Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome

Arthritis Rheum. 2004 Oct;50(10):3329-33. doi: 10.1002/art.20494.

Abstract

Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome is a severe inflammatory disease that recently was associated with mutations in CIAS1. It was hypothesized that these mutations may lead to enhanced inflammatory responses. Herein, we provide evidence that inflammation in the CINCA syndrome is characterized by enhanced interleukin-1beta (IL-1beta) and IL-18 release upon stimulation of blood cells and show that this release is caspase 1 dependent.

Publication types

  • Case Reports

MeSH terms

  • Blood Cells / metabolism
  • Carrier Proteins / genetics
  • Caspase 1 / physiology
  • Child
  • Chronic Disease
  • Female
  • Humans
  • Interleukin-1 / metabolism*
  • Interleukin-18 / metabolism*
  • Joint Diseases / genetics
  • Joint Diseases / physiopathology*
  • Mutation
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Nervous System Diseases / genetics
  • Nervous System Diseases / physiopathology*
  • Skin Diseases / genetics
  • Skin Diseases / physiopathology*
  • Syndrome

Substances

  • Carrier Proteins
  • Interleukin-1
  • Interleukin-18
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human
  • Caspase 1