Scientists Identify Genetic Cause of Previously Undefined Primary Immune Deficiency Disease
Researchers at the National Institutes of Health have identified a genetic mutation that accounts for a perplexing condition found in people with an inherited immunodeficiency. Immunodeficiency disorders occur when the body's immune response is reduced or absent.
Balintfy: An inherited immunodeficiency, called combined immunodeficiency, is characterized by a range of severe health problems, including persistent bacterial and viral skin infections, acute allergies and asthma, and cancer. Researchers recently identified a genetic mutation that accounts for this perplexing condition. Dr. Su: This discovery was made in a group of patients.
Balintfy: Dr. Helen Su is at the National Institute of Allergy and Infectious Diseases.
Dr. Su: But they were a group of patients that didnít quite fit any known diagnosis very well.
Balintfy: NIAID and National Cancer Institute investigators recognized that certain patients with an undefined form of combined immunodeficiency shared enough clinical features to make it likely that the cause might be a common genetic mutation. Scientists examined the genes in tissue samples analyzing large amounts of DNA. Dr. Su characterizes the results, specific to one particular patient:
Dr. Su: It was like there was a big arrow saying, "This is the gene you need to look at."
Balintfy: Dr. Su says that further study is required to determine if these gene mutations occur in other people with similar disease symptoms. She adds that these findings, published in the New England Journal of Medicine, mean that individuals with this rare disease will be able to receive a more accurate diagnosis.
Dr. Su: I think itís important to realize that even though there are very few patients, they really are very helpful for humanity as a whole because the immune system is so important to all of us, in fighting infections, preventing us from getting allergies, preventing us from developing cancers, that the more we understand how it works, the more, for instance, people can manipulate it in terms of developing better drugs to treat autoimmune diseases or even to get the immune system to rev up appropriately if thereís a chronic infection, or even for transplantations.
Balintfy: Dr. Su also says that identifying a genetic cause for the disease provides comfort to some of those diagnosed who had battled an unknown immune disease for years.
Dr. Su: These people may have very strange diseases, but by figuring out what is the molecular cause, itís a very long process but it gives us more knowledge and the tools to think very long term in terms of developing better ways of treating people who might have problems similar or slightly different than these people with the immune system.
Balintfy: Combined immunodeficiency is a type of primary immune deficiency disease in which several parts of the immune system are affected. There are 150 known primary immune deficiency diseases. Approximately 500,000 people in the United States have been diagnosed with one, while many more remain undiagnosed. For more information on this discovery, visit www.niaid.nih.gov. This is Joe Balintfy, National Institutes of Health, Bethesda, Maryland.
About This Audio Report
Reporter: Joe Balintfy
Sound Bite: Dr. Helen Su
Topic: immunodeficiency, combined immunodeficiency, primary immune deficiency disease, PIDD, genes, genetic cause