April 17, 1997
SickKids researchers identify new human immune disorder; bone marrow transplant may be a possible cure
TORONTO - Researchers at The Hospital for Sick Children (SickKids) have identified a genetic basis for a previously unidentified human immune disorder that causes severe inflammation of the gastrointestinal system and lungs. The discovery, announced this month in the Proceedings of the National Academy of Science USA, indicates that autoimmune disorders can result from abnormal development of the immune system.
"Autoimmune disorders are conditions in which the immune system attacks the body's own tissues as if they were foreign substances," explains Dr. Chaim Roifman, head of the hospital's division of Immunology/Allergy, a Professor of Paediatrics, Medicine and Immunology at the University of Toronto. "In this specific case, there's an aberration in the gene (called the interleukin-2 receptor alpha gene) which controls part of the immune cell development process. As a result, abnormal immune cells escape from the thymus gland, where they are developing, instead of being destroyed. They then attack the body."
Despite the severe tissue damage caused by the disorder, Dr. Roifman and his colleagues have been able to completely reverse it with a bone marrow transplant in a patient they have identified with the disorder.
"The success of this treatment leads us to believe that bone marrow transplantation might be an option for other patients with debilitating autoimmune diseases, such as severe arthritis or colitis," Dr. Roifman says. "We are now exploring the possibility that common autoimmune disorders are caused by milder aberrations of the interleukin-2 receptor alpha gene."
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