[The etiopathogenesis of SCLE skin lesions is thought to result from four sequential stages: (1) inheritance of susceptibility genes (HLA 8.1 ancestral haplotype [C2, C4 deficiency, TNF-alpha-308A polymorphism], C1q deficiency); (2) loss of tolerance/induction of autoimmunity (ultraviolet light, photosensitizing drugs/chemicals, cigarette smoking, infection, psychological stress); (3) expansion/maturation of autoimmune responses (high levels of autoantibodies (Ro/SS-A), immune complexes, autoreactive T-cells); and (4) tissue injury/disease induction resulting from various autoimmune effector mechanisms (e.g., direct T cell-mediated cytotoxicity, antibody-dependent cell-mediated cytotoxicity).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE