Definition: inherited genetic disorder characterized by the impaired metabolism of deoxyadenosine during DNA breakdown
Epidemiology
Etiology
Pathophysiology
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
Diagnostics
Treatment
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