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

Autor:	Faruk Incecik, Sibel Balci, Rabia Miray Kisla Ekinci, Ozlem M Herguner, Atil Bisgin, Mustafa Yilmaz
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	children clinical heterogeneity interferonopathies three prime repair exonuclease 1 mutations Neurology. Diseases of the nervous system RC346-429
Zdroj:	Annals of Indian Academy of Neurology, Vol 23, Iss 5, Pp 699-703 (2020)
Druh dokumentu:	article
ISSN:	0972-2327 1998-3549
DOI:	10.4103/aian.AIAN_469_18
Popis:	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.
Databáze:	Directory of Open Access Journals
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