Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.
Lupus
; 22(10): 1064-9, 2013 Sep.
Article
em En
| MEDLINE
| ID: mdl-23918923
ABSTRACT
Aicardi-Goutières syndrome (AGS) is a rare genetic encephalopathy characterized by neurological and extraneurological involvement. A clinical overlap between AGS and systemic lupus erythematosus (SLE) has been reported. We describe an AGS patient who developed autoimmune manifestations thyroiditis, cANCA positivity, antiphospholipid antibodies and cerebral ischemia. This first description of antiphospholipid syndrome in a TREX1-mutated patient further expands the clinical spectrum of AGS. Although the clinical overlap with SLE may indicate common pathogenic mechanisms, the autoimmune manifestations in AGS are so extensive that we suggest they should be considered a clinical feature of the disease, rather than a sign of coexistent SLE.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fosfoproteínas
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Doenças Autoimunes do Sistema Nervoso
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Exodesoxirribonucleases
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Sistema Imunitário
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Mutação
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Malformações do Sistema Nervoso
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Revista:
Lupus
Assunto da revista:
REUMATOLOGIA
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Itália