The study discovered approximately a single case of SCID for every 58,000 births.
A new study published on August 19, 2014 in the Journal of the American Medical Association highlights the importance of screening newborns for Severe Combined Immune Deficiency, also referred to as Bubble Boy disease. The Immune Deficiency Foundation supports the study.
The study’s senior author, Jennifer M. Puck, MD, SCID expert and a member of the IDF’s Medical Advisory Committee, said in a statement, “The goal of all newborn screening tests is to identify infants with rare, but treatable conditions so that prompt, life-saving treatment can be given. SCID fits the criteria to be included in newborn screening panels, and now this large study shows the success of implementing SCID screening on a wide scale.”
The study, with over 3 million infants within 10 states along with the Navajo Area Indian Health Service, discovered approximately a single case of SCID for every 58,000 births. This is roughly two times higher than the previous estimate of one in 100,000. Additionally, the study discovered that 92 percent of infants with SCID who had access to bone marrow transplants and various other early intervention methods survived, highlighting the value of early detection and treatment.
According to scid.net, the most prominent characteristic of the disorder is a serious defect in the T- & B-lymphocyte systems. This defect often leads to at least one serious infection early in life, including pneumonia, meningitis, or bloodstream infections.
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