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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
Cytokine, ISSN 1043-4666, 11/2015, Volume 76, Issue 1, p. 58
The dissection of the genetic basis of the rare inflammatory phenotype Aicardi-Goutieres syndrome (AGS), and the ongoing definition of a primary link between... 
Journal Article
Cytokine, ISSN 1043-4666, 11/2015, Volume 76, Issue 1, pp. 58 - 58
Journal Article
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
Journal Article
Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 2176 - 15
Microbial nucleic acid recognition serves as the major stimulus to an antiviral response, implying a requirement to limit the misrepresentation of self nucleic... 
AICARDI-GOUTIERES-SYNDROME | SYSTEMIC-LUPUS-ERYTHEMATOSUS | ACTIVE ENZYME | MAMMALIAN DNA | MULTIDISCIPLINARY SCIENCES | ALPHA | INFLAMMATORY DISEASE | DEOXYRIBONUCLEASE-II | MUTATIONS | EXONUCLEASE TREX1 | NUCLEIC-ACIDS | Endodeoxyribonucleases - immunology | Phosphorylation | Deoxyribonucleases - deficiency | Humans | RNA, Messenger - analysis | Male | Gene Expression Profiling | Erythroblasts - immunology | Signal Transduction - immunology | Deoxyribonucleases - immunology | STAT1 Transcription Factor - metabolism | Female | Endodeoxyribonucleases - deficiency | Child | STAT3 Transcription Factor - metabolism | Interferon-alpha - metabolism | Antiviral Agents - pharmacology | Hereditary Autoinflammatory Diseases - blood | Hereditary Autoinflammatory Diseases - enzymology | Hereditary Autoinflammatory Diseases - immunology | Interferon-alpha - immunology | Up-Regulation - drug effects | Deoxyribonucleases - genetics | Hematopoiesis - immunology | Endodeoxyribonucleases - genetics | Sequence Analysis, RNA | Interferon-alpha - blood | Adolescent | Mutation | Hereditary Autoinflammatory Diseases - genetics | Glomerulonephritis | Neonates | Deformation | Liver | Antibodies | α-Interferon | Microorganisms | Lymphocytes | Hematopoiesis | Peripheral blood | Anti-DNA antibodies | Stat1 protein | Enzyme-linked immunosorbent assay | Deoxyribonucleic acid--DNA | Deoxyribonuclease | Hematology | Anemia | Stat3 protein | Nucleic acids | Ribonucleic acid--RNA | Hemopoiesis | Signaling | Monocytes | Erythroblasts | Fibrosis | Interferon | Endonuclease | Life Sciences | Immunology
Journal Article
Nature, ISSN 0028-0836, 08/2018, Volume 560, Issue 7717, pp. 238 - 242
Mitochondria are descendants of endosymbiotic bacteria and retain essential prokaryotic features such as a compact circular genome. Consequently, in mammals,... 
IMPORT | AICARDI-GOUTIERES-SYNDROME | READ ALIGNMENT | HUMAN GENOME | INNATE IMMUNE-RESPONSES | DNA | MULTIDISCIPLINARY SCIENCES | DISEASE | MUTATIONS | EXPRESSION | RNA Helicases - metabolism | Exoribonucleases - genetics | RNA, Mitochondrial - immunology | Exoribonucleases - deficiency | Humans | Multienzyme Complexes - metabolism | Interferon Type I - immunology | bcl-2 Homologous Antagonist-Killer Protein - metabolism | DEAD-box RNA Helicases - deficiency | Herpesvirus 1, Human - immunology | DEAD-box RNA Helicases - metabolism | Single-Cell Analysis | Polyribonucleotide Nucleotidyltransferase - metabolism | Endoribonucleases - metabolism | Gene Expression Regulation - immunology | Mice, Inbred C57BL | bcl-2-Associated X Protein - metabolism | Interferon-Induced Helicase, IFIH1 - metabolism | DEAD-box RNA Helicases - genetics | Animals | RNA, Double-Stranded - immunology | Herpesvirus 1, Human - genetics | Mice | HeLa Cells | Mutation | Exoribonucleases - metabolism | Interferon Type I - antagonists & inhibitors | Physiological aspects | Mitochondrial DNA | Genetic aspects | Immune response | RNA | Immunological research | Transcription | Genes | Infections | Activation | Genomes | Accumulation | DNA helicase | Signal transduction | Mitochondria | Microorganisms | Indigenous species | Polynucleotide phosphorylase | Localization | Bioinformatics | Deoxyribonucleic acid--DNA | Immune system | Enzymes | Double-stranded RNA | RNA polymerase | Metabolism | Mammals | Ribonucleic acid--RNA | Phosphorylase | Vertebrates | Signaling | Microscopy | Interferon | Diabetes | Cytoplasm | Viral infections | RNA helicase | Life Sciences | Immunology
Journal Article
JOURNAL OF EXPERIMENTAL MEDICINE, ISSN 0022-1007, 11/2016, Volume 213, Issue 12, pp. 2527 - 2538
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2013, Volume 12, Issue 12, pp. 1159 - 1169
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1752 - 1755
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2014, Volume 371, Issue 6, pp. 568 - 571
Journal Article