DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome

• Published in: Arthritis & rheumatology (Hoboken, N.J.) Vol. 65; no. 8; pp. 2183 - 2189
• Main Authors: Özçakar, Z. Birsin, Foster, Joseph, Diaz‐Horta, Oscar, Kasapcopur, Ozgur, Fan, Yao‐Shan, Yalçınkaya, Fatoş, Tekin, Mustafa
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.08.2013
• Subjects: Age of Onset; Autoimmune diseases; Child; Child, Preschool; Complement System Proteins - deficiency; DNA Mutational Analysis; Endodeoxyribonucleases - genetics; Female; Genes, Recessive; Humans; Immune System Diseases - diagnosis; Immune System Diseases - genetics; Immune System Diseases - immunology; Male; Mutation; Pathogenesis; Urticaria - diagnosis; Urticaria - genetics; Urticaria - immunology; Vasculitis - diagnosis; Vasculitis - genetics; Vasculitis - immunology

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 t...