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Patients with SCID usually develop failure to thrive and persistent diarrhea, respiratory symptoms and/or thrush in the first 2 to 7 months of life. Pneumocystis pneumonia, significant bacterial infections and disseminated BCG infection are common presenting illnesses. Occasional patients do not have failure to thrive and are not recognized to have immunodeficiency until late in the first year of life. SCID is fatal in the first 2 years of life unless the patient is treated with extremely restrictive isolation, hematopoietic stem cell transplant or therapy that replaces the abnormal gene or gene product.
Diagnosis
Diagnostic recommendations
Additional Information
Therapeutic options
- Treatment of infections with antibacterials, antifungals, and antivirals. Bone marrow transplantation is the only treatment of SCID. Other recommendations include intravenous gamma-globulin infusion, irradiation of all blood products.
- National Marrow Donor Program
- Severe Combined Immunodeficiency, eMedicine