Rare genetic disorder has been detected in a woman who is more than 70 years old

The woman is the first known woman in the world to have the syndrome, known as T-cell acute lymphoblastic leukemia. T-cell acute lymphoblastic leukemia is an inherited cancer that has killed a patient at age 35. The finding adds to a growing body of evidence that suggests an understanding of how the immune system works is key to treating cancers and many other diseases. “Our new findings will help us understand the mechanisms by which T-cell acute lymphoblastic leukemia can be treated,” said Kenneth Hoppe, MD, associate professor of pediatrics and immunology and a member of the UT Austin Cancer Center. The study was published recently in the American Journal of Human Genetics. The case is unique because of the woman’s age and her medical history. A number of previous cases of T-cell acute lymphoblastic leukemia have been reported, but they are of relatively young patients who were diagnosed after age 50. A majority of patients with T-cell acute lymphoblastic leukemia die from the disease within two years of diagnosis. While this rare genetic disorder is rare, it is not unheard of. The Institute for Genomic Biology at UT Austin was the first in the world to discover a genetic disorder in a patient who was 70 years old. In an earlier case of T-cell acute lymphoblastic leukemia, an 86-year-old woman with multiple blood cancers had to be taken off of chemotherapy, which had destroyed her liver and other organs. T-cell acute lymphoblastic leukemia is characterized by an abnormally low level of B-lymphocytes, the white blood cells that control the immune system. It is an autoimmune disease, meaning the body’s own immune system attacks its own tissues. The woman in the UT Austin study has two genes that are linked to T-cell acute lymphoblastic leukemia. Her mother had a gene mutation that led to the condition. When the mother and daughter were each given a test that would give them a specific number of cells, the daughter with the mutated gene had six times more than the mother with the normal gene. Researchers believe that B-lymphocyte count is a predictor of the severity of the disease. B-lymphocyte count is a good predictor of how long patients will live and a good predictor of survival. “It’s very encouraging to know that this patient with this mutation was able to survive for a long time,” said Dr. Suzanne Wozniak, associate professor of pediatrics and a member of the Institute for Genomic Biology. “This is important to realize that in most cases, the genes are silent and you don’t know that you have this mutation until it’s too late. But in this case, the patient had this mutation and she lived a long time.”

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