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Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

Authors
  • Tumienė, Birutė1
  • Voisin, Norine2
  • Preikšaitienė, Eglė3
  • Petroška, Donatas4
  • Grikinienė, Jurgita5
  • Samaitienė, Rūta5
  • Utkus, Algirdas3
  • Reymond, Alexandre2
  • Kučinskas, Vaidutis3
  • 1 Department of Human and Medical Genetics, Centre for Medical Genetics, Vilnius University, Vilnius, Lithuania. Electronic address: [email protected] , (Lithuania)
  • 2 Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland. , (Switzerland)
  • 3 Department of Human and Medical Genetics, Centre for Medical Genetics, Vilnius University, Vilnius, Lithuania. , (Lithuania)
  • 4 Department of Pathology, Forensic Medicine and Pharmacology, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; National Centre of Pathology, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania. , (Lithuania)
  • 5 Clinic of Children's Diseases, Faculty of Medicine, Vilnius University, Vilnius, Lithuania. , (Lithuania)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Mar 01, 2017
Volume
60
Issue
3
Pages
154–158
Identifiers
DOI: 10.1016/j.ejmg.2016.12.004
PMID: 28089741
Source
Medline
Keywords
License
Unknown

Abstract

Aicardi-Goutières syndrome (AGS) is an inflammatory disorder belonging to the recently characterized group of type I interferonopathies. The most consistently affected tissues in AGS are the central nervous system and skin, but various organ systems and tissues have been reported to be affected, pointing to the systemic nature of the disease. Here we describe a patient with AGS due to a homozygous p.Arg114His mutation in the TREX1 gene. The histologically proven inflammatory myopathy in our patient expands the range of clinical features of AGS. Histological signs of muscle biopsies in the proband, and in two other AGS patients described earlier, are similar to those seen in various autoimmune myositises and could be ascribed to inapproapriate IFN I activation. In view of signs of possible mitochondrial damage in AGS, we propose that mitochondrial DNA could be a trigger of autoimmune responses in AGS.

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