New autoinflammatory disease linked to NOD2 mutations ID'd

November 2, 2012
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.

Explore further: Researchers pinpoint role of key proteins in Crohn's Disease

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

Related Stories

Researchers pinpoint role of key proteins in Crohn's Disease

June 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 ...

Filaggrin mutations up risk of irritant contact dermatitis

October 14, 2012
(HealthDay)—Both atopic dermatitis (AD) and loss-of-function mutations in the filaggrin gene (FLG) are independently associated with an increased risk of developing chronic irritant contact dermatitis (ICD), with people ...

Recommended for you

Breathing exercises help asthma patients with quality of life

December 13, 2017
A study led by the University of Southampton has found that people who continue to get problems from their asthma, despite receiving standard treatment, experience an improved quality of life when they are taught breathing ...

Study highlights the need for research into prevention of inflammatory bowel disease

December 7, 2017
Countries in Africa, Asia, the Middle East and South America have seen a rise in incidence of inflammatory bowel disease as they have become increasingly industrialised and westernised, a new study has found.

Air pollution can increase asthma risk in adults, even at low levels

November 24, 2017
Living close to a busy road can be bad for your respiratory health if you are middle aged, new Australian research has found.

Evidence found of oral bacteria contributing to bowel disorders

October 20, 2017
(Medical Xpress)—An international team of researchers has found evidence that suggests certain types of oral bacteria may cause or exacerbate bowel disorders. In their paper published in the journal Science, the group describes ...

New compound discovered in fight against inflammatory disease

September 22, 2017
A 10-year study by University of Manchester scientists for a new chemical compound that is able to block a key component in inflammatory illness has ended in success.

Asthma researchers test substance from coralberry leaves

September 14, 2017
The coralberry could offer new hope for asthmatics. Researchers at the University of Bonn have extracted an active pharmaceutical ingredient from its leaves to combat asthma, a widespread respiratory disease. In mice, it ...

0 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.