Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
ADA2 deficiency is caused by hypomorphic or amorphic mutations of the ADA2 gene. The age of onset varies widely and manifests with systemic vascultis, polyarteritis nodosa, and stroke. The clinical spectrum also includes hemorrhagic stroke, portal and arterial hypertension, hematologic abnormalities, and various forms of immun deficiency.
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