Annals of Indian Academy of Neurology
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Different clinical manifestations of three prime repair exonuclease 1 mutation: A case series


1 Department of Pediatric Neurology, AGENTEM, Cukurova University Faculty of Medicine, Adana, Turkey
2 Department of Pediatric Immunology, AGENTEM, Cukurova University Faculty of Medicine, Adana, Turkey
3 Department of Medical Genetics, AGENTEM, Cukurova University Faculty of Medicine, Adana, Turkey

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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_469_18

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.


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    -  Incecik F
    -  Balci S
    -  Kisla Ekinci RM
    -  Herguner OM
    -  Bisgin A
    -  Yilmaz M
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