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Background The spectrum of clinical manifestations associated with mutations of the TREX1 gene (a major human 3’-5’ exonuclease which is an essential negative regulator of autoimmunity) includes systemic lupus erythematosus, FCL, AGS and retinal vasculopathy with cerebral leukodystrophy.

Phenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with TREX1 mutation in 4 family members