Categorisation of monogenic disorders: Underlying a deficit of type I IFN activity / observed type I IFN signalling upregulation

The last 20 years have seen the definition of human monogenic disorders and their autoimmune phenocopies underlying either defective or enhanced type I interferon (IFN) activity. These disorders delineate the impact of type I IFNs in natural conditions. Remarkably, only a narrow window of type I IFN activity is beneficial. Insufficient type I IFN predisposes humans to life-threatening viral diseases, albeit surprisingly few, with a central role in immunity to respiratory and cerebral viral infection. Excessive type I IFN, perhaps unexpectedly, appears to underlie a greater number of autoinflammatory and/or autoimmune conditions known as type I interferonopathies, whose study has revealed multiple molecular programs involved in the induction of type I IFN signaling. These observations suggest the manipulation of type I IFN activity to within a physiological range may be clinically relevant for the prevention and treatment of viral and inflammatory disease., , , # Human life within a narrow range: the lethal ups and downs of type I interferons

This dataset represents a simple list of human diseases and their mutant genotypes considered to lead to either a deficiency of type I interferon signalling (Table S1) or enhanced type I interferon signalling (Table S2).

# Description of the data and file structure

Table S1 is arranged according to protein/gene, protein/gene function, mutational mechanism, viral infection predisposition, selected references relating to each mutant genotype, and comments.

Table S1 is arranged according to protein/gene, /protein/gene function, mutational mechanism, phenotypic label/features, selected references relating to each mutant genotype, and comments.

The data can be used to understand the mutant genotypes causing the listed phenotypes, with the references serving to inform the reader of the basis on which the individual mutant genotypes have been assigned.

There are no linked data files.

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