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Scientists Identify Genetic Cause of Previously Undefined Primary Immune Deficiency Disease – 2

Narrator: This is NIH Health Matters. Immunodeficiency disorders occur when the body's immune response is reduced or absent. One 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. Helen Su at the National Institute of Allergy and Infectious Diseases, says DNA tests in a specific patient helped make the discovery clear:

Dr. Su: It was like there was a big arrow saying, “This is the gene you need to look at.”

Narrator: Scientists analyzed large amounts of DNA to make the discovery. For more information, visit www.niaid.nih.gov. Health Matters is produced by the National Institutes of Health, part of the US Department of Health and Human Services.

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This page last reviewed on March 25, 2011

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