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Scientists Identify Genetic Cause of Previously Undefined Primary Immune Deficiency Disease – 1
Narrator: This is NIH Health Matters. Researchers have discovered a genetic mutation that accounts for a perplexing condition found in people with an inherited immunodeficiency. An immunodeficiency is when the body's immune system is reduced or absent.
Dr. Su: This discovery was made in a group of patients.
Narrator: Dr. Helen Su is at the National Institute of Allergy and Infectious Diseases.
Dr. Su: But they were a group of patients that didn’t quite fit any known diagnosis very well.
Narrator: The particular immunodeficiency is called combined immunodeficiency. It can lead to severe health problems, including persistent bacterial and viral skin infections, acute allergies and asthma, and cancer. For more information on combined immunodeficiency, 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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