title: [Type I interferonopathies. Literature review].
abstract: Thanks to the tremendous progress of genetics, a new field of inherited inflammatory disorders related to an overproduction of interferon has recently emerged. The so-called type I interferonopathies represent an heterogeneous group of Mendelian diseases presenting with various features starting in childhood, although the diagnosis can also be made later in life. Several clinical and biological characteristics are shared across these patients such as a positive interferon (IFN) signature and neurological and cutaneous involvement, some of which display organ specificity. Treatment is challenging, but IFN-targeting therapies represent a promising option in these severe diseases.
authors.affiliation: Service de rhumatologie pédiatrique, hôpital femme-mère-enfant, hospices civils de Lyon, 59, boulevard Pinel, 69500 Bron, France.
authors.forename: C
authors.initials: C
authors.lastname: Picard
authors.affiliation: Service de rhumatologie pédiatrique, hôpital femme-mère-enfant, hospices civils de Lyon, 59, boulevard Pinel, 69500 Bron, France. Electronic address: alexandre.belot@chu-lyon.fr.
authors.forename: A
authors.initials: A
authors.lastname: Belot
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007370:Interferon Type I / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D058990:Molecular Targeted Therapy / Q000379:methods; D009154:Mutation; D051192:Receptors, Pattern Recognition / Q000235:genetics
chemical_list: D007370:Interferon Type I; D051192:Receptors, Pattern Recognition
keywords: Autoimmune disease; Genetics; Génétique; Interféron de type I; Maladie auto-immune; Pattern recognition receptors; Pediatrics; Pédiatrie; Type I interferon