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Article

Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series.

European journal of medical genetics - 1 Aug 2022

Kisla Ekinci Rabia Miray, Anlas Ozlem, Ozalp Ozge

Abstract excerpt

Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic inflammatory disease, caused by mutations in ADA2 gene, which encodes an extracellular enzyme acting as a monocyte differentiation factor. DADA2 is first described with the clinical picture resembling polyarteritis nodosa, including livedo racemose, recurrent fever, musculoskeletal complaints. Besides, some patients have cytopenia, lymphoproliferation and...

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Identifiers

PMID: 35777620
DOI: 10.1016/j.ejmg.2022.104555

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