Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
Eur J Med Genet
; 60(3): 154-158, 2017 Mar.
Article
em En
| MEDLINE
| ID: mdl-28089741
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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MEDLINE
Assunto principal:
Fosfoproteínas
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Interferon Tipo I
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Doenças Autoimunes do Sistema Nervoso
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Exodesoxirribonucleases
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Mitocôndrias
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Miosite
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Malformações do Sistema Nervoso
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article