[Monogenic systemic lupus erythematosus].

Systemic lupus erythematosus (SLE) is a rare autoimmune disease, which is more severe in case of pediatric onset. This may be due to greater involvement of genetic factors in comparison to adult forms. SLE is a multifactorial disease and is thought to be secondary to a combination of genetic, environmental factors as well as immunological defects. Studies on early-onset SLE and both familial and syndromic cases have led to the discovery of monogenic form of SLE, with autosomal or recessive inheritance. Related genes are responsible for complement deficiency and excessive production of interferon-alpha, both mechanisms studied in SLE pathogenesis. Apoptosis defect described in autoimmunity and lymphoproliferation syndromes is the human counterpart of lpr/lpr mouse model, deeply investigated as a murine SLE model. In this review, we discuss all monogenic Mendelian forms of SLE and underline the impact of this gene discovery on better understanding of SLE pathogenesis.