Newborn Screening Improves Survival Outcomes of Patients with SCID

Babies with severe combined immunodeficiency (SCID)--commonly known as bubble boy disease--who are diagnosed at birth, have significantly improved survival.

Investigators conducted a retrospective cohort study by comparing the outcomes of 60 babies diagnosed at, or before, birth (between 1982 and 2010) with the outcomes of their relatives who also had the disorder. The information for the study was gathered from databases from Great Ormond Street Hospital National Health Service (NHS) Trust (London, UK) and Newcastle General Hospital (London, UK).

Published in the January 2011 issue of Blood, the Journal of the American Society of Hematology (ASH), the study demonstrated that babies with severe combined immunodeficiency (SCID) who are diagnosed at birth and receive a hematopoietic stem cell transplant (HSCT), have significantly improved survival.

SCID is a rare group of genetic disorders characterized by severe abnormalities of the development and function of the immune system due to a lack of T lymphocytes. These white blood cells help resist infections due to a wide array of viruses, bacteria, and fungi. Patients with SCID lack almost all immune defenses, are prone to serious, life-threatening infections within the first few months of life, and require major treatment for survival beyond infancy.

"This is the first study that shows formal comparative data to demonstrate that newborn diagnosis can improve survival in SCID patients, regardless of the type of donor or conditioning regimen used," said H. Bobby Gaspar, MD, PhD, senior author of the study and professor of pediatrics and immunology at University College London (UCL) Institute of Child Health in (London, UK).

Related Links:
Great Ormond Street Hospital National Health Service
Newcastle General Hospital
University College London (UCL) Institute of Child Health