期刊
CYTOKINE & GROWTH FACTOR REVIEWS
卷 29, 期 -, 页码 101-107出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.cytogfr.2016.03.005
关键词
Singleton-Merten; Aicardi-Goutieres; SLE
Type I interferonopathies are a relatively new class of inherited autoimmune disorders associated with an inborn elevated interferon response. Activation of cytosolic receptors which recognize viral double stranded RNA including the RIG-I (retinoic acid-inducible gene I) like receptors RIG-I and MDA5 (melanoma differentiation-associated gene 5) has been shown to induce the transcription of type I interferon genes. Within recent years, with the help of next generation sequencing techniques in syndromic families, mutations in the genes encoding for RIG-I and MDA5 have been identified to cause rare diseases including Aicardi-Goutieres syndrome, Systemic Lupus Erythematosus in certain individuals as well as classic and atypical Singleton-Merten syndrome. Patients carrying mono-allelic mutations in MDA5 and RIG-I show constitutive activation of the RIG-I receptors and downstream signalling associated with increased type I interferon production. Although differing in the degree of phenotypic expression and severity, the phenotype of these novel diseases shows a considerable overlap reflecting their common pathogenetic pathway. (C) 2016 Elsevier Ltd. All rights reserved.
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