Printable factfile
Nearly all patients with ZAP-70 defects presented with typical clinical features of
SCID in early life: severe pulmonary infection often sustained by
opportunistic pathogens (Pneumocystis Carinii), chronic diarrhea, failure to thrive, and persistent candidiasis. Most patients have detectable lymphoid tissue since peripheral blood lymphocyte counts are normal or elevated.
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
Genetic:
Therapeutic options
- Bone marrow transplantation have been successful. Isolation in a protected environment. Regular use of antibiotic prophylaxis (trimethoprim 5mg/kg, sulfamethoxazole 21mg/kg 21 days) and intravenous immunoglobulins (400mg/kg/21 days).
- Severe Combined Immunodeficiency, eMedicine
- National Marrow Donor Program