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Gene Research Sheds Light on Rare Immune Disease

Gene Research Sheds Light on Rare Immune Disease


WEDNESDAY, Jan. 11 (HealthDay News) -- A genetic mutation that causes a rare immune disease characterized by impaired and excessive immune function has been identified by scientists.

Symptoms of the disorder include immune deficiency, inflammatory skin disorders and cold-induced hives (cold urticaria), according to the report published online in the Jan. 11 edition of the New England Journal of Medicine.

The U.S. National Institutes of Health team identified the genetic mutation in 27 members of three unrelated families who suffered from cold urticaria, a potentially serious allergic disease triggered by exposure to cold temperatures.

The mutation occurs in a gene for phospholipase C-gamma2 (PLCG2), an enzyme involved in the activation of immune cells, the investigators found.

The researchers have named the immune disorder PLCG2-associated antibody deficiency and immune dysregulation (PLAID).

"This is one of few examples in which the allergy symptom directed us to a genetic syndrome," study leader Dr. Joshua Milner, of the Laboratory of Allergic Diseases at the U.S. National Institute of Allergy and Infectious Diseases (NIAID), said in a news release from the institute.

"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," Milner added.

"Investigating rare diseases gives researchers more clues about how the healthy immune system functions," NIAID director Dr. Anthony Fauci said in the news release. "More importantly, identifying the genetic cause of these disorders opens up possibilities for better disease management and potentially a cure for people who may have spent their entire lives debilitated by severe and unexplained symptoms."

More information

DermNet NZ has more about cold urticaria.

Copyright © 2012 HealthDay. All rights reserved.

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.


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