Deficiency of Adenosine deaminase Type 2: An Unusual Clinical Presentation

Yıl 2026, Cilt: 8 Sayı: 1, 193 - 199, 28.02.2026

Hanife Ayşegül Arsoy , Hatice Zeynep Terzi , Seçil Hasdemir , Hatice Güneş , Şefika Elmas Bozdemir

https://izlik.org/JA75HM27FU

Öz

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.

Anahtar Kelimeler

adenosine deaminase 2 deficiency , chronic liver disease , portal hypertension

Adenozin Deaminaz Tip 2 Eksikliği: Olağandışı Bir Klinik Sunum

https://izlik.org/JA75HM27FU

Öz

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.

Anahtar Kelimeler

adenozin deaminaz 2 eksikliği , portal hipertansiyon , kronik karaciğer hastalığı

Kaynakça

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