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Journal of Experimental Medicine, ISSN 0022-1007, 2016, Volume 213, Issue 12, pp. 2527 - 2538
Journal Article
Current Opinion in Immunology, ISSN 0952-7915, 2014, Volume 32, pp. 7 - 12
Highlights • Uncontrolled up-regulation of type I interferon signaling can cause human disease. • Human monogenic type I interferonopathies are being... 
Allergy and Immunology | AICARDI-GOUTIERES-SYNDROME | SYSTEMIC-LUPUS-ERYTHEMATOSUS | CYCLIC GMP-AMP | C1Q DEFICIENCY | GENOME INTEGRITY | INNATE IMMUNE-RESPONSE | CYTOSOLIC DNA | PROGRESSIVE FAMILIAL ENCEPHALOPATHY | IMMUNOLOGY | AUTOIMMUNE-DISEASE | IFN-ALPHA | Up-Regulation | Humans | Autoimmune Diseases - genetics | Osteochondrodysplasias - drug therapy | STAT1 Transcription Factor - metabolism | Osteochondrodysplasias - genetics | Nervous System Malformations - metabolism | Autoimmune Diseases of the Nervous System - genetics | Interferon Type I - metabolism | Autoimmune Diseases of the Nervous System - metabolism | Nervous System Malformations - genetics | Autoimmune Diseases - metabolism | Autoimmune Diseases - drug therapy | Autoimmune Diseases of the Nervous System - diagnosis | Genetic Association Studies | Signal Transduction | Gene Expression Regulation | Autoimmune Diseases - diagnosis | Osteochondrodysplasias - diagnosis | STAT1 Transcription Factor - genetics | Autoimmune Diseases of the Nervous System - drug therapy | Proteasome Endopeptidase Complex - genetics | Phenotype | Animals | Nervous System Malformations - diagnosis | Nervous System Malformations - drug therapy | Complement C1q - deficiency | Mutation | Proteasome Endopeptidase Complex - metabolism | Osteochondrodysplasias - metabolism | Biological response modifiers | Interferon | Genetics
Journal Article
Nature Reviews Immunology, ISSN 1474-1733, 07/2015, Volume 15, Issue 7, pp. 429 - 440
Journal Article
Annals of the New York Academy of Sciences, ISSN 0077-8923, 11/2011, Volume 1238, Issue 1, pp. 91 - 98
The concept of grouping Mendelian disorders associated with an upregulation of type I interferon is not currently recognized in the medical literature. Here,... 
type I interferon | spondyloenchondrodysplasia | systemic lupus erythematosus | interferonopathy | Aicardi–Goutières syndrome | Systemic lupus erythematosus | Interferonopathy | Type I interferon | Aicardi-Goutières syndrome | Spondyloenchondrodysplasia | SYSTEMIC-LUPUS-ERYTHEMATOSUS | VIRUS INTERFERENCE | MULTIDISCIPLINARY SCIENCES | CONGENITAL INFECTION | EXONUCLEASE TREX1 | PLASMACYTOID DENDRITIC CELLS | GENETIC SUSCEPTIBILITY | AICARDI-GOUTIERES-SYNDROME | FAMILIAL CHILBLAIN LUPUS | Aicardi-Goutieres syndrome | EXPRESSION SIGNATURE | IFN-ALPHA | Immunologic Deficiency Syndromes - therapy | Up-Regulation | Osteochondrodysplasias - immunology | Nervous System Malformations - immunology | Humans | Autoimmune Diseases - immunology | Interferon Type I - immunology | Immunity | Autoimmune Diseases - genetics | Autoimmune Diseases of the Nervous System - immunology | Osteochondrodysplasias - genetics | Complement System Proteins - deficiency | Lupus Erythematosus, Systemic - genetics | Autoimmune Diseases of the Nervous System - genetics | Lupus Erythematosus, Systemic - immunology | Immunologic Deficiency Syndromes - genetics | Interferon Type I - genetics | Interferon Type I - metabolism | Immunologic Deficiency Syndromes - immunology | Nervous System Malformations - genetics | Lupus | Biological response modifiers
Journal Article
JOURNAL OF EXPERIMENTAL MEDICINE, ISSN 0022-1007, 11/2016, Volume 213, Issue 12, pp. 2527 - 2538
Journal Article
Book Chapter
Annals of the New York Academy of Sciences, ISSN 0077-8923, 11/2011, Volume 1238, Issue 1, pp. 91 - 98
Journal Article
Developmental Medicine and Child Neurology, ISSN 0012-1622, 2019
Comprehensive reviews of the clinical characteristics and pathogenesis of Aicardi-Goutières syndrome (AGS), particularly its contextualization within a... 
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 10/2015, Volume 112, Issue 42, pp. 12903 - 12904
Journal Article
Annual Review of Immunology, ISSN 0732-0582, 4/2019, Volume 37, Issue 1, pp. 247 - 267
Recognition of foreign nucleic acids is the primary mechanism by which a type I interferon-mediated antiviral response is triggered. Given that human cells are... 
type I interferon | innate immunity | interferonopathies | MAMMALIAN DNA | RIG-I | IMMUNOLOGY | MITOCHONDRIAL-DNA | VIRAL-INFECTION | AICARDI-GOUTIERES-SYNDROME | REVERSE-TRANSCRIPTASE INHIBITORS | RNA EXOSOME | PROTEASOME SUBUNIT | MUTATIONS | AUTOIMMUNE-DISEASE | Interferon | Inflammation | Nucleic acids | Biological response modifiers
Journal Article
Cell, ISSN 0092-8674, 02/2018, Volume 172, Issue 4, pp. 640 - 642
Discrimination between viral and self-derived nucleic acid species is crucial in maintaining effective antiviral immunity whilst avoiding autoinflammation.... 
IFIH1 | AUTOIMMUNITY | TREX1 | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | DEAD-box RNA Helicases - genetics | RNA | Adenosine Deaminase - genetics | RNA Editing | Humans | Self Tolerance | Inflammation | RNA-Binding Proteins | Antiviral agents | Nucleic acids
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2014, Volume 371, Issue 6, pp. 568 - 571
Journal Article
Current Opinion in Immunology, ISSN 0952-7915, 2015, Volume 37, pp. 1 - 5
Journal Article
Nature Reviews Rheumatology, ISSN 1759-4790, 2018, Volume 14, Issue 9, pp. 508 - 509
Stimulator of interferon genes (STING), an important component of the cytosolic DNA sensing pathway, is an attractive therapeutic target for ameliorating... 
ACTIVATION | RHEUMATOLOGY | Membrane Proteins | Humans | Inflammation | Molecular targeted therapy | Care and treatment | Carrier proteins | Innovations | Development and progression | Genetic aspects | Health aspects | Therapeutic applications | Interferon | Deoxyribonucleic acid--DNA
Journal Article
Rheumatology, ISSN 1462-0324, 10/2017, Volume 56, Issue suppl_6
Journal Article
Nature, ISSN 0028-0836, 12/2011, Volume 480, Issue 7377, pp. 379 - 382
Journal Article
Ear, Nose and Throat Journal, ISSN 0145-5613, 09/2015, Volume 94, Issue 9, p. 360
Journal Article