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• W946222322 abstract "We review newly discovered monogenic immune-dysregulatory disorders that were reported in Pubmed over the last year.Fourteen novel monogenic immune-dysregulatory disorders that present with innate and acquired/adaptive immune dysregulation and inflammatory clinical phenotypes were identified. These include autosomal-dominant gain-of function mutations in viral innate immune sensors or their adaptors, TMEM173/STING IFIH1/MDA5 and DDX58/RIG-I that cause complex clinical syndromes distinct from IL-1-mediated diseases and present with a chronic type I interferon (IFN Type I) signature in peripheral blood. Gain-of-function mutations in NLRC4 add a novel inflammasome disorder associated with predisposition to macrophage-activation syndrome and highly elevated IL-18 levels. Mutations in ADA2, TRNT1 and COPA, AP1S3, and TNFRSF11A cause complex syndromes; loss-of-function mutations in enzymes and molecules are linked to the generation of 'cellular stress' and the release of inflammatory mediators that likely cause the inflammatory disease manifestations. A monogenic form of systemic-onset juvenile idiopathic arthritis is caused by homozygous mutations in LACC1. Lastly, mutations in PRKDC (recessive), STAT3, CTLA4, and PIK3R1 (all dominant) lead to impaired central and peripheral T-cell tolerance and present with variable disease manifestations of immunodeficiency and immune dysregulation/autoimmunity.A number of novel monogenic diseases that present with innate and/or acquired immune dysregulation reveal novel immune pathways that cause human inflammatory diseases and suggest potential novel targets for treatment." @default.
• W946222322 created "2016-06-24" @default.
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• W946222322 creator A5054255771 @default.
• W946222322 date "2015-09-01" @default.
• W946222322 modified "2023-09-25" @default.
• W946222322 title "Newly recognized Mendelian disorders with rheumatic manifestations" @default.
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• W946222322 doi "https://doi.org/10.1097/bor.0000000000000207" @default.
• W946222322 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4565793" @default.
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