Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

Détails

ID Serval
serval:BIB_0DE163527E7F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
Périodique
European Journal of Medical Genetics
Auteur(s)
Tumienė B., Voisin N., Preikšaitienė E., Petroška D., Grikinienė J., Samaitienė R., Utkus A., Reymond A., Kučinskas V.
ISSN
1878-0849 (Electronic)
ISSN-L
1769-7212
Statut éditorial
Publié
Date de publication
2017
Peer-reviewed
Oui
Volume
60
Numéro
3
Pages
154-158
Langue
anglais
Résumé
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.

Mots-clé
Autoimmune Diseases of the Nervous System/genetics, Autoimmune Diseases of the Nervous System/pathology, Base Sequence, Child, DNA, Mitochondrial/genetics, Exodeoxyribonucleases/genetics, Female, Genetic Predisposition to Disease, Humans, Interferon Type I/immunology, Mitochondria/genetics, Mitochondria/pathology, Myositis/pathology, Nervous System Malformations/genetics, Nervous System Malformations/pathology, Phosphoproteins/genetics, Sequence Analysis, DNA
Pubmed
Web of science
Création de la notice
24/01/2017 19:27
Dernière modification de la notice
03/03/2018 13:41
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