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Screening Programs Identify SCID in One in 58,000 Infants
High survival for SCID-affected infants; 87 percent survive through diagnosis, immune reconstitution

TUESDAY, Aug. 19, 2014 (HealthDay News) -- Newborn screening programs in the United States have identified severe combined immunodeficiency (SCID) in one in 58,000, with high survival seen in SCID-affected infants, according to a study published in the Aug. 20 issue of the Journal of the American Medical Association.

Antonia Kwan, Ph.D., from the University of California in San Francisco, and colleagues presented data from a spectrum of SCID newborn screening programs to establish the population-based incidence of SCID. Data were submitted for 3,030,083 newborns from 10 states, screened with assays to detect T-cell receptor excision circles.

The researchers found that 52 cases of typical SCID, leaky SCID, and Omenn syndrome were detected with screening, affecting one in 58,000 infants. Through diagnosis and immune reconstitution, survival of SCID-affected infants was 87 percent, and survival was 92 percent for infants who received transplantation, enzyme replacement, and/or gene therapy. Immunoglobulin infusions, preventative antibiotics, and avoidance of live vaccines were additional interventions for SCID and non-SCID T-cell lymphopenia. The rates of detection of non-SCID T-cell lymphopenia were influenced by variations in definitions and follow-up practices.

"Newborn screening in 11 programs in the United States identified SCID in one in 58 000 infants, with high survival," the authors write. "The usefulness of detection of non-SCID T-cell lymphopenias by the same screening remains to be determined."

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October 22, 2014

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