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NOD2/CARD15 gene mutations in patients with familial Mediterranean fever

Yackov Berkun1, Amir Karban, Shai Padeh

  • 1Department of Pediatrics and Pediatric Rheumatology, Hadassah Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel. berkun@post.tau.ac.il

Seminars in Arthritis and Rheumatism
|January 17, 2012
PubMed
Abstract

Insights

Mutations in the NOD2/CARD15 gene do not increase the risk of developing Familial Mediterranean Fever (FMF). However, in FMF patients, these mutations may indicate a more severe disease course.

Area of Science:

  • Genetics and Immunology
  • Autoinflammatory Diseases

Background:

  • Familial Mediterranean Fever (FMF) and Crohn's disease are autoinflammatory disorders linked to specific genes.
  • MEFV and NOD2/CARD15 genes encode proteins crucial for innate immunity, apoptosis, and inflammation.
  • While MEFV mutations affect Crohn's disease, the impact of NOD2/CARD15 on FMF was unexplored.

Purpose of the Study:

  • To investigate the role of NOD2/CARD15 gene mutations in the phenotype of Familial Mediterranean Fever.
  • To determine if NOD2/CARD15 mutations influence FMF disease severity or clinical presentation.

Main Methods:

  • Genotyping for NOD2/CARD15 mutations in 103 pediatric FMF patients and 299 controls.
  • Comparison of demographic, clinical, and disease course data between FMF patients with and without NOD2/CARD15 mutations.

Main Results:

  • NOD2/CARD15 mutations were found in 9.7% of FMF patients and 8.7% of controls, with no significant difference in susceptibility.
  • FMF patients with NOD2/CARD15 mutations showed a higher incidence of erysipelas-like erythema and acute scrotum.
  • A trend towards increased colchicine resistance and overall disease severity was observed in FMF patients with NOD2/CARD15 mutations.

Conclusions:

  • NOD2/CARD15 mutations do not predispose individuals to developing FMF.
  • The presence of NOD2/CARD15 mutations in FMF patients is associated with a tendency towards a more severe disease phenotype.

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