Screening for severe combined immunodeficiency in neonates
Brian T Kelly,1 Jonathan S Tam,1 James W Verbsky,1,2 John M Routes1,2
1Department of Pediatrics, 2Department of Microbiology and Molecular Genetics, Medical College of Wisconsin, Milwaukee, WI, USA
Abstract: Severe combined immunodeficiency (SCID) is a rare disease that severely affects the cellular and humoral immune systems. Patients with SCID present with recurrent or severe infections and often with chronic diarrhea and failure to thrive. The disease is uniformly fatal, making early diagnosis essential. Definitive treatment is hematopoietic stem cell transplantation, with best outcomes prior to 3.5 months of age. Newborn screening for SCID using the T-cell receptor excision circle assay has revolutionized early identification of infants with SCID or severe T-cell lymphopenia.
Keywords: severe combined immunodeficiency, T-cell receptor excision circle, newborn screening, primary immunodeficiency
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