Article

Case Report: Deficiency in Adenosine Deaminase 2 mimicking a childhood Polyarteritis Nodosa: A case report of two siblings with a novel mutation

2025-08-26

Abstract excerpt

<h4>Background: </h4> Polyarteritis Nodosa (PAN) is a systemic vasculitis with cutaneous, renal, cerebral and arterial manifestations. At an early age, it could be very similar to a Deficiency in Adenosine Deaminase 2(DADA2). This genetic autoinflammatory disease is caused by pathogenic variants of the Adenosine Deaminase 2 gene. We present the cases of two siblings with DADA2 misdiagnosed initially as Polyarterit...

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Literature Corpus work: 58650390-08d4-5241-9bdd-2021870616ca
DOI: 10.12688/f1000research.168351.1

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