There is widespread recognition among the clinical immunology community that early diagnosis of severe combined immune deficiencies (SCID) with prompt initiation of immune reconstitution via a bone marrow (hematopoietic stem cell) transplant has the greatest likelihood of long-term success.

Rebecca Buckley, M.D., FAAP, from Duke University, recently reported that 45 of 48 SCID patients transplanted prior to 3.5 months of age have survived with full immune reconstitution, putting the potential for cure at higher than 90%.

The real challenge to effective cure is to identify infants with SCID as early as possible. To this end, newborn screening procedures for SCID were piloted in Wisconsin and subsequently were initiated in Massachusetts, New York and California. These programs utilize an approach pioneered by Jennifer Puck, M.D., professor of pediatrics at University of California, San Francisco, that involves extracting DNA from a 3 millimeter punch taken from the Guthrie card dried blood spot....

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