title: CINCA Syndrome.
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.
authors.affiliation: Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Science, Lucknow 226 014, U.P., India.
authors.forename: Chetna
authors.initials: C
authors.lastname: Khemani
authors.forename: Raju
authors.initials: R
authors.lastname: Khubchandani
mesh_terms: D000367:Age Factors; D001168:Arthritis / Q000188:drug therapy* / Q000235:genetics; D001379:Azathioprine / Q000627:therapeutic use; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002908:Chronic Disease; D004890:Erythema / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D005334:Fever / Q000188:drug therapy* / Q000235:genetics; D006801:Humans; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D009422:Nervous System Diseases / Q000188:drug therapy* / Q000235:genetics; D011239:Prednisolone / Q000627:therapeutic use; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D011239:Prednisolone; D001379:Azathioprine