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- Title
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi–Goutières syndrome/familial chilblain lupus.
- Authors
Abe, Junya; Izawa, Kazushi; Nishikomori, Ryuta; Awaya, Tomonari; Kawai, Tomoki; Yasumi, Takahiro; Hiragi, Naoko; Hiragi, Toru; Ohshima, Yusei; Heike, Toshio
- Abstract
Letter to the editor is presented for the case with variable neurological symptoms in a family with Aicardi-Goutieres syndrome (AGS)/familial chilblain lupus (FCL) which is caused by heterozygous TREX1p.Asp18Asn mutation. AGS is the overproduction of type I IFN which is caused by unprocessed DNA due to reduced TREX1 enzymatic activity. AGS patients have a lower rate of chilblains than those with p.Asp18Asn mutation. It is important that neurological complications in FCL are carefully evaluated.
- Subjects
GENETIC mutation; RESEARCH funding; SYSTEMIC lupus erythematosus; FAMILY history (Medicine)
- Publication
Rheumatology, 2013, Vol 52, Issue 2, p406
- ISSN
1462-0324
- Publication type
Article
- DOI
10.1093/rheumatology/kes181