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FOCUS ON RESEARCH Previous Volume 354:1874-1877 May 4, 2006 Number 18 Next

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During the past decade, we have witnessed major advances in the identification of mutations that cause primary immunodeficiency disorders — exciting results of the successful blending of fundamental and clinical research. Among the disturbances that disable the immune system is severe combined immunodeficiency (SCID), which occurs at a rate of 1 per 75,000 births. Babies born with SCID have greatly increased susceptibility to many environmental pathogens, and without treatment, these babies die of infection within 6 to 12 months. The curative treatment is allogeneic hematopoietic stem-cell transplantation, which provides the T-cell progenitors that are missing in patients with SCID.

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Dr. Rudd is a professor of pathology at the University of Cambridge, Cambridge, United Kingdom.

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