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

More than 20 years ago, doctors at Mattel Children's Hospital UCLA performed a successful bone marrow transplant on a baby girl who was born without a thymus gland and was suffering from severe immune deficiency. It marked the first time a bone marrow transplant, rather than a thymic transplant, had been used to treat the genetic condition known as DiGeorge Syndrome (DGS).

The doctors lost track of the young girl when her family moved away but were reunited with her when she returned to UCLA for heart treatment in 2005. Upon rechecking the young woman's immune system, they were pleased to learn that she continued to do well.

Inspired by her positive long-term outcome along with a handful of other DGS bone marrow transplant patients worldwide UCLA researchers embarked on a study to follow up on the benefits of bone marrow transplant treatment. Their findings are published in the October 2007 issue of the peer-reviewed Journal of Allergy and Clinical Immunology.

Overall, the researchers found that survival with bone marrow transplant was greater than 75 percent, similar to thymic transplantation.

"We believe that this long-term follow-up study indicates that bone marrow transplant is a good procedure and more readily available than thymic transplantation for complete DiGeorge syndrome," said co-author Dr. E. Richard Stiehm, professor of pediatrics in the division of immunology, allergy and rheumatology at Mattel Children's Hospital UCLA. "This also suggests that the thymus may not be necessary for immune development after birth, or that other tissues, such as the skin, may serve as a thymus equivalent."

DiGeorge syndrome is a common genetic immunodeficiency that occurs in one out of every 2,000 people. The syndrome includes thymic and parathyroid deficiency, chromosome abnormalities, low calcium levels and decreased immunity. Patients often have heart problems and developmental delay, which bone marr
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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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