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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2016, Volume 113, Issue 36, pp. 10127 - 10132
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by... 
Autoinflammatory disease | Cytokines | Nf-κb pathway | Linear deubiquitinase | OTULIN | ACTIVATION | AMYLOPECTINOSIS | NF-kappa B pathway | UBIQUITIN | MULTIDISCIPLINARY SCIENCES | linear deubiquitinase | ASSEMBLY COMPLEX | CELL-DEATH | HOIP | SHARPIN | autoinflammatory disease | INFLAMMATION | LUBAC DEFICIENCY | cytokines | IMMUNODEFICIENCY | Fibroblasts - enzymology | Humans | NF-kappa B - immunology | Child, Preschool | Male | Fever - physiopathology | Leukocytes, Mononuclear - immunology | HEK293 Cells | Female | Child | Cytokines - genetics | Failure to Thrive - physiopathology | Hereditary Autoinflammatory Diseases - pathology | Cytokines - immunology | Dermatitis - physiopathology | Signal Transduction | Hereditary Autoinflammatory Diseases - enzymology | Gene Expression Regulation | Ubiquitin - genetics | Endopeptidases - deficiency | Hereditary Autoinflammatory Diseases - diagnosis | Fibroblasts - pathology | Endopeptidases - immunology | Leukocytes, Mononuclear - pathology | Endopeptidases - genetics | NF-kappa B - genetics | Pedigree | Age of Onset | Alleles | Fibroblasts - immunology | Leukocytes, Mononuclear - enzymology | Panniculitis - physiopathology | Consanguinity | Mutation | Ubiquitin - immunology | Hereditary Autoinflammatory Diseases - genetics | Allelomorphism | Genetic aspects | Gene mutations | Autoimmune diseases | Health aspects | Biological Sciences | NF-κB pathway
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
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Journal Article
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