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Case Reports
. 2020 Sep-Oct;23(5):699-703.
doi: 10.4103/aian.AIAN_469_18. Epub 2020 Dec 8.

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

Faruk Incecik  1 , Sibel Balci  2 , Rabia Miray Kisla Ekinci  2 , Ozlem M Herguner  1 , Atil Bisgin  3 , Mustafa Yilmaz  2
Affiliations
Case Reports

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

Faruk Incecik et al. Ann Indian Acad Neurol. 2020 Sep-Oct.

Abstract

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.

Keywords: Children; clinical heterogeneity; interferonopathies; mutations; three prime repair exonuclease 1.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Cranial computed tomography showed cerebral calcification in predominantly periventricular white matter and basal ganglia
Figure 2
Figure 2
The brain magnetic resonance imaging revealed brain atrophy and demyelination of the white matter
Figure 3
Figure 3
Crusted wounds on fingers and chilblains on foot sole
See this image and copyright information in PMC

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