Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF

Karacan I., UĞURLU S. Y., Tolun A., Turanli E., Ozdogan H.

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, cilt.35, sa.6, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 6
  • Basım Tarihi: 2017
  • Dergi Adı: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: autoinflammation, familial Mediterranean fever, hyper IgD syndrome, tumour necrosis factor receptor-associated periodic syndrome, MEFV, MVK, TNFRSF1A, HYPER-IGD SYNDROME, PERIODIC SYNDROME TRAPS, MEVALONATE KINASE-DEFICIENCY, HYPERIMMUNOGLOBULINEMIA D SYNDROME, MEDITERRANEAN FEVER FMF, OF-THE-LITERATURE, TNF RECEPTOR, MISSENSE MUTATIONS, SEQUENCING DATA, SYNDROME HIDS
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

Objective. No MEFV mutations are detected in approximately 10% of the patients with clinical FMF in populations where the disease is highly prevalent. Causative mutations were searched in other genes in two such families with "MEFV negative clinical FMF".