DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome

Ozcakar Z. B., Foster J., Diaz-Horta O., Kasapcopur O., Fan Y., Yalcinkaya F., ...Daha Fazla

ARTHRITIS AND RHEUMATISM, cilt.65, sa.8, ss.2183-2189, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 65 Sayı: 8
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1002/art.38010
  • Dergi Adı: ARTHRITIS AND RHEUMATISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2183-2189
  • İstanbul Üniversitesi Adresli: Evet

Özet

Objective. Hypocomplementemic urticarial vasculitis syndrome (HUVS) is characterized by recurrent urticaria along with dermal vasculitis, arthritis, and glomerulonephritis. Systemic lupus erythematosus (SLE) develops in >50% of patients with HUVS, although the pathogenesis is unknown. The aim of this study was to identify the causative DNA mutations in 2 families with autosomal-recessive HUVS, in order to reveal the pathogenesis and facilitate the laboratory diagnosis.