title: New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.
abstract: OBJECTIVE
  Muckle-Wells syndrome (MWS) and familial cold autoinflammatory syndrome (FCAS) are rare periodic fevers associated with CIAS1 mutations. A third entity, the chronic infantile neurological, cutaneous, articular (CINCA) syndrome was also recently associated with mutation in the same gene. A phenotypic and genotypic continuum seems to exist from the most benign (FCAS) to the most severe forms (CINCA). Although a CIAS1 mutation can be associated with two different phenotypes.
  
  
  METHODS
  We report a family of three patients exhibiting the MWS and FCAS phenotypes. These phenotypes were associated with a novel missense mutation in CIAS1.
  
  
  RESULTS
  Anakinra controlled inflammatory flares in the three patients.
  
  
  CONCLUSIONS
  FCAS, MWS and CINCA could be different phenotype expressions of the same disease.
authors.affiliation: Service de Médecine Interne, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Université Paris 13, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Maksimovic
authors.forename: J
authors.initials: J
authors.lastname: Stirnemann
authors.forename: F
authors.initials: F
authors.lastname: Caux
authors.forename: N
authors.initials: N
authors.lastname: Ravet
authors.forename: S
authors.initials: S
authors.lastname: Rouaghe
authors.forename: L
authors.initials: L
authors.lastname: Cuisset
authors.forename: E
authors.initials: E
authors.lastname: Letellier
authors.forename: G
authors.initials: G
authors.lastname: Grateau
authors.forename: A-S
authors.initials: AS
authors.lastname: Morin
authors.forename: O
authors.initials: O
authors.lastname: Fain
mesh_terms: D000293:Adolescent; D000328:Adult; D018771:Arthralgia / Q000235:genetics / Q000276:immunology; D001327:Autoimmune Diseases / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D002352:Carrier Proteins / Q000235:genetics*; D002908:Chronic Disease; D003080:Cold Temperature; D003231:Conjunctivitis / Q000235:genetics / Q000276:immunology; D004252:DNA Mutational Analysis; D005260:Female; D005334:Fever / Q000235:genetics / Q000276:immunology; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010375:Pedigree; D010641:Phenotype; D018570:Risk Assessment; D012720:Severity of Illness Index; D013577:Syndrome; D016896:Treatment Outcome; D014581:Urticaria / Q000235:genetics / Q000276:immunology
chemical_list: D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human