DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome
Date
2013Author
Fan, Yao-Shan
Kasapcopur, Ozgur
Diaz-Horta, Oscar
Yalcinkaya, Fatos
Tekin, Mustafa
Ozcakar, Z. Birsin
Foster, Joseph
Metadata
Show full item recordAbstract
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.
Collections
- Makale [92796]