Deficiency of Complement 1r subcomponent in early ‐onset SLE: Role for disease‐modifying alleles in a monogenic disease

Conclusion: We report a novel high‐penetrance mutation in C1R as the cause of monogenic SLE. Disease expressivity in this family appears to be influenced by additional common and rare genetic variants. This article is protected by copyright. All rights reserved.

Source: Arthritis and Rheumatism - May 23, 2017 Category: Rheumatology Authors: Erkan Demirkaya, Qing Zhou, Carolyne K. Smith, Michael J. Ombrello, Natalie Deuitch, Wanxia L. Tsai, Patrycja Hoffmann, Elaine F. Remmers, Masaki Takeuchi, Yong Hwan Park, JaeJin Chae, Kenan Barut, Dogan Simsek, Amra Adrovic, Sezgin Sahin, Salim Caliskan, Tags: Brief Report Source Type: research