Rare Diseases Symptoms Automatic Extraction

Increased prevalence of MEFV exon 10 variants in Japanese patients with adult onset Still's disease.

[familial mediterranean fever]

Autoinflammatory diseases include a large spectrum of monogenic diseases, e.g. familial Mediterranean fever (FMF), as well as complex genetic trait diseases e.g. adult onset Still's disease (AOSD). In populations where FMF is common, an increased MEFV mutation rate is found in patients with rheumatic diseases. The aim of this study was to examine MEFV mutations in Japanese patients with AOSD. Genomic DNA was isolated from 49 AOSD patients and 105 healthy controls, and exons 1, 2, 3, and 10 of the MEFV gene genotyped by direct sequencing. MEFV mutation frequencies in AOSD patients were compared with controls. We found no significant difference in overall allele frequencies of MEFV variants between AOSD patients and controls. However, MEFV exon 10 variants (M694I and G632S) were significantly higher in AOSD patients than controls (6.1% versus 0%). In addition, there was no significant difference between MEFV variant carriers and non-carriers with clinical manifestations, but the monocyclic clinical course of the AOSD disease phenotype was less frequently observed in patients without MEFV variants. AOSD patients had significantly higher frequencies of MEFV exon 10 mutations, suggesting that low-frequency variants of MEFV gene may be one of the susceptibility factors of AOSD.

Diseases presenting "fever" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • canavan disease
  • carcinoma of the gallbladder
  • child syndrome
  • congenital toxoplasmosis
  • cushing syndrome
  • cystinuria
  • dracunculiasis
  • erdheim-chester disease
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • familial mediterranean fever
  • focal myositis
  • hodgkin lymphoma, classical
  • lamellar ichthyosis
  • legionellosis
  • locked-in syndrome
  • malignant atrophic papulosis
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • papillon-lefèvre syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • triple a syndrome
  • typhoid
  • waldenström macroglobulinemia
  • wolf-hirschhorn syndrome

This symptom has already been validated