Different Clinical Manifestations of Three Prime Repair Exonuclease 1 Mutation: A Case Series.

Three prime repair exonuclease 1 () degrades single- and double-stranded DNA with 3'-5' exonuclease activity. mutations are related to type 1 interferon-mediated autoinflammation owing to accumulated intracellular nucleic acids. Several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome (AGS), familial chilblain lupus (FCL), and retinal vasculopathy-cerebral leukodystrophy caused by mutations have been reported, so far. In this report, we described five patients with mutations from three families with three different disorders, which include AGS, FCL, and FCL with central nervous system vasculitis.