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

İNCECİK F., Balci S., KIŞLA EKİNCİ R. M., Herguner O. M., BİŞGİN A., YILMAZ M.

ANNALS OF INDIAN ACADEMY OF NEUROLOGY, cilt.23, sa.5, ss.699-703, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 5
  • Basım Tarihi: 2020
  • Doi Numarası: 10.4103/aian.aian_469_18
  • Dergi Adı: ANNALS OF INDIAN ACADEMY OF NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, CINAHL, EMBASE, Veterinary Science Database, Directory of Open Access Journals
  • Sayfa Sayıları: ss.699-703
  • Anahtar Kelimeler: Children, clinical heterogeneity, interferonopathies, three prime repair exonuclease 1, mutations, AICARDI-GOUTIERES-SYNDROME, FAMILIAL CHILBLAIN LUPUS, TREX1, ERYTHEMATOSUS, SPECTRUM
  • Çukurova Üniversitesi Adresli: Evet

Özet

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.