Stroke etiology varied and included small vessel (n=4), large vessel (n=1) cardioembolic (n=1), and undetermined (n=4). Nine patients had lupus anticoagulant and two patients had a history of recurrent deep vein thrombosis.DiscussionWe describe the clinical, laboratory and imaging findings of ten patents with GATA2 deficiency who suffered one or more ischemic strokes under the age of 40, suggesting a link between GATA2 deficiency and stroke. This report emphasizes the need for further research to understand this unique vulnerability within this patient population.Protocol:Natural History Study of GATA2 Deficiency and Related Disordersprotocol#07-I-033