DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome
ARTHRITIS AND RHEUMATISM, cilt.65, sa.8, ss.2183-2189, 2013 (SCI-Expanded, Scopus)
- 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-Cerrahpaşa Adresli: Hayır
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.