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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
Brain, ISSN 0006-8950, 06/2010, Volume 133, Issue 6, pp. 1655 - 1667
Journal Article
Pediatric Rheumatology, ISSN 1546-0096, 06/2016, Volume 14, Issue 1, p. 35
Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a... 
CANDLE | Type I interferonopathies | Familial lupus | Type I interferon | Aicardi-Goutières syndrome | SAVI | ALPHA MONOCLONAL-ANTIBODY | SYSTEMIC-LUPUS-ERYTHEMATOSUS | HYPER-GAMMA-GLOBULINEMIA | RHEUMATOLOGY | MUSCULAR-ATROPHY | AICARDI-GOUTIERES-SYNDROME | FAMILIAL CHILBLAIN LUPUS | Aicardi-Goutieres syndrome | DNA EXONUCLEASE TREX1 | PROTEASOME SUBUNIT | PEDIATRICS | PHASE-I | IFN-ALPHA | Proteome - genetics | Nervous System Malformations - immunology | Rare Diseases - immunology | Humans | Vascular Calcification - genetics | Rare Diseases - diagnosis | Arthritis, Juvenile - diagnosis | Metacarpus - abnormalities | Interferon Type I - immunology | Mutation - immunology | Autoimmune Diseases - genetics | Osteochondrodysplasias - genetics | Proteome - immunology | Lupus Erythematosus, Systemic - immunology | Osteoporosis - genetics | Autoimmune Diseases of the Nervous System - diagnosis | Metacarpus - immunology | Osteochondrodysplasias - immunology | Osteoporosis - immunology | Signal Transduction | Vascular Calcification - immunology | Aortic Diseases - immunology | Autoimmune Diseases - immunology | Autoimmune Diseases - diagnosis | Mutation - genetics | Odontodysplasia - immunology | Lupus Erythematosus, Systemic - diagnosis | Autoimmune Diseases of the Nervous System - immunology | Dental Enamel Hypoplasia - immunology | Homozygote | Aortic Diseases - genetics | Muscular Diseases - immunology | Rare Diseases - therapy | Arthritis, Juvenile - immunology | Lupus Erythematosus, Systemic - genetics | Nervous System Malformations - diagnosis | Autoimmune Diseases - therapy | Interferon Type I - genetics | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - genetics | Systemic lupus erythematosus | Rheumatic diseases | Practice | Interferon | Research | Children | Rheumatologists | Health aspects | Risk factors
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2016, Volume 15, Issue 4, pp. 391 - 404
Journal Article
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2008, Volume 7, Issue 12, pp. 1091 - 1098
Summary Background A severe form of encephalitis associated with antibodies against NR1–NR2 heteromers of the NMDA receptor was recently identified. We aimed... 
Neurology | IMMUNITY | OVARIAN TERATOMA | AUTOIMMUNITY | DYSKINESIA | DISEASE | DISORDERS | SYNAPTIC PLASTICITY | MIDAZOLAM | VIRUSES | CLINICAL NEUROLOGY | KETAMINE | Neurocognitive Disorders - immunology | Encephalitis - diagnosis | Protein Subunits - immunology | Teratoma - physiopathology | Humans | Middle Aged | Ovarian Neoplasms - physiopathology | Paraneoplastic Syndromes, Nervous System - immunology | Child, Preschool | Male | Epilepsy - physiopathology | Epitopes - immunology | Young Adult | Autoimmune Diseases of the Nervous System - physiopathology | Encephalitis - physiopathology | Epilepsy - immunology | Adult | Female | Child | Receptors, N-Methyl-D-Aspartate - immunology | Autoimmune Diseases of the Nervous System - diagnosis | Cell Line | Paraneoplastic Syndromes, Nervous System - physiopathology | Brain - physiopathology | Cells, Cultured | Neurocognitive Disorders - physiopathology | Rats | Teratoma - immunology | Encephalitis - immunology | Autoimmune Diseases of the Nervous System - immunology | Autoantibodies - immunology | Animals | Autoantigens - immunology | Adolescent | Aged | Brain - immunology | Ovarian Neoplasms - immunology | Viral antibodies | Antibodies | Methyl aspartate | Encephalitis | Neurosciences | Analysis | Index Medicus | Cell culture | Translation | Glutamic acid receptors (ionotropic) | Memory | N-Methyl-D-aspartic acid receptors | Glutamic acid receptors | Epitopes | Hospitals | Hypoventilation | Autonomic nervous system | Immunotherapy | Dendrites | Children | teratoma | Age | Enzyme-linked immunosorbent assay | Dyskinesia | Seizures | Tumors
Journal Article
by Crow, Y.J and Chase, D.S and Schmidt, J.L and Szynkiewicz, M and Forte, G.M.A and Gornall, H.L and Oojageer, A and Anderson, B and Pizzino, A and Helman, G and Abdel-Hamid, M.S and Abdel-Salam, G.M and Ackroyd, S and Aeby, A and Agosta, G and Albin, C and Allon-Shalev, S and Arellano, M and Ariaudo, G and Aswani, V and Babul-Hirji, R and Baildam, E.M and Bahi-Buisson, N and Bailey, K.M and Barnerias, C and Barth, M and Battini, R and Beresford, M.W and Bernard, G and Bianchi, M and de Villemeur, T.B and Blair, E.M and Bloom, M and Burlina, A.B and Carpanelli, M.L and Carvalho, D.R and Castro-Gago, M and Cavallini, A and Cereda, C and Chandler, K.E and Chitayat, D.A and Collins, A.E and Corcoles, C.S and Cordeiro, N.J.V and Crichiutti, G and Dabydeen, L and Dale, R.C and D'Arrigo, S and De Goede, C.G.E.L and de Laet, C and De Waele, L.M.H and Denzler, I and Desguerre, I and Devriendt, K and Di Rocco, M and Fahey, M.C and Fazzi, E and Ferrie, C.D and Figueiredo, A and Gener, B and Goizet, C and Gowrinathan, N.R and Gowrishankar, K and Hanrahan, D and Isidor, B and Kara, L and Khan, N and King, M.D and Kirk, E.P and Kumar, R and Lagae, L and Lanieu, P and Lauffer, H and Laugel, V and La Piana, R and Lim, M.J and Lin, J.P.S.M and Linnankivi, T and Mackay, M.T and Marom, D.R and Lourenco, C.M and McKee, S.A and Moroni, I and Morton, J.E.V and Moutard, M.L and Murray, K and Nabbout, R and Nampoothiri, S and Nunez-Enamorado, N and Oades, P.J and Olivieri, I and Ostergaard, J.R and Perez-Duenas, B and Prendiville, J.S and Ramesh, V and Rasmussen, M and Regal, L and Ricci, F and Rio, M and Knaap, M and ...
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2015, Volume 167, Issue 2, pp. 296 - 312
Journal Article