• Linda T Hiraki and Earl D Silverman.
• Division of Rheumatology, SickKids Hospital, SickKids Research Institute, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada; Department of Paediatrics, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada; Epidemiology, Dalla Lana School of Public Health, 155 College Street, Toronto, Ontario M5T 3M7, Canada.
• Rheum. Dis. Clin. North Am. 2017 Aug 1; 43 (3): 415-434.

AbstractSystemic lupus erythematosus (SLE) is a systemic, autoimmune, multisystem disease with a heterogeneous clinical phenotype. Genome-wide association studies have identified multiple susceptibility loci, but these explain a fraction of the estimated heritability. This is partly because within the broad spectrum of SLE are monogenic diseases that tend to cluster in patients with young age of onset, and in families. This article highlights insights into the pathogenesis of SLE provided by these monogenic diseases. It examines genetic causes of complement deficiency, abnormal interferon production, and abnormalities of tolerance, resulting in monogenic SLE with overlapping clinical features, autoantibodies, and shared inflammatory pathways.Copyright © 2017 Elsevier Inc. All rights reserved.

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