title: Familial case of Blau syndrome associated with a CARD15/NOD2 mutation.
abstract: OBJECTIVE
  Blau syndrome is a rare autosomal dominant disorder characterized by early onset granulomatous arthritis, uveitis, skin rash and camptodactyly. We report a familial case of Blau syndrome associated with a CARD15/NOD2 mutation.
  
  
  METHODS
  PCR amplification and automated DNA sequencing of the complete CARD15/NOD2 coding sequence was performed.
  
  
  RESULTS
  Molecular analysis in affected subjects disclosed a heterozygous c.1147G>C point mutation in CARD15/NOD2 exon 4, that predicts a p.E383K change at the protein level.
  
  
  CONCLUSIONS
  Blau syndrome should be considered in the differential diagnosis of childhood uveitis and the genetic analysis of the CARD15/NOD2 gene is helpful in the diagnosis.
authors.affiliation: Asociación para Evitar la Ceguera en México, Genetics, México City, Mexico. villanuevacristina@hotmail.com
authors.forename: Cristina
authors.initials: C
authors.lastname: Villanueva-Mendoza
authors.forename: Lourdes
authors.initials: L
authors.lastname: Arellanes-García
authors.forename: Victoria
authors.initials: V
authors.lastname: Cubas-Lorenzo
authors.forename: Maria C
authors.initials: MC
authors.lastname: Jimenez-Martinez
authors.forename: Luis Felipe
authors.initials: LF
authors.lastname: Flores-Suárez
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Zenteno
mesh_terms: D000328:Adult; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D005076:Exanthema / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007592:Joint Diseases / Q000235:genetics*; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012008:Recurrence; D013577:Syndrome; D014606:Uveitis, Anterior / Q000235:genetics*; D055815:Young Adult
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein