[Type I interferonopathies]. / Interféronopathies de type I.
Ann Dermatol Venereol
; 142(11): 653-63, 2015 Nov.
Article
em Fr
| MEDLINE
| ID: mdl-26363997
ABSTRACT
Type I interferonopathies are a group of Mendelian disorders characterized by a common physiopathology the up-regulation of type I interferons. To date, interferonopathies include Aicardi-Goutières syndrome, familial chilblain lupus, spondyenchondromatosis, PRoteasome-associated auto-inflammatory syndrome (PRAAS) and Singleton-Merten syndrome. These diseases present phenotypic overlap including cutaneous features like chilblain lupus, that can be inaugural or present within the first months of life. This novel set of inborn errors of immunity is evolving rapidly, with recognition of new diseases and genes. Recent and improved understanding of the physiopathology of overexpression of type I interferons has allowed the development of targeted therapies, currently being evaluated, like Janus-kinases or reverse transcriptase inhibitors.
Palavras-chave
Aicardi-Goutières syndrome; CANDLE syndrome; Chilblains; Engelures; Familial chilblain lupus; Interferon; Interferonopathy; Interféron; Interféronopathie; JASL syndrome; JMP syndrome; Lupus érythémateux systémique; Lupus-engelure familial; Nakajo-Nishimura syndrome; PRAAS; Proteasome-associated auto-inflammatory syndromes; SAVI; STING; Singleton-Merten syndrome; Spondyloenchondrodysplasia; Spondyloenchondrodysplasie; Syndrome CANDLE; Syndrome JASL; Syndrome JMP; Syndrome Nakajo-Nishimura; Syndrome SAVI; Syndrome de Singleton-Merten; Syndrome d'Aicardi-Goutières; Syndromes auto-inflammatoires liés au protéasome; Systemic lupus erythematosus; Vascularite; Vasculitis; Vasculopathie; Vasculopathy
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Interferon Tipo I
/
Doenças Autoimunes do Sistema Nervoso
/
Malformações do Sistema Nervoso
Limite:
Humans
Idioma:
Fr
Revista:
Ann Dermatol Venereol
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
França