NOD2/CARD15 gene mutations in patients with familial Mediterranean fever

Yackov Berkun, Amir Karban, Shai Padeh, Elon Pras, Yael Shinar, Merav Lidar, Avi Livneh, Yoram Bujanover

Research output: Contribution to journalArticlepeer-review


Objective: Familial Mediterranean fever (FMF) and Crohn's disease are autoinflammatory disorders, associated with genes (MEFV and NOD2/CARD15, respectively) encoding for regulatory proteins, important in innate immunity, apoptosis, cytokine processing, and inflammation. Although mutations in the MEFV gene were shown to modify Crohn's disease, the role of NOD2/CARD15 gene mutations in the FMF disease phenotype was never studied before. Patients and methods: The cohort consisted of 103 consecutive children with FMF, followed in a single referral center. NOD2/CARD15 genotypes were analyzed in all patients and 299 ethnically matched unaffected controls. Demographic data, clinical characteristics, and disease course of FMF patients with and without NOD2/CARD15 mutation were compared. Results: A single NOD2/CARD15 mutation was detected in 10 (9.7%) FMF patients and 26 (8.7%) controls. No homozygous or compound heterozygous subjects were discovered in the 2 groups. FMF patients carrying a NOD2/CARD15 mutation had a higher rate of erysipelas-like erythema and acute scrotum attacks, a trend for a higher rate of colchicine resistance and a more severe disease as compared with patients without mutations. Conclusions: NOD2/CARD15 mutations are not associated with an increased susceptibility to develop FMF. Nevertheless, the presence of these mutations in FMF patients appears to be associated with a trend to a more severe disease.

Original languageEnglish
Pages (from-to)84-88
Number of pages5
JournalSeminars in Arthritis and Rheumatism
Issue number1
StatePublished - Aug 2012


  • Autoinflammatory
  • Children
  • Familial Mediterranean fever
  • MEFV
  • Mutations
  • NOD2/CARD15
  • Phenotype


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