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Scientists Discover New Genetic Immune Disorder in Children – 3
Narrator: This is NIH Health Matters. DIRA is a newly-discovered and rare auto-inflammatory syndrome caused by disregulation of a receptor protein in the immune system.
Dr. Goldbach-Mansky: The disease is caused by a genetic mutation in one of the innate immune system genes that actually lead to the fact that this protein is not expressed.
Narrator: Dr. Raphaela Goldbach-Mansky at National Institute of Arthritis and Musculoskeletal and Skin Diseases says scientists have identified nine patients from six families with DIRA in the Canadian province of Newfoundland, the Netherlands, Lebanon, and northwest Puerto Rico where as many as 2.5 percent of the population are carriers. For details, visit www.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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