Male or female patient less than 2 years of age with either a) engraftment of transplacentally acquired maternal T cells; or b) less than 20% CD3+ T cells, an absolute lymphocyte count of less than 3000/mm3 and at least one of the following:
Male or female patient less than 2 years of age with less than 20% CD3+ T cells, an absolute lymphocyte count of less than 3000/mm3 and proliferative responses to mitogens less than 10% of control; or the presence of maternal lymphocytes in the circulation.
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.