New autoinflammatory disease linked to NOD2 mutations ID'd

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 phenotypes 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, gastrointestinal symptoms 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.

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Journal reference: Journal of the American Academy of Dermatology

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