Pseudodominance of autoinflammatory disease in a single Turkish family explained by co-inheritance of haploinsufficiency of A20 and familial Mediterranean fever

Horita N., Gul A., Aksentijevich I., Kastner D. L., Remmers E. F.

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, cilt.37, sa.6, ss.89-92, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 6
  • Basım Tarihi: 2019
  • Dergi Adı: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.89-92
  • Anahtar Kelimeler: familial Mediterranean fever, Behcet's disease, TNFAIP3, A20, haploinsufficiency of A20, BEHCETS-DISEASE, MEFV, GENE, ASSOCIATION, MUTATIONS, DIAGNOSIS, CRITERIA, FMF
  • İstanbul Üniversitesi Adresli: Evet

Özet

Objective. We investigated a Turkish family with multiple patients presenting with familial Mediterranean fever (FMF) and Behcet's disease (BD)-like manifestations. The index case and the two daughters with Behcet-like disease, were previously found to have a TNFAIP3 frameshift mutation. The high number of affected cases in this expanded family could be consistent with a dominantly inherited inflammatory disease, although some individuals had clinical features more consistent with recessively inherited FMF. We sequenced DNA from members of this family to determine whether the TNFAIP3 frameshift mutation and/or MEFV variants could explain this auto-inflammatory disease pedigree.