Journal
RHEUMATIC DISEASE CLINICS OF NORTH AMERICA
Volume 43, Issue 3, Pages 415-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.rdc.2017.04.005
Keywords
Genetics; Systemic lupus erythematosus; Monogenic diseases; Interferonopathies; DNA sensing; RNA sensing; Complement deficiency
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Systemic lupus erythematosus (SLE) is a systemic, autoimmune, multi system 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 in-sights 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 mono genic SLE with overlapping clinical features, autoantibodies, and shared inflammatory pathways.
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