Journal of the American Medical Association Publishes New Study Offering Further Validation for Newborn Screening for SCID, a Life-Threatening Primary Immune Disorder

IDF Medical Advisory Committee member Jennifer Puck, MD, is the senior author

Aug 19, 2014, 17:00 ET from Immune Deficiency Foundation

TOWSON, Md., Aug. 19, 2014 /PRNewswire/ -- The Immune Deficiency Foundation (IDF) applauds a new study published August 19, 2014 in the Journal of the American Medical Association that underscores the importance of newborn screening for Severe Combined Immune Deficiency (SCID), also known as Bubble Boy disease.

Jennifer M. Puck, MD, senior author of the study and a renowned SCID expert, is also a member of IDF's Medical Advisory Committee. Said Puck, "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 retrospective study of more than 3 million infants in 10 states, plus the Navajo Area Indian Health Service, found an incidence of one case of SCID per 58,000 births, nearly twice the previously estimated rate of one in 100,000. The study also found that 92% of infants with SCID who received bone marrow transplants and other early interventions survived, underscoring the value of early detection and treatment. In addition to SCID, the screening test also identifies non-SCID conditions in which T lymphocytes may be dangerously low. Some of these were unrecognized prior to screening.

Marcia Boyle, president and founder of IDF said, "This study is one more key piece of evidence documenting the importance of SCID newborn screening, which allows SCID to be detected and treated before babies risk serious infection and death. Newborn screening not only saves lives but is also cost effective, saving an estimated $500,000 to 4 million per infant diagnosed."

IDF urges all states to adopt SCID newborn screening as part of their routine panels, as was recommended by the Department of Health and Human Services in 2010. When diagnosed and treated early, infants with SCID have over a 90% chance of being effectively "cured." This testing is now part of the standard newborn screening panel in 24 states.

The Immune Deficiency Foundation (IDF) is the national non-profit patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases (PI) through advocacy, education and research.

SOURCE Immune Deficiency Foundation