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Article

A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2

10 Oct 2019

Abstract excerpt

PURPOSE OF REVIEW: To recap the expanding clinical spectrum, genotype-phenotype associations and treatment options in the light of recently published articles regarding the deficiency of adenosine deaminase 2 (DADA2). RECENT FINDINGS: Whole-exome sequencing enabled novel clinical phenotypes associated with ADA2 mutations. Since its discovery, the phenotypic spectrum of DADA2 has substantially expanded to cover...

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PMID: 31599797
DOI: 10.1097/bor.0000000000000669

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