Diagnostic dilemma in autoinflammatory disease in two patients: Does the name matter?

GÜLHAN B., Buyukcam A., Touitou I., ÖZEN S.

TURKISH JOURNAL OF PEDIATRICS, vol.55, no.3, pp.315-318, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 3
  • Publication Date: 2013
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.315-318
  • Hacettepe University Affiliated: Yes

Abstract

The systemic autoinflammatory diseases are inflammatory disorders characterized by uncontrolled inflammation of the innate immune system. A common monogenic autoinflammatory disease is familial Mediterranean fever (FMF), associated with mutations in the MEFV gene. Another autoinflammatory disease group is cryopyrin-associated periodic syndromes (CAPS), which are characterized by urticarial rash and mutations of the gene NLRP. Systemic-onset juvenile idiopathic arthritis (soJIA) is classified as a multifactorial autoinflammatory disease.