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Newborn testing for immune disorders could save lives

DURHAM, N.C. -- A simple, inexpensive blood test performed at birth to screen for immune disorders could dramatically increase the chance of survival for babies born with such potentially fatal disorders as severe combined immunodeficiency disease (SCID).

Physicians at Duke University Medical Center have performed stem cell transplants in 136 infants with SCID in the past 22 years. The survival rate for 38 infants receiving transplants in the first 3.5 months of life is 97 percent, but the rate drops to 69 percent for infants who were transplanted after that age, Rebecca Buckley, M.D., reports in the April 23, 2004, Annual Review of Immunology.

The main cause for the drop in survival rate is serious infections SCID babies develop in the first few months of life. Infants with SCID have little or no immune system. Without treatment, they die of infection before their first or second birthdays. But for infants without a known family history of SCID, the average age of referral for immune testing is approximately 6 months, Buckley said. "The tragedy is that most patients are critically ill by then,'' she said.

Buckley believes that all newborns should be screened for immune deficiency disorders at birth. "SCID is a pediatric emergency. There is no screening for any primary immunodeficiency disease at birth or during childhood and adulthood in any country. Thus, most patients are not diagnosed until they develop a serious infection, which certainly adversely affects the outcome of therapy," said Buckley, a professor in Duke's division of pediatric allergy and immunology.

Early treatment also reduces costs -- a transplant in the first three months of life can cost less than $50,000, but the cost of care skyrockets up to millions of dollars for seriously ill patients, with less guarantee of success. And SCID patients who received stem cell transplants from related donors within the first 28 days of life developed a more robust immune system,
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Contact: Becky Oskin
becky.oskin@duke.edu
919-684-4148
Duke University Medical Center
21-Apr-2004


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