NOD2 Mutations Can Be a Cause of Inflammatory Dermatoses

Researchers describe the characteristics of a newly recognized disease.

Autoinflammatory diseases are characterized by episodic fever, polyarthralgias, and other systemic signs and symptoms, but without evidence of autoantibodies or T-cell abnormalities. Among the best-characterized autoinflammatory diseases are familial Mediterranean fever, Muckle-Wells syndrome, neonatal-onset multisystem inflammatory disease (NOMID), deficiency in interleukin-1-receptor antagonist (DIRA), and synovitis acne pustulosis hyperostosis osteitis (SAPHO) syndrome. Skin rashes are a prominent symptom of many of these conditions, usually in the form of atypical urticarial rashes or acneiform and pustular lesions. Recently, a new autoinflammatory disease associated with nucleotide-binding oligomerization domain 2 (NOD2)-associated gen…

Reviewing Author

Craig A. Elmets, MD

Disclosures

Consultant / Advisory board Astellas Pharmaceuticals

EquityVaxin

Grant / Research support NIH; NIH/NCI; Veteran’s Administration; Ferndale Laboratories; Kyowa Hakko Kirin Pharma, Inc.

Editorial boards Cancer Prevention Research; Photodermatology, Photoimmunology, & Photomedicine; UpToDate; eMedicine; Journal of Dermatological Sciences; JAMA Dermatology

Leadership positions in professional societies American Academy of Dermatology (Vice Chair, Committee on Science and Research); Photomedicine Society (Board of Directors)