Different clinical manifestations of three prime repair exonuclease 1 mutation: A case series

• Main Authors: Faruk Incecik, Sibel Balci, Rabia Miray Kisla Ekinci, Ozlem M Herguner, Atil Bisgin, Mustafa Yilmaz
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2020-01-01
• Series: Annals of Indian Academy of Neurology
• Subjects: children; clinical heterogeneity; interferonopathies; three prime repair exonuclease 1; mutations
• Online Access: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=5;spage=699;epage=703;aulast=
• ISSN: 0972-2327; 1998-3549

Three prime repair exonuclease 1 (TREX1) degrades single- and double-stranded DNA with 3’-5’ exonuclease activity. TREX1 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 TREX1 mutations have been reported, so far. In this report, we described five patients with TREX1 mutations from three families with three different disorders, which include AGS, FCL, and FCL with central nervous system vasculitis.