Monogenic Lupus: A Developing Paradigm of Disease

• Main Authors: Jessie M. Alperin, Lourdes Ortiz-Fernández, Amr H. Sawalha
• Format: Article
• Language: English
• Published: Frontiers Media S.A. 2018-10-01
• Series: Frontiers in Immunology
• Subjects: lupus; monogenic; familial; genetic; mendelian
• Online Access: https://www.frontiersin.org/article/10.3389/fimmu.2018.02496/full

Monogenic lupus is a form of systemic lupus erythematosus (SLE) that occurs in patients with a single gene defect. This rare variant of lupus generally presents with early onset severe disease, especially affecting the kidneys and central nervous system. To date, a significant number of genes have been implicated in monogenic lupus, providing valuable insights into a very complex disease process. Throughout this review, we will summarize the genes reported to be associated with monogenic lupus or lupus-like diseases, and the pathogenic mechanisms affected by the mutations involved upon inducing autoimmunity.