Systemic lupus erythematosus: multiple immunological phenotypes in a complex genetic disease.

摘要: Abstract Systemic lupus erythematosus (SLE) is a complex polygenic autoimmune disease characterized by the presence of anti‐nuclear autoantibodies (ANAs) that are often detectable years prior to onset clinical disease. The associated with chronic activation immune system, most severe forms progressing inflammatory damage can impact multiple organ systems in afflicted individuals. Current therapeutic strategies poorly control manifestations and generally immunosuppressive. Recent studies human patient populations animal models have elements innate system abnormalities immature B lymphocyte receptor repertoires initiation. A variety cytokines, notably type I interferons, play important roles pathogenesis effector mechanisms. genetic basis for susceptibility complex, analyses humans mice identified loci, several which located genomic regions syntenic between mice. complexities interactions mediate been investigated murine model characterizing progressive development strains expressing various combinations alleles. These indicate epistasis dramatically support feasibility identifying molecular pathways suppress progression without completely impairing normal function.