Researchers Find Cause of Rare Immune Disease

Immune lNIH scientists have identified a genetic mutation that causes cold temperatures to trigger allergic reactions—a condition called cold urticaria. In addition to pointing the way toward a potential cure, this finding will help shed light on how the immune system functions.

Cold urticaria in an allergic disease in which cold temperatures bring itchy, sometimes painful hives, episodes of fainting and potentially life-threatening immune reactions. Earlier research had tied the disease to immune system cells called mast cells. Mast cells release toxic compounds that help destroy invading microbes in a process called degranulation. In people with cold urticaria, mast cells degranulate in response to cold. What leads to this misfire, however, wasn't known.

A research team led by Dr. Joshua Milner of NIH's National Institute of Allergy and Infectious Diseases (NIAID) and Dr. Daniel Kastner of NIH's National Human Genome Research Institute (NHGRI) set out to investigate. Support for the study also came from NIH's National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). on January 11, 2012.

The scientists studied 27 people from 3 separate families. All the participants suffered from an inherited form of cold urticaria. A genetic analysis uncovered mutations in the gene for phospholipase C-gamma2 (PLCG2), an enzyme involved in activating immune cells. These mutations cause the enzyme to function without shutting off. The team named the condition PLCG2-associated antibody deficiency and immune dysregulation, or PLAID.

The researchers found that patients with PLAID can have excessive or deficient immune system reactions. Analysis of blood samples revealed that many participants produced antibodies to their own cells and tissues (autoantibodies), making them more likely to develop autoimmune disease. More than half had a history of recurrent infections. Three had common variable immunodeficiency, which requires frequent intravenous infusions of antibody to prevent severe infections. Seven suffered from granulomas (inflamed masses of tissue) on their fingers, ears, nose and other parts of their skin.


 Get The Latest By Email

Weekly Magazine Daily Inspiration

Laboratory tests showed that the mutated gene causes abnormal activity in several types of immune cells, including B cells, which are responsible for producing antibodies. Mast cells with the mutations spontaneously degranulate at cool temperatures, which could explain why the patients develop cold-induced hives.

These results suggest that inhibiting PLCG2 activity could be a way to treat PLAID. They also suggest that people previously diagnosed with common variable immunodeficiency disease or granulomas might have a PLCG2 gene mutation.

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,” says Milner.


  • http://www3. niaid. nih.

  • http://www. niaid. nih. gov/topics/immunesystem/Pages/default.

Article Source:

http://www.nih.gov/researchmatters/january2012/01232012immune.htm

AVAILABLE LANGUAGES

English Afrikaans Arabic Chinese (Simplified) Chinese (Traditional) Danish Dutch Filipino Finnish French German Greek Hebrew Hindi Hungarian Indonesian Italian Japanese Korean Malay Norwegian Persian Polish Portuguese Romanian Russian Spanish Swahili Swedish Thai Turkish Ukrainian Urdu Vietnamese

follow InnerSelf on

facebook icontwitter iconyoutube iconinstagram iconpintrest iconrss icon

 Get The Latest By Email

Weekly Magazine Daily Inspiration

Saturday, 15 May 2021 16:24

There exist several approaches to obtaining optimal health, all of them important, each of them acting in some way on all the aspects of our beings. I know that if a technique were valid for...

Wednesday, 05 May 2021 08:15

While our immune system and antibiotics both do a great job of helping us fight life-threatening infections, the emergence of antibiotic resistance is quickly making it more difficult to cure...

Wednesday, 28 April 2021 08:51

Insects are attracted to landscapes where flowering plants of the same species are grouped together and create big blocks of color, according to new research.

Wednesday, 26 July 2023 17:18

Do you know why junk food is so addictive? Are you craving sweets yet? If you've ever wondered why junk food can be so addictive, you're not alone.

Thursday, 15 April 2021 13:22

Skin brushing is a highly effective technique for cleansing the lymphatic system. Topics covered in this article: Benefits of Skin Brushing; What type of skin brush is the best to use; How to Brush...

Wednesday, 19 May 2021 09:40

To “cry poor mouth” is an expression used to habitually complain about a lack of money. A literal poor mouth, however, represents one of the most widespread global diseases: tooth decay.

New Attitudes - New Possibilities

InnerSelf.comClimateImpactNews.com | InnerPower.net
MightyNatural.com | WholisticPolitics.com | InnerSelf Market
Copyright ©1985 - 2021 InnerSelf Publications. All Rights Reserved.