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

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 Diamond–Blackfan anaemia, cytopenia...