A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis.
Eur J Med Genet 2017 Sep 13. Epub 2017 Sep 13.
Department of Pediatric Rheumatology, Cukurova University Faculty of Medicine, Adana, Turkey. Electronic address:
Three prime repair exonuclease 1 degrades single and double stranded DNA with 3'-5' nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due to accumulated intracellular nucleic acids. To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations. Chilblain lupus is a skin disease characterized by blue-reddish coloring, swelling or ulcers on acral regions of body such as fingertips, heels, nose and auricles. Read More