SC adds Additional Newborn Screening

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The South Carolina Department of Health and Environmental Control recently added Severe Combined Immunodeficiency to the panel of newborn screening, which all infants born in the state receive soon after delivery. SCID describes a group of rare inherited disorders characterized by defects in two critical immune system cells.

Some may refer to SCID as “bubble boy disease.” Without treatment, infants with SCID are more susceptible to and can develop recurrent infections, leading to failure to thrive and oftentimes death. While it is difficult to quantify the prevalence of SCID due to the lack of consistent surveillance, it is estimated that 40-100 infants are diagnosed with SCID each year in the United States. While relatively rare, there is documented medical benefit to early detection and treatment for those affected by the disorder.