TREX1 c.590C>T variant as a cause of monogenic systemic lupus erythematosus in a 10-year-old girl: case report

Abstract

Juvenile systemic lupus erythematosus is a chronic, autoimmune, and multisystemic disease that affects individuals under 18 years of age. Its early onset suggests a strong genetic relationship, with identified genetic variants causing monogenic systemic lupus erythematosus. The case of a 10-year-old patient with juvenile systemic lupus erythematosus is reported, presenting atypically, severely, and with failure to respond to standard treatment, in whom a variant in the TREX1 gene c.590C>T, p.Ala197Val was identified. TREX1 variants represent up to 2% of systemic lupus erythematosus cases and should be considered in children with early onset, atypical, and severe presentation.