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Reunion with patient inspires follow-up study on treatment for DiGeorge syndrome
Date:10/17/2007

ow or thymic transplants do not correct. Only a few patients have the severely deficient immune systems characteristic of complete DGS, which is similar to severe combined immunodeficiency (also known as "bubble boy syndrome") and is fatal if untreated.

In this first report of extended survival in patients with complete DGS who were treated with bone marrow transplant with long-lasting immune reconstitution, researchers described the medical history and current immune function of two DGS patients who received transplants more than two decades ago. Now in their 20s, both patients lead normal lives free of serious infections and have preserved immune function.

The study also reviewed nine additional cases from other centers internationally and assessed the current status of all patients but one.

The thymus produces hormones that stimulate the production of certain infection-fighting cells. It is also of central importance in the maturation of T-cells (thymic cells), which help build immunity.

According to Stiehm, the thymus gland is the "university" of the immune system.

"Stem cells must go there to be educated before entering the circulation to fight organisms," he said. "The thymus continues to put out T-cells for a lifetime. It puts out naive T-cells that are then exposed to microbes to become memory T-cells. It was previously thought that the body needs a continuous supply of new naive cells to keep the immune system functioning, but now we think that maybe it's not necessary, since the memory cells from the donor may serve for a lifetime."

The significance is that adult memory cells from bone marrow, or peripheral blood, can persist in the circulation for several decades and keep the patient well, even though new naive T-cells from the thymus are not produced.

A bone marrow transplant works by replacing the patient's marrow with healthy marrow from a matched donor. Ultimately, the new ma
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Contact: Amy Albin
aalbin@mednet.ucla.edu
310-794-8672
University of California - Los Angeles
Source:Eurekalert

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