The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders
Fiona Moghaddas, Seth L Masters
CLINICAL SCIENCE | PORTLAND PRESS LTD | Published : 2018
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 ..View full abstract
Awarded by NHMRC grants
This work was supported by the Henry James Williams Scholarship (University of Melbourne) to F.M.; the Australian Genomics Health Alliance Ph.D. top-up award to F.M.; the NHMRC grants [grant numbers 1144282, 1142354, 1099262 (to S.L.M.)]; the Sylvia and Charles Viertel Foundation to S.L.M.; the HHMI-Wellcome International Research Scholarship to S.L.M.; and GlaxoSmithKline to S.L.M.