Deficiency of adenosine deaminase 2 in paediatric patients: a case series from Ireland.
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BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is a rare, autosomal recessive autoinflammatory disorder characterised by vasculopathy, immune dysregulation, and haematological abnormalities. Diagnostic delay remains common because of phenotypic heterogeneity and overlap with other paediatric conditions. CASE PRESENTATION: We report four paediatric patients diagnosed with DADA2 at a tertiary centre in Ireland between 2020 and 2024. This case series included three males and one female, aged 3-12 years at diagnosis. Clinical phenotypes ranged from severe multisystem disease with transfusion-dependent anaemia to minimally symptomatic disease detected through family screening. Initial misdiagnoses included Diamond-Blackfan anaemia (DBA), atypical systemic lupus erythematosus (SLE), Polyarteritis Nodosa (PAN) and IgA vasculitis (Formerly known as Henoch-Schönlein purpura). Diagnostic intervals ranged from 3 months to 12 years. RESULTS: All patients received tumour necrosis factor (TNF) inhibitors. Two patients remained clinically well on adalimumab. One patient developed anti-drug antibodies, necessitating a change in treatment. One patient with refractory haematological manifestations underwent haematopoietic stem cell transplantation (HSCT), achieving complete donor chimerism and transfusion independence. Siblings with identical homozygous variants exhibited markedly different clinical phenotypes. CONCLUSION: This case series demonstrates the diagnostic challenges and clinical heterogeneity of DADA2. Key lessons include the importance of diagnostic reconsideration when clinical trajectories deviate from expectations, recognition of classical vasculitic features, effective communication, and systematic family screening enabling early intervention.