期刊
ORPHANET JOURNAL OF RARE DISEASES
卷 8, 期 -, 页码 -出版社
BMC
DOI: 10.1186/1750-1172-8-2
关键词
Systemic lupus erythematosus; Autoimmunity; Genetic susceptibility; Apoptosis; dsDNA; Disease genes
资金
- Medical Research Council of South Africa
Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease with variable clinical presentation frequently affecting the skin, joints, haemopoietic system, kidneys, lungs and central nervous system. It can be life threatening when major organs are involved. The full pathological and genetic mechanisms of this complex disease are yet to be elucidated; although roles have been described for environmental triggers such as sunlight, drugs and chemicals, and infectious agents. Cellular processes such as inefficient clearing of apoptotic DNA fragments and generation of autoantibodies have been implicated in disease progression. A diverse array of disease-associated genes and microRNA regulatory molecules that are dysregulated through polymorphism and copy number variation have also been identified; and an effect of ethnicity on susceptibility has been described.
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