DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome

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

ARTHRITIS AND RHEUMATISM, vol.65, no.8, pp.2183-2189, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 65 Issue: 8
  • Publication Date: 2013
  • Doi Number: 10.1002/art.38010
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.2183-2189
  • Istanbul University Affiliated: Yes


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.