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Rapid, new test develped for inherited immune deficiency

BETHESDA, Md., Tuesday, Feb. 22, 2005 -- Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), have developed a new laboratory method that rapidly identifies babies born with inherited forms of severe immune deficiency. The new genetic test, which still must be validated before widespread use, could someday be added to the panel of tests that already screen newborns for a variety of disorders.

The test identifies babies born with Severe Combined Immunodeficiency, or SCID, an illness in which the infant fails to develop a normal immune system. SCID babies can be infected by a wide range of viruses, bacteria and fungi that are normally controlled by a healthy baby's immune system. If undetected and untreated, SCID typically leads to death before the baby's first birthday.

Developed in the NHGRI Division of Intramural Research (DIR), the new test can use the same dried blood samples already collected from newborns and would provide the first accurate, high-throughput screen for immune deficiencies. Prior efforts to identify this disorder by counting white blood cells in newborns proved unreliable and expensive.

"This new laboratory technique is an excellent example of how increasingly sophisticated genetic tools can be applied to important public health problems," said NHGRI Scientific Director Eric D. Green, M.D., Ph.D. "Here we have a chance to catch an illness early when treatment is most effective. This new approach provides a rapid, accurate indication of a possible immune problem immediately after birth while the infant is protected by the mother's antibodies still circulating in the baby's blood."

If SCID is diagnosed in time, there are effective treatments. One form of the disease can be treated with an injectable medication. All forms of the disorder can be cured through the transplantation of bone marrow if a matching donor can be identified. And finally,
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Contact: Geoff Spencer
spencerg@mail.nih.gov
301-402-0911
NIH/National Human Genome Research Institute
22-Feb-2005


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