![]() We searched PubMed for all articles published from 1997 to 2001 that included the following key words: “severe combined immune deficiency,” “adenosine deaminase deficiency,” and “combined B- and T-cell immunodeficiencies.” We obtained additional articles by personally locating information in libraries. We used several methods to identify articles relevant to SCID. Validated tests and pilot population studies are necessary to determine newborn screening’s potential for identifying infants with SCID. Because SCID may be unrecognized, with infant deaths from infection attributed to other causes, newborn screening is the only way to ascertain true birth prevalence. Tests for TCLP on dried blood spots could be developed as a screen for SCID. Dried blood spots are currently collected from all infants at birth for newborn metabolic screening. The availability of effective therapies, plus the short asymptomatic period after birth, (when stem-cell transplantation is most effective), make SCID a potentially good candidate for newborn screening. In clinical trials, gene therapy has been used to reconstitute immune function in patients with IL2RG and ADA defects. Currently, hematopoietic stem cell transplants are the standard treatment. Some minimal estimates of SCID prevalence are presented. Population-based genotype and allelic frequencies of these gene defects have not been measured. Mutations in unidentified genes may also cause SCID. Mutations in any of eight known genes: IL2RG, ARTEMIS, RAG1, RAG2, ADA, CD45, JAK3, and IL7R cause SCID. Affected children develop severe bacterial and viral infections within the first 6 months of life and die before 1 year of age without treatment. Severe combined immunodeficiency (SCID) is an inherited immune disorder characterized by T-cell lymphopenia (TCLP), a profound lack of cellular (T-cell) and humoral (B-cell) immunity and, in some cases, decreased NK-cell number and function.
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