Article
Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.
European journal of neurology - 1 Jan 2024
Verschoof Merelijne A, van Meenen Laura C C, Andriessen M Valérie E, Brinkman Daniëlle M C, Kamphuis Sylvia, Kuijpers Taco W, Leavis Helen L, Legger G Elizabeth, Mulders-Manders Catharina M, de Pagter Anne P J, Rutgers Abraham, van Well Gijs T J, Coutinho Jonathan M, Hak A Elisabeth, van Montfrans Joris M, Klouwer Femke C C
Abstract excerpt
BACKGROUND AND PURPOSE: Patients with adenosine deaminase 2 (ADA2) deficiency can present with various neurological manifestations due to vasculopathies and autoinflammation. These include ischaemic and hemorrhagic stroke, but less clearly defined neurological symptoms have also been reported. METHODS: In this cohort study, patients with confirmed ADA2 deficiency from seven university hospitals in the Netherlands...
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