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Babies with DiGeorge syndrome saved by immune supression, thymus transplant

DURHAM, N.C. -- Duke University Medical Center researchers have developed a combination immune suppression and thymus transplantation technique to save infants born with complete DiGeorge Syndrome, a fatal genetic disorder.

Babies with complete DiGeorge Syndrome have no thymus, a gland important in the maturation of T cells -- specialized immune cells that help protect the body against viruses, bacteria and other pathogens. The thymus teaches T cells to fight infection while not attacking the infant's own tissues.

Duke is the only center to offer thymus transplantation as a cure for the immune defect. Without this treatment, infants with complete DiGeorge syndrome are unable to fight off infections and will die.

Until recently, some babies with complete DiGeorge could not receive a thymus transplant because some of their bone marrow cells had spontaneously transformed into rogue T cells. These T cells attack both the body's own tissues and foreign tissue, so thymus transplants would be rejected.

Building on 12 years of experience in treating DiGeorge syndrome, Louise Markert, M.D., associate professor of pediatrics at Duke University Medical Center, and her colleagues found that quashing the rogue T cells with an immunosuppressant drug given for three days immediately before transplant surgery resulted in successful thymus transplants. Five of six infants who underwent the new procedure survived and now live at home; one succumbed to a preexisting respiratory infection. "This really works for this population," Markert said. "It's still experimental, but right now it's the best option."

The immunosuppressant drug, called Thymoglobulin, only targets T cells, Markert said. "It's less powerful than most chemotherapy. We really only need the T cells killed, and just long enough for the transplant," she said.

The transplant method and treatment results for the six infants with DiGeorge syndrome will appear in the Oct. 15, 20
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Contact: Becky Oskin
becky.oskin@duke.edu
919-684-4148
Duke University Medical Center
3-Aug-2004


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