New autoinflammatory disease linked to NOD2 mutations ID'd

New autoinflammatory disease linked to <i>NOD2</i> mutations ID'd
A new autoinflammatory disease characterized by features including inflammatory polyarthritis/polyarthralgia and dermatitis, and involving mutations in the nucleotide-binding oligomerization domain 2 gene has been identified, according to research published online Oct. 26 in the Journal of the American Academy of Dermatology.

(HealthDay)—A new autoinflammatory disease characterized by features including inflammatory polyarthritis/polyarthralgia and dermatitis, and involving mutations in the nucleotide-binding oligomerization domain 2 (NOD2) gene has been identified, according to research published online Oct. 26 in the Journal of the American Academy of Dermatology.

Qingping Yao, M.D., Ph.D., of the Cleveland Clinic, and associates prospectively sought to characterize a new category of autoinflammatory disease in 22 non-Jewish, white patients (13 females, nine males; median age at diagnosis, 40.1 years), all of whom had autoinflammatory and NOD2 gene mutations.

The patients, who were studied between January 2009 and February 2012, had a mean disease duration of 4.7 years and included three females who were siblings. The researchers identified inflammatory polyarthritis/polyarthralgia (20/22), dermatitis (19/22), weight loss (13/22), and episodic self-limiting fever (13/22) as common clinical features. In 13 patients, occurred; sicca-like symptoms were identified in nine patients; and recurrent chest pain was seen in five patients. All patients had mutations in the NOD2 gene, with two variants identified.

"The characteristic clinical phenotype, notably dermatitis, coupled with certain NOD2 variants constitutes a new autoinflammatory disease entity, which we have named as NOD2-associated autoinflammatory disease," the authors write.

More information: Abstract
Full Text (subscription or payment may be required)

add to favorites email to friend print save as pdf

Related Stories

Toward an explanation for Crohn's disease?

Jul 09, 2009

Twenty-five per cent of Crohn's disease patients have a mutation in what is called the NOD2 gene, but it is not precisely known how this mutation influences the disease. The latest study by Dr. Marcel Behr, of the Research ...

Scientists discover new genetic immune disorder in children

Jun 04, 2009

Your immune system plays an important function in your health—it protects you against viruses, bacteria, and other toxins that can cause disease. In autoinflammatory diseases, however, the immune system goes awry, causing ...

Researchers pinpoint role of key proteins in Crohn's Disease

Jun 14, 2011

(Medical Xpress) -- Researchers at the University of Toronto have discovered the role the interactions between key proteins plays in the body’s response to Crohn’s Disease - a revelation that may lead to the development ...

Recommended for you

A better biomonitor for children with asthma

Dec 10, 2014

For the firefighters and rescue workers conducting the rescue and cleanup operations at Ground Zero from September 2001 to May 2002, exposure to hazardous airborne particles led to a disturbing "WTC cough"—obstructed ...

New insight into risk of Ankylosing Spondylitis

Dec 09, 2014

Scientists at the University of Southampton have discovered variations in an enzyme belonging to the immune system that leaves individuals susceptible to Ankylosing Spondylitis.

Novel approach to treating asthma: Neutralize the trigger

Dec 03, 2014

Current asthma treatments can alleviate wheezing, coughing and other symptoms felt by millions of Americans every year, but they don't get to the root cause of the condition. Now, for the first time, scientists ...

Inflammatory discovery sheds new light on skin disease

Dec 02, 2014

Inflammatory skin diseases such as psoriasis may result from abnormal activation of cell death pathways previously believed to suppress inflammation, a surprise finding that could help to develop new ways ...

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.