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    Gene Research Sheds Light on Rare Immune Disease

    HealthDay – Thu, Jan 12, 2012

    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.

     

    5 comments

    • Brandon
      Brandon  •  4 mths ago
      Very interesting.
    • Kate
      Kate  •  Exeter, New Hampshire  •  4 mths ago
      The hump back whales followed that fishing fleet into harbor because they wanted to eat.
      They knew fish food was on that boat.
      The fishing fleet is taking all the food from the whales and other sea creatures.
      Let's just take what we need.
      Omg
      we are causing starvation for the poor creatures
      they are not changing their behavior for no reason
      they are hungry you idiots
    • barbara
      barbara  •  4 mths ago
      good. this is real news, not like actors getting divorced and politicians making more laws that we don't need!
    • go2sleep
      go2sleep  •  4 mths ago
      Now if only fibromyalgia had the same breakthrough research
    • Mean Old Quack
      Mean Old Quack  •  4 mths ago
      I wish that something could be done about my 'roids.
      • Kate
        Kate 4 mths ago
        EAT THE RIGHT FOODS
     Post a comment
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