Familial Mediterranean fever patients homozygous for E148Q variant may have milder disease

TOPALOĞLU R., BATU AKAL E. D., Yildiz C., Korkmaz E., ÖZEN S., BEŞBAŞ N., ...More

INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, vol.21, no.10, pp.1857-1862, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 10
  • Publication Date: 2018
  • Doi Number: 10.1111/1756-185x.12929
  • Journal Name: INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1857-1862
  • Keywords: familial Mediterranean fever, E148Q, MEFV gene, variant of unknown significance, MEFV GENE, MUTATION, FREQUENCY, FMF, DIAGNOSIS, COLCHICINE, CRITERIA, CHILDREN, TURKEY, PYRIN
  • Hacettepe University Affiliated: Yes

Abstract

Aim: Familial Mediterranean fever (FMF) results from MEFV gene mutations. E148Q is a variant of unknown significance in MEFV. We aimed to define characteristics of FMF patients homozygous for E148Q, check for other MEFV variants in a subgroup, and compare the characteristics with FMF patients carrying other mutations.