title: PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience.
abstract: OBJECTIVE
  Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Although PFAPA is an auto inflammatory disease, it doesn't have genetic basis such as other periodic fevers. This study evaluates the 12 common MEFV gene mutations in patients with PFAPA syndrome.
  
  
  METHODS
  21 patients with PFAPA syndrome who had diagnostic criteria were enrolled in this study and 12 common MEFV gene mutations i.e. P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q evaluated. All the patients were screened for MEFV gene mutations by a reverse hybridization assay (FMF Strip Assay, Vienna lab, Vienna, Austria) according to the instructions provided by the manufacturer. Findings : The age of patients was between 6 months to 14 years, and 15 were males. Seven patients had heterozygote and one had compound heterozygote (K695R, V725A) mutation. There were 4 alleles M694V, 3 alleles V726A, 1 allele E148Q and 1 allele K694R. No significant difference existed between mutated patients with non-mutated in symptoms like aphthous and stomatitis, duration of attacks, episodes of fever and response to treatment. Gaslini score test was not helpful to predict the probability of gene mutations.
  
  
  CONCLUSIONS
  About 30 percent of patients had MEFV gene mutations but these mutations did not play a main role in presentation of PFAPA symptoms.
authors: Department of Pediatric, Ardabil University of Medical Sciences, Ardabil, Iran.
authors: Farhad
authors: F
authors: Salehzadeh
authors: Department of Pediatric, Ardabil University of Medical Sciences, Ardabil, Iran.
authors: Maryam
authors: M
authors: Vahedi
authors: Department of Pediatric, Ardabil University of Medical Sciences, Ardabil, Iran.
authors: Saeid
authors: S
authors: Hosseini-Asl
authors: Department of Pediatric, Ardabil University of Medical Sciences, Ardabil, Iran.
authors: Sepideh
authors: S
authors: Jahangiri
authors: Department of Pediatric, Ardabil University of Medical Sciences, Ardabil, Iran.
authors: Shahram
authors: S
authors: Habibzadeh
authors: Department of Pediatric, Ardabil University of Medical Sciences, Ardabil, Iran.
authors: Mahsa
authors: M
authors: Hosseini-Khotbesara
keywords: Gaslini Score; MEFV Gene; MEFV Gene Mutations; PFAPA