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

Wednesday, 26 May 2021 08:54

The term “exercise is medicine” is rightfully well publicised. It’s one of the best ways to stay healthy, yet medicine doesn’t work if you aren’t prepared to take it.

Sunday, 23 May 2021 08:15

We sometimes need to use antibiotics to treat sick animals, but taking advantage of opportunities to reduce antibiotics use could benefit everyone

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...

Friday, 28 July 2023 17:45

Respiratory viruses like influenza virus (flu), SARS-CoV-2 (which causes COVID) and respiratory syncytial virus (RSV) can make us sick by infecting our respiratory system, including the nose, upper...

Tuesday, 27 April 2021 08:56

Peas, lentils, chickpeas, beans and peanuts: if it comes in a pod then chances are it’s a legume. These unassuming food crops have a special ability that makes them fairly unique in the plant...

Tuesday, 25 July 2023 17:28

Certain foods or dietary patterns are linked with better control of your asthma. Others may make it worse. Depending on what you’ve eaten, you can see the effects in hours.

New Attitudes - New Possibilities

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