Deficiency of Adenosine deaminase Type 2: An Unusual Clinical Presentation

Background:Adenosine deaminase 2(ADA2) deficiency was a systemic autoinflammatory disease characterised by systemic inflammation, vasculitis, early-onset stroke, cytopenias, and immunodeficiency.It is caused by a loss of function due to a mutation in the ADA2 gene and is inherited in an autosomal recessive pattern.Due to its ability to cause early-onset stroke, its vasculitis-like clinical manifestations, and its correlation with immunodeficiency, it is a disease that is difficult to diagnose and treat.Case presentation:In this report, we present a case of a 14-year-old with an unusual clinical onset, where the differential diagnosis involved clinical overlap of several diseases, who was diagnosed with a homozygous mutation in the ADA2 gene, and who came with complaints of abdominal swelling and chest pain.Conclusion:Unlike ADA2 deficiency, which is often considered in differential diagnosis with early-onset stroke, vasculitis, immunodeficiency, and hematological abnormalities, our case contributes to the literature by presenting with liver parenchymal disease and portal hypertension findings.