Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations

Qingping Yao, Le Chu Su, Kenneth J. Tomecki, Lan Zhou, Bijal Jayakar, Bo Shen

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Objectives: We sought to characterize a new category of autoinflammatory disease associated with nucleotide-binding oligomerization domain 2 (NOD2) gene mutations. Methods: A total of 22 patients were identified, inclusive of those reported previously. All had autoinflammatory phenotypes and NOD2 gene mutations that were prospectively studied between January 2009 and February 2012. Results: All 22 patients were non-Jewish whites (13 women and 9 men). The mean age at diagnosis was 40.1 years (range 17-72), with a mean disease duration of 4.7 years (range 1-13). Three female patients were siblings. Common clinical features were weight loss (13/22), episodic self-limiting fever (13/22), dermatitis (19/22), and inflammatory polyarthritis/polyarthralgia (20/22). Gastrointestinal symptoms occurred in 13 patients, sicca-like symptoms in 9, and recurrent chest pain in 5. All patients carried the NOD2 gene mutations, with the intervening sequence 8+158 variant in 21 and the R702W variant in 8. Limitations: The NOD2 allelic frequency may need to be examined in a larger population with systemic autoimmune diseases. Conclusions: 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.

Original languageEnglish (US)
Pages (from-to)624-631
Number of pages8
JournalJournal of the American Academy of Dermatology
Issue number4
StatePublished - 2013


  • Blau syndrome
  • Crohn's disease
  • NOD2 gene mutation
  • NOD2-associated autoinflammatory disease
  • R702W
  • dermatitis
  • intervening sequence 8

ASJC Scopus subject areas

  • Dermatology


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