CINCA Syndrome

Indian Pediatr. 2007 Dec;44(12):933-6.

Abstract

CINCA syndrome is a genetic disorder characterized by early onset of recurrent fever, rash, progressive articular and neurological involvement. We report a 7-year-old girl with CINCA syndrome with an infrequent manifestation of retinal vasculitis and a relative paucity of neurological signs. She had a de novo F309S mutation in exon 3 of CIAS1 gene on chromosome 1. This is the first report of this entity from India.

MeSH terms

  • Age Factors
  • Arthritis / drug therapy*
  • Arthritis / genetics
  • Azathioprine / therapeutic use
  • Carrier Proteins / genetics*
  • Child
  • Chronic Disease
  • Erythema / drug therapy*
  • Erythema / genetics
  • Female
  • Fever / drug therapy*
  • Fever / genetics
  • Humans
  • Mutation
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Nervous System Diseases / drug therapy*
  • Nervous System Diseases / genetics
  • Prednisolone / therapeutic use
  • Syndrome

Substances

  • Carrier Proteins
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human
  • Prednisolone
  • Azathioprine