Categorisation of monogenic disorders: Underlying a deficit of type I IFN activity / observed type I IFN signalling upregulation
Data files
May 28, 2024 version files 722.66 KB
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IFNs_UD_Figs_v29_Tables_Long_refs2.docx
705.27 KB
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README.md
1.42 KB
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Title_of_Dataset.docx
15.97 KB
Abstract
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.
Sharing/Access information
The tables refer to “Human life within a narrow range: the lethal ‘ups and downs’ of human type I interferons” (adm8185) published in Science Immunology.
The tables refer to “Human life within a narrow range: the lethal ‘ups and downs’ of human type I interferons” (adm8185) published in Science Immunology.
Data was derived from the following sources:PubMed
Code/Software
Not relevant.
- Crow, Yanick J.; Casanova, Jean-Laurent (2024), Human life within a narrow range: The lethal ups and downs of type I interferons, Science Immunology, Journal-article, https://doi.org/10.1126/sciimmunol.adm8185
