| Literature DB >> 26363997 |
J Munoz1, M Marque1, M Dandurand1, L Meunier2, Y-J Crow3, D Bessis4.
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.Entities:
Keywords: 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
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Year: 2015 PMID： 26363997 DOI： 10.1016/j.annder.2015.06.018
Source DB: PubMed Journal: Ann Dermatol Venereol ISSN： 0151-9638 Impact factor: 0.777