People with SCID due to ADA lack virtually all immune protection from bacteria, viruses, and fungi.
- Autosomal recessive condition affects muscles
- Adenosine deaminase needed to degrade Adenosine/deoxyAdenosine
- Raised dATP causes lymphocyte toxicity
- Disorder of purine metabolism
- Severe opportunistic infection and failure to thrive
- Fatigue, muscle pain (myalgia), or cramps after exercise or prolonged physical activity (exercise intolerance)
- Without treatment, the condition is fatal in the first year of life and therefore necessitates early intervention
- Matched sibling donor transplants represent a successful treatment option with high survival rates and excellent immune recovery.
- Mismatched parental donor transplants have a poor survival outcome and should be avoided unless other treatments are unavailable