Systemic Lupus Erythematosus (SLE) is a systemic inflammatory autoimmune disease characterized by the production of auto-antibodies (such as anti-nuclear antibodies). Patients may present with a diverse array of different clinical manifestations including skin, joint, hematologic, neurologic, renal and other organ involvement. SLE is predominantly a female disease, affecting females and males in a ratio of 9:1. Onset in women is usually between puberty and menopause, while onset outside this range is less common. The exact etiology of SLE is unknown, though it is thought to have a genetic component as well as environmental and hormonal components.

Clinical Utility

The genetic component of SLE is supported by twin and family studies. Population studies have revealed that susceptibility to SLE is associated with HLA DRB1*03:01. Individuals homozygous for DRB1*03:01 or compound heterozygous for DRB1*03:01 and DRB1*15:01 carry the highest risk. Genetic testing for SLE has significant clinical relevance in supporting efforts to more fully characterize the etiology and pathway of development of SLE. This may lead to improved diagnostic and prognostic tools.

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