title: Could familial Mediterranean fever gene mutations be related to PFAPA syndrome?
abstract: BACKGROUND
  The cause and pathophysiology of PFAPA syndrome is unknown. The aim of this study was to determine all MEFV gene variants relevant to familial Mediterranean fever in children with PFAPA syndrome.
  
  
  METHODS
  All MEFV gene variants were analyzed in patients with PFAPA syndrome. All patients were evaluated using the Gaslini scoring system. Serum immunoglobulin levels were also determined upon admission.
  
  
  RESULTS
  We evaluated 64 patients with PFAPA syndrome. The median age at diagnosis was 37.5 (min-max: 6-96) months, and the percentage of male patients was 55.0%. The Gaslini diagnostic score for periodic fever was high in 81.0% of the patients. An MEFV gene mutation was found in 42 (66.0%) children. Mostly, heterozygous or compound heterozygous variants of the MEFV gene were found. Two patients were homozygous for R202Q. MEFV gene mutations were not detected in 22 (34.0%) patients. No significant differences in clinical or laboratory findings were observed between the two groups (p > 0.05), and there were no significant differences in period and duration of the fever episodes (p > 0.05). The fever of all 47 patients (100.0%) who received prednisolone during the episodes decreased within hours and did not recur. Eighteen of the patients using prednisolone underwent prophylaxis with colchicine, and the fever episodes of 9/18 (50.0%) patients using colchicine decreased within months.
  
  
  CONCLUSIONS
  Most patients presenting with PFAPA syndrome have heterozygous MEFV gene mutations. Whether carrying a heterozygous MEFV gene is the primary cause of this syndrome requires further investigation.
authors.affiliation: Department of Pediatrics, Division of Pediatric Allergy and Immunology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
authors.forename: Mehmet H
authors.initials: MH
authors.lastname: Celiksoy
authors.affiliation: Department of Genetic Disease, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
authors.forename: Gonul
authors.initials: G
authors.lastname: Ogur
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
authors.forename: Elif
authors.initials: E
authors.lastname: Yaman
authors.affiliation: Department of Genetic Disease, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
authors.forename: Ummet
authors.initials: U
authors.lastname: Abur
authors.affiliation: Department of Genetic Disease, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
authors.forename: Semanur
authors.initials: S
authors.lastname: Fazla
authors.affiliation: Department of Pediatrics, Division of Pediatric Allergy and Immunology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
authors.forename: Recep
authors.initials: R
authors.lastname: Sancak
authors.affiliation: Department of Pediatrics, Division of Pediatric Allergy and Immunology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
authors.forename: Alisan
authors.initials: A
authors.lastname: Yildiran
mesh_terms: D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D015415:Biomarkers / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003078:Colchicine / Q000627:therapeutic use; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005938:Glucocorticoids / Q000627:therapeutic use; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood; D007223:Infant; D008199:Lymphadenitis / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D009154:Mutation; D010612:Pharyngitis / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D010641:Phenotype; D011239:Prednisolone / Q000627:therapeutic use; D000071198:Pyrin; D012189:Retrospective Studies; D012307:Risk Factors; D013281:Stomatitis, Aphthous / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D013577:Syndrome; D016896:Treatment Outcome
chemical_list: D000893:Anti-Inflammatory Agents; D015415:Biomarkers; D003598:Cytoskeletal Proteins; D005938:Glucocorticoids; D007074:Immunoglobulin G; C000604192:MEFV protein, human; D000071198:Pyrin; D011239:Prednisolone; D003078:Colchicine
keywords: MEFV; PFAPA syndrome; children; hypogammaglobulinemia