Monogenic forms of systemic lupus erythematosus: new insights into SLE pathogenesis
1 Pediatric nephrology and rheumatology Unit, Hôpital Femme Mère Enfant, Lyon, Bron, Université de Lyon, Lyon, CNRS UMR5239, France
2 Rheumatology Unit, Anna Meyer Children's Hospital, University of Florence, Florence, Italy
Pediatric Rheumatology 2012, 10:21 doi:10.1186/1546-0096-10-21Published: 10 August 2012
The pathogenesis of Systemic Lupus Erythematosus (SLE) is complex and remains poorly understood. Infectious triggers, genetic background, immunological abnormalities and environmental factors are all supposed to interact for the disease development. Familial SLE as well as early-onset juvenile SLE studies make it possible to identify monogenic causes of SLE. Identification of these rare inherited conditions is of great interest to understand both SLE pathogenesis and molecular human tolerance mechanisms. Complement deficiencies, genetic overproduction of interferon-α and apoptosis defects are the main situations that can lead to monogenic SLE.
Here, we review the different genes involved in monogenic SLE and highlight their importance in SLE pathogenesis.