Immunogenetics of Lupus Erythematosus

Lupus erythematosus (LE) is a heterogeneous disease with a wide range of manifestations ranging from localized lesions in cutaneous lupus erythematosus (CLE) to severe disseminated disease in systemic lupus erythematosus (SLE).Lupus results from a complex interaction between genetic and epigenetic backgrounds and environmental triggers that cause loss of tolerance to self-antigens and the formation of autoantibodies. Genetic susceptibility plays a key role in the pathogenesis of lupus erythematosus. In most cases, multiple common alleles with modest effect sizes are combined to result in the polygenic inheritance of the disease but monogenic variants of lupus have also been described. Genes from the innate and adaptive immune system along with genes involved in apoptosis and immunoglobulin clearance have been linked to SLE. This chapter aims to explore the functions of these genes and their contribution to the pathogenesis of the disease.