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Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.

Clinical rheumatology - 1 Oct 2021

Pinto Benzeeta, Deo Prateek, Sharma Susmita, Syal Arshi, Sharma Aman

Abstract excerpt

Deficiency of adenosine deaminase 2 (DADA2) is a monogenic disease caused by biallelic mutations in ADA2 gene (previously CECR1). The aim of this review was to describe the clinical phenotypes, genetics, pathogenesis and treatment of DADA2. ADA2 is highly expressed on myeloid cells and deficiency leads to polarisation of macrophages to an M1 inflammatory type and activation of neutrophils. The pathogenesis of...

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PMID: 33791889
DOI: 10.1007/s10067-021-05711-w

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