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Updated: Aug 15, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
SLE: challenges and candidates in human disease
Jennifer A Croker1, Robert P Kimberly
1Department of Medicine, Division of Clinical Immunology and Rheumatology, The University of Alabama at Birmingham, THT 429, 1530 3rd Avenue South, Birmingham, AL 35294-0006, USA.
Abstract:
Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by immunological hyperactivity and multi-system organ damage. A complex genetic trait involving multiple genes, with both genetic heterogeneity and a threshold effect for disease expression, SLE involves abnormalities of both the innate and adaptive immune systems. Recognition of an 'interferon signature' in SLE leukocytes, of the role of B cells in promoting disease activity, and of FCGR3A alleles as a biomarker of end organ damage, provide important insights into disease pathogenesis. Nonetheless, coordinated studies in humans and model systems hold promise for an even more rapid advance in understanding pathways of disease development and strategies for intervention. More effective markers of disease risk, disease activity, severity of organ damage and outcomes would facilitate earlier diagnosis and guide appropriately targeted treatment.
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