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- W2890670639 endingPage "1924" @default.
- W2890670639 startingPage "1901" @default.
- W2890670639 abstract "Monogenic autoinflammatory disorders are an increasingly heterogeneous group of conditions characterised by innate immune dysregulation. Improved genetic sequencing in recent years has led not only to the discovery of a plethora of conditions considered to be ‘autoinflammatory’, but also the broadening of the clinical and immunological phenotypic spectra seen in these disorders. This review outlines the classification strategies that have been employed for monogenic autoinflammatory disorders to date, including the primary innate immune pathway or the dominant cytokine implicated in disease pathogenesis, and highlights some of the advantages of these models. Furthermore, the use of the term ‘autoinflammatory’ is discussed in relation to disorders that cross the innate and adaptive immune divide. The utilisation of next-generation sequencing (NGS) in this population is examined, as are potential in vivo and in vitro methods of modelling to determine pathogenicity of novel genetic findings. Finally, areas where our understanding can be improved are highlighted, such as phenotypic variability and genotype–phenotype correlations, with the aim of identifying areas of future research." @default.
- W2890670639 created "2018-09-27" @default.
- W2890670639 creator A5004778423 @default.
- W2890670639 creator A5009670407 @default.
- W2890670639 date "2018-09-05" @default.
- W2890670639 modified "2023-09-23" @default.
- W2890670639 title "The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders" @default.
- W2890670639 cites W1486630982 @default.
- W2890670639 cites W1489733444 @default.
- W2890670639 cites W1517791084 @default.
- W2890670639 cites W1524848610 @default.
- W2890670639 cites W1545536889 @default.
- W2890670639 cites W1560054374 @default.
- W2890670639 cites W1563577784 @default.
- W2890670639 cites W1584745483 @default.
- W2890670639 cites W1595067302 @default.
- W2890670639 cites W1597243980 @default.
- W2890670639 cites W1653486230 @default.
- W2890670639 cites W1789511037 @default.
- W2890670639 cites W1901519808 @default.
- W2890670639 cites W1966351563 @default.
- W2890670639 cites W1967161038 @default.
- W2890670639 cites W1968015356 @default.
- W2890670639 cites W1968047575 @default.
- W2890670639 cites W1969908901 @default.
- W2890670639 cites W1970535801 @default.
- W2890670639 cites W1971772230 @default.
- W2890670639 cites W1975031262 @default.
- W2890670639 cites W1975484759 @default.
- W2890670639 cites W1978034623 @default.
- W2890670639 cites W1981093010 @default.
- W2890670639 cites W1984069598 @default.
- W2890670639 cites W1985849948 @default.
- W2890670639 cites W1988388573 @default.
- W2890670639 cites W1989032379 @default.
- W2890670639 cites W1993905876 @default.
- W2890670639 cites W1994179040 @default.
- W2890670639 cites W1995197668 @default.
- W2890670639 cites W1996264333 @default.
- W2890670639 cites W1996952647 @default.
- W2890670639 cites W1997582673 @default.
- W2890670639 cites W1997863210 @default.
- W2890670639 cites W2003171404 @default.
- W2890670639 cites W2004188666 @default.
- W2890670639 cites W2005477006 @default.
- W2890670639 cites W2006813791 @default.
- W2890670639 cites W2007987850 @default.
- W2890670639 cites W2008580692 @default.
- W2890670639 cites W2010286010 @default.
- W2890670639 cites W2010466873 @default.
- W2890670639 cites W2012584392 @default.
- W2890670639 cites W2015218125 @default.
- W2890670639 cites W2015310325 @default.
- W2890670639 cites W2017237017 @default.
- W2890670639 cites W2017760549 @default.
- W2890670639 cites W2018915861 @default.
- W2890670639 cites W2019427203 @default.
- W2890670639 cites W2021700882 @default.
- W2890670639 cites W2022714591 @default.
- W2890670639 cites W2026607169 @default.
- W2890670639 cites W2027367887 @default.
- W2890670639 cites W2028368428 @default.
- W2890670639 cites W2028857382 @default.
- W2890670639 cites W2029289043 @default.
- W2890670639 cites W2032426918 @default.
- W2890670639 cites W2034430760 @default.
- W2890670639 cites W2035101626 @default.
- W2890670639 cites W2036329866 @default.
- W2890670639 cites W2036500213 @default.
- W2890670639 cites W2038659500 @default.
- W2890670639 cites W2041437482 @default.
- W2890670639 cites W2041624512 @default.
- W2890670639 cites W2043058607 @default.
- W2890670639 cites W2045015441 @default.
- W2890670639 cites W2045628835 @default.
- W2890670639 cites W2047837196 @default.
- W2890670639 cites W2048255272 @default.
- W2890670639 cites W2048491075 @default.
- W2890670639 cites W2050552472 @default.
- W2890670639 cites W2051713346 @default.
- W2890670639 cites W2052847333 @default.
- W2890670639 cites W2053114531 @default.
- W2890670639 cites W2055177114 @default.
- W2890670639 cites W2055709087 @default.
- W2890670639 cites W2059439438 @default.
- W2890670639 cites W2062200623 @default.
- W2890670639 cites W2063675796 @default.
- W2890670639 cites W2064815984 @default.
- W2890670639 cites W2065561114 @default.
- W2890670639 cites W2066635545 @default.
- W2890670639 cites W2069132395 @default.
- W2890670639 cites W2071556127 @default.
- W2890670639 cites W2072208297 @default.
- W2890670639 cites W2072324099 @default.
- W2890670639 cites W2073731887 @default.
- W2890670639 cites W2074547696 @default.
- W2890670639 cites W2076690763 @default.
- W2890670639 cites W2076963123 @default.