Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011).

摘要: Severe combined immunodeficiency is a life-threatening primary immune deficiency characterized by low numbers of naive T cells. Early diagnosis and treatment this disease decreases mortality. In 2008, Wisconsin began newborn screening infants for severe other forms T-cell lymphopenia the receptor excision circle assay. total, 207,696 were screened. Seventy-two had an abnormal normal in 38 infants, 33 not performed one infant, giving positive predictive value any cause 45.83% specificity 99.98%. Five with immunodeficiency/severe requiring hematopoietic stem cell transplantation or therapy detected. summary, assay sensitive specific test to identify that leads life-saving therapies such as prior acquisition infections.