title: [Type I interferonopathies].
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.
authors.affiliation: Département de dermatologie, hôpital Caremeau, CHRU de Nîmes, 4, rue du Professeur-Debré, 30029 Nîmes, France.
authors.forename: J
authors.initials: J
authors.lastname: Munoz
authors.affiliation: Département de dermatologie, hôpital Caremeau, CHRU de Nîmes, 4, rue du Professeur-Debré, 30029 Nîmes, France.
authors.forename: M
authors.initials: M
authors.lastname: Marque
authors.affiliation: Département de dermatologie, hôpital Caremeau, CHRU de Nîmes, 4, rue du Professeur-Debré, 30029 Nîmes, France.
authors.forename: M
authors.initials: M
authors.lastname: Dandurand
authors.affiliation: Département de dermatologie, hôpital Caremeau, CHRU de Nîmes, 4, rue du Professeur-Debré, 30029 Nîmes, France; UMR CNRS 5247, institut des biomolécules Max-Mousseron, faculté de pharmacie, 15, avenue Charles-Flahault, BP 14491, 34093 Montpellier cedex 05, France.
authors.forename: L
authors.initials: L
authors.lastname: Meunier
authors.affiliation: Laboratoire de neurogénétique et de neuro-inflammation, institut Imagine, hôpital Necker-Enfants-Malades, université Paris Descartes, 24, boulevard du Montparnasse, 75015 Paris, France; Manchester centre for genomic medicine, institute of human development, faculty of medical and human sciences, Manchester academic health sciences centre, university of Manchester, M13 9WL Manchester, Royaume-Uni.
authors.forename: Y-J
authors.initials: YJ
authors.lastname: Crow
authors.affiliation: Département de dermatologie, hôpital Saint-Eloi, CHRU de Montpellier, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France; Université Montpellier 1, 163, rue Auguste-Broussonnet, 34090 Montpellier, France; Inserm U1058, UFR de pharmacie, 15, avenue Charles-Flahaut, 34093 Montpellier cedex 5, France. Electronic address: d-bessis@chu-montpellier.fr.
authors.forename: D
authors.initials: D
authors.lastname: Bessis
mesh_terms: D001018:Aortic Diseases / Q000276:immunology; D001327:Autoimmune Diseases / Q000276:immunology; D020274:Autoimmune Diseases of the Nervous System / Q000235:genetics / Q000276:immunology*; D002647:Chilblains / Q000276:immunology; D003744:Dental Enamel Hypoplasia / Q000276:immunology; D006801:Humans; D007370:Interferon Type I / Q000276:immunology*; D053612:Janus Kinases / Q000037:antagonists & inhibitors; D008178:Lupus Erythematosus, Cutaneous / Q000276:immunology; D008663:Metacarpus / Q000002:abnormalities / Q000276:immunology; D009135:Muscular Diseases / Q000276:immunology; D009421:Nervous System Malformations / Q000235:genetics / Q000276:immunology*; D018126:Odontodysplasia / Q000276:immunology; D010009:Osteochondrodysplasias / Q000276:immunology; D010024:Osteoporosis / Q000276:immunology; D046988:Proteasome Endopeptidase Complex / Q000276:immunology; D018894:Reverse Transcriptase Inhibitors / Q000627:therapeutic use; D012867:Skin / Q000473:pathology; D013577:Syndrome; D016896:Treatment Outcome; D061205:Vascular Calcification / Q000276:immunology
chemical_list: D007370:Interferon Type I; D018894:Reverse Transcriptase Inhibitors; D053612:Janus Kinases; D046988:Proteasome Endopeptidase Complex
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