Identification of coding variants associated with familial systemic lupus erythematosus through whole exome sequencing
Abstract
Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease
characterized by the production of a wide range of autoantibodies directed against selfantigens.
SLE can influence almost any organ system and its appearance and course are
highly varied, ranging from remission to disease flare. SLE demonstrates a variety of
constitutional symptoms, such as the skin, musculoskeletal and mild hematologic
involvement. On the other hand, some patients present with primarily hematologic, renal or
neuropsychiatric manifestations.