In Canada, severe combined immunodeficiency is diagnosed at a mean age of 4.2 months and carries a mortality rate of 30%, with nearly 60% of deaths caused by infection before patients are able to receive a transplant. 3, 4 Early diagnosis is essential, as patients who receive a transplant before 3.5 months of age have the best outcomes. Infants with severe combined immunodeficiency commonly appear healthy at birth consequently, the condition often presents only when the child has already had many infections and secondary organ damage. 1, 2 The condition is fatal early in life if affected infants do not receive therapy to restore immune function in the form of hematopoietic stem cell transplantation, enzyme replacement therapy or gene therapy. Severe combined immunodeficiency is caused by genetic defects that profoundly impair development of the immune system. Infants with a positive newborn screen for severe combined immunodeficiency require referral to a clinical immunologist, as well as precautionary measures against infection while they undergo evaluation. The newborn screen for severe combined immunodeficiency evaluates for T-cell lymphopenia using a T-cell receptor excision circle assay, which can be performed on the dried newborn blood spot. Outcomes for severe combined immunodeficiency are greatly improved by early diagnosis and treatment. Severe combined immunodeficiency is a medical emergency that can potentially be cured by hematopoietic stem cell transplantation or gene therapy (in specific diseases).
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