Screening for severe combined immunodeficiency in neonates. Clin Epidemiol 2013;5:363-9
Date
09/27/2013Pubmed ID
24068875Pubmed Central ID
PMC3782515DOI
10.2147/CLEP.S48890Scopus ID
2-s2.0-84884383154 (requires institutional sign-in at Scopus site) 33 CitationsAbstract
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.
