title: Hereditary autoinflammatory syndromes: a Brazilian multicenter study.
abstract: OBJECTIVE
  To evaluate the prevalence of genetic defects in clinically suspected autoinflammatory syndromes (AIS) in a Brazilian multicenter study.
  
  
  METHODS
  The study included 102 patients with a clinical diagnosis of Cryopyrin Associated Periodic Syndromes (CAPS), TNF Receptor Associated Periodic Syndrome (TRAPS), Familial Mediterranean Fever (FMF), Mevalonate Kinase Deficiency (MKD) and Pediatric Granulomatous Arthritis (PGA). One of the five AIS-related genes (NLRP3, TNFRSF1A, MEFV, MVK and NOD2) was evaluated in each patient by direct DNA sequencing, based on the most probable clinical suspect.
  
  
  RESULTS
  Clinical diagnoses of the 102 patients were: CAPS (n = 28), TRAPS (n = 31), FMF (n = 17), MKD (n = 17) and PGA (n = 9). Of them, 27/102 (26 %) had a confirmed genetic diagnosis: 6/28 (21 %) CAPS patients, 7/31 (23 %) TRAPS, 3/17 (18 %) FMF, 3/17 (18 %) MKD and 8/9 (89 %) PGA.
  
  
  CONCLUSIONS
  We have found that approximately one third of the Brazilian patients with a clinical suspicion of AIS have a confirmed genetic diagnosis.
authors.affiliation: Instituto da Criança da FMUSP, Sao Paulo, SP, Brazil. adriaj@uol.com.br
authors.forename: Adriana A
authors.initials: AA
authors.lastname: Jesus
authors.forename: Erika
authors.initials: E
authors.lastname: Fujihira
authors.forename: Mariana
authors.initials: M
authors.lastname: Watase
authors.forename: Maria T
authors.initials: MT
authors.lastname: Terreri
authors.forename: Maria O
authors.initials: MO
authors.lastname: Hilario
authors.forename: Magda
authors.initials: M
authors.lastname: Carneiro-Sampaio
authors.forename: Claudio A
authors.initials: CA
authors.lastname: Len
authors.forename: Sheila K
authors.initials: SK
authors.lastname: Oliveira
authors.forename: Marta C
authors.initials: MC
authors.lastname: Rodrigues
authors.forename: Rosa M
authors.initials: RM
authors.lastname: Pereira
authors.forename: Blanca
authors.initials: B
authors.lastname: Bica
authors.forename: Nilzio A
authors.initials: NA
authors.lastname: Silva
authors.forename: Andre
authors.initials: A
authors.lastname: Cavalcanti
authors.forename: Roberto
authors.initials: R
authors.lastname: Marini
authors.forename: Flavio
authors.initials: F
authors.lastname: Sztajnbok
authors.forename: Maria V
authors.initials: MV
authors.lastname: Quintero
authors.forename: Virginia P
authors.initials: VP
authors.lastname: Ferriani
authors.forename: Dewton
authors.initials: D
authors.lastname: Moraes-Vasconcelos
authors.forename: Clovis A
authors.initials: CA
authors.lastname: Silva
authors.forename: Joao B
authors.initials: JB
authors.lastname: Oliveira
mesh_terms: D001938:Brazil; D002352:Carrier Proteins / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics; D005260:Female; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase