title: Type I interferonopathies: mendelian type I interferon up-regulation.
abstract: The concept of grouping Mendelian disorders associated with an up-regulation of type I interferon has only recently been suggested. Here we discuss the progress being made in the delineation and understanding of this novel set of inborn errors of immunity, the human type I interferonopathies.
authors.affiliation: INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes - Sorbonne Paris Cité University, Institute Imagine, 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, UK. Electronic address: yanickcrow@mac.com.
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
mesh_terms: D000818:Animals; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D020274:Autoimmune Diseases of the Nervous System / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D015922:Complement C1q / Q000172:deficiency; D005786:Gene Expression Regulation; D056726:Genetic Association Studies; D006801:Humans; D007370:Interferon Type I / Q000378:metabolism*; D009154:Mutation; D009421:Nervous System Malformations / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D010641:Phenotype; D046988:Proteasome Endopeptidase Complex / Q000235:genetics / Q000378:metabolism; D050794:STAT1 Transcription Factor / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction; D015854:Up-Regulation
chemical_list: D007370:Interferon Type I; D050794:STAT1 Transcription Factor; D015922:Complement C1q; C077436:LMP7 protein; D046988:Proteasome Endopeptidase Complex