[Type I interferonopathies].

Interféronopathies de type I

J. Munoz (1) , M. Marque (1) , M. Dandurand (1) , L. Meunier (1, 2) , Y.-J. Crow (3, 4, 5, 6, 7) , D. Bessis (8, 9)

1 CHU Nîmes - Centre Hospitalier Universitaire de Nîmes
2 IBMM - Institut des Biomolécules Max Mousseron [Pôle Chimie Balard]
3 Equipe Inserm U1163 - Laboratory of neurogenetics and neuroinflammation
4 Hôpital Necker - Enfants Malades [AP-HP]
5 University of Manchester [Manchester]
6 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
7 UPD5 - Université Paris Descartes - Paris 5
8 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
9 Pathogénèse et contrôle des infections chroniques (PCCI)

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.

Mots clés: 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; Interféron; Interferonopathy; Familial chilblain lupus; Engelures; Chilblains; CANDLE syndrome; Aicardi-Goutières syndrome

Domaines: Dermatologie

J. Munoz, M. Marque, M. Dandurand, L. Meunier, Y.-J. Crow, et al.. Interféronopathies de type I. Annales de Dermatologie et de Vénéréologie, 2015, 142 (11), pp.653 - 663. ⟨10.1016/j.annder.2015.06.018⟩. ⟨hal-01913228⟩