Definition: inherited genetic disorder characterized by the impaired metabolism of deoxyadenosine during DNA breakdown
Epidemiology
Etiology
Pathophysiology
- Adenosine deaminase (ADA): An enzyme involved in purine metabolism that is associated with lymphocyte activation.
- Deficiency in adenosine deaminase → ↓ breakdown of adenosine and deoxyadenosine → ↑ deoxyadenosine (dATP) accumulation → ↓ enzyme activity of ribonucleotide reductase → lymphocyte toxicity → immunodeficiency
Clinical features
- Severe, recurrent infections
- Growth faltering