Journal article

Monogenic autoinflammatory diseases: Cytokinopathies

Fiona Moghaddas, Seth L Masters

Cytokine | ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD | Published : 2015

Abstract

Rapid advances in genetics are providing unprecedented insight into functions of the innate immune system with identification of the mutations that cause monogenic autoinflammatory disease. Cytokine antagonism is profoundly effective in a subset of these conditions, particularly those associated with increased interleukin-1 (IL-1) activity, the inflammasomopathies. These include syndromes where the production of IL-1 is increased by mutation of innate immune sensors such as NLRP3, upstream signalling molecules such as PSTPIP1 and receptors or downstream signalling molecules, such as IL-1Ra. Another example of this is interferon (IFN) and the interferonopathies, with mutations in the sensors ..

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University of Melbourne Researchers