Peer-reviewed veterinary case report
Mouse models of type I interferonopathies.
- Journal:
- Human molecular genetics
- Year:
- 2025
- Authors:
- Luca, Domnica & Kato, Hiroki
- Affiliation:
- Institute of Cardiovascular Immunology · Germany
Abstract
Type I interferonopathies are severe monogenic diseases caused by mutations that result in chronically upregulated production of type I interferon. They present with a broad variety of symptoms, the mechanisms of which are being extensively studied. Mouse models of type I interferonopathies are an important resource for this purpose, and in this context, we review several key molecular and phenotypic findings that are advancing our understanding of the respective diseases. We focus on genotypes related to nucleic acid metabolism, sensing by cytosolic receptors and downstream signalling.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/39680957/