Pediatric Rheumatology

, 9:P291 | Cite as

NOD2/CARD 15 gene mutations in patients with Familial Mediterranean Fever

  • Y Berkun
  • A Karban
  • S Padeh
  • Y Shinar
  • E Pras
  • M Lidar
  • A Livneh
  • Y Bujanover
Open Access
Poster presentation
  • 578 Downloads

Keywords

Gene Mutation Colchicine Innate Immunity Familial Mediterranean Fever Referral Center 

Background

Familial Mediterranean fever (FMF) and Crohn’s disease (CD) are autoinflammatory disorders, associated with genes (MEFV and NOD2/CARD15), encoding for regulatory proteins, important in innate immunity, apoptosis, cytokine processing and inflammation. While mutations in the MEFV gene were shown to modify CD, the role of NOD2/CARD 15 gene mutations in the FMF disease phenotype was never studied before.

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/CARD 15 mutation were compared.

Results

A single NOD2/CARD 15 mutation was detected in 10 (9.7%) FMF patients and 26 (8.7%) of controls. No homozygotes or compound heterozygotes were discovered in the 2 groups. FMF patients carrying a NOD2/CARD 15 mutation had higher rate of erysipelas-like erythema and acute scrotum attacks and a trend for higher rate of colchicine resistence and a more severe disease as compared to patients without mutations.

Conclusion

NOD2/CARD 15 mutations are not associated with a susceptibility to develop FMF, yet the presence of these mutations in FMF patients appears to be associated with a trend to a more severe disease.

Copyright information

© Berkun et al; licensee BioMed Central Ltd. 2011

This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Authors and Affiliations

  • Y Berkun
    • 1
  • A Karban
    • 1
  • S Padeh
    • 1
  • Y Shinar
    • 1
  • E Pras
    • 1
  • M Lidar
    • 1
  • A Livneh
    • 1
  • Y Bujanover
    • 1
  1. 1.Department of Pediatrics A and Pediatric Rheumatology, Edmond & Lily Safra Children’s Hospital, Chaim Sheba Medical Center, Tel Hashomer, Sackler School of MedicineTel Aviv UniversityTel AvivIsrael

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