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PostPosted: Tue Jan 24, 2012 10:22 am 
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Joined: Thu Dec 20, 2007 7:23 pm
Posts: 823
Location: Kingston
Genetic Mutation Leads to Cold Allergy, Immune Deficiency and Autoimmunity

Quote:
he NIH study involved 27 people from three separate families who all suffered from an inherited form of cold urticaria, an allergic disease characterized by the formation of itchy, sometimes painful hives, episodes of fainting and, in certain cases, life-threatening reactions in response to cold temperatures.

Blood sample analysis revealed that many patients produced antibodies to their own cells and tissues (autoantibodies), making them more susceptible to developing autoimmune disease. More than half had a history of recurrent infections, and laboratory tests revealed that most had low levels of infection-fighting antibodies and low numbers and reduced activity of circulating immune B cells—all symptoms of immune deficiency disease. In three cases, patients had common variable immunodeficiency, a disease that requires frequent intravenous infusions of immune globulin to prevent severe infections. Seven patients suffered from granulomas, inflamed masses of tissue, which formed on their fingers, ears, nose and other parts of their skin.

“This is one of few examples in which the allergy symptom directed us to a genetic syndrome,” says Dr. Milner. “In trying to understand the link between this group of conditions—autoimmunity, chronic infections and cold urticaria—we not only identified a disease-causing mutation but uncovered a unique and fascinating genetic mechanism at the crux of allergy, immune defense and self-tolerance.”


http://www.niaid.nih.gov/news/newsrelea ... PLAID.aspx

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