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NOD2-associated autoinflammatory disease

Tuesday 10 July 2012

NOD2-associated diseases. NAID

Definition: NOD2 is an intracellular microbial sensor of the innate immune system that can act as a potent activator and regulator of inflammation.

Mutations in the gene encoding NOD2 in humans have been associated with Crohn’s disease (CD), Blau syndrome (BS), and early onset sarcoidosis (EOS).

These diseases have in common features of dysregulated inflammation, but have very distinct phenotypes, which have been hypothesized to result from either loss-of-function (CD) or gain-of-function (BS/EOS) mutations.

- early onset sarcoidosis

  • systemic inflammation
  • disseminated granulomatous disease
  • granulomatous arthritis
    • uveitis
    • dermatitis
    • unusual gastrointestinal tract granulomas.


- NOD2-associated Crohn disease
- NOD2-associated Blau syndrome
- NOD2-associated granulomatous arthritis (19479837)

See also

- NOD2 (CARD15)

Open references



- Morphologic and immunohistochemical characterization of granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. Janssen CE, Rose CD, De Hertogh G, Martin TM, Bader Meunier B, Cimaz R, Harjacek M, Quartier P, Ten Cate R, Thomee C, Desmet VJ, Fischer A, Roskams T, Wouters CH. J Allergy Clin Immunol. 2012 Apr;129(4):1076-84. PMID: 22464675

- A new category of autoinflammatory disease associated with NOD2 gene mutations. Yao Q, Zhou L, Cusumano P, Bose N, Piliang M, Jayakar B, Su LC, Shen B. Arthritis Res Ther. 2011;13(5):R148. PMID: 21914217

- NOD2-associated diseases: Bridging innate immunity and autoinflammation. Borzutzky A, Fried A, Chou J, Bonilla FA, Kim S, Dedeoglu F. Clin Immunol. 2010 Mar;134(3):251-61. Epub 2009 May 24. PMID: 19467619