BMJ Case Rep. 2026 Apr 29;19(4):e272910. doi: 10.1136/bcr-2026-272910.
ABSTRACT
Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory vasculopathy characterised by systemic vasculitis, immune dysregulation and haematological abnormalities. We report a man in his 30s who presented with recurrent ischaemic strokes, cytopenias, renal microaneurysms, cardiomyopathy and gastrointestinal involvement. He was initially diagnosed with polyarteritis nodosa and treated with conventional immunosuppression, with poor clinical response. Genetic testing confirmed DADA2, following which infliximab therapy was initiated, resulting in clinical stabilisation and improvement in inflammatory and haematological parameters, with stabilisation of cardiac function. This case highlights the importance of early genetic diagnosis and timely initiation of tumour necrosis factor inhibitor therapy to prevent irreversible organ damage.
PMID:42055761 | DOI:10.1136/bcr-2026-272910