Articles with "haematological manifestations" as a keyword



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

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Published in 2021 at "Clinical Rheumatology"

DOI: 10.1007/s10067-021-05711-w

Abstract: 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… read more here.

Keywords: haematological manifestations; treatment; disease; phenotypes genetics ... See more keywords