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- PMID: 22129056
- UKPMCID: 22129056
- DOI: 10.1111/j.1749-6632.2011.06220.x
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Type I interferonopathies: a novel set of inborn errors of immunity.
Annals of the New York Academy of Sciences. 2011;1238(1):91-8.
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Full-text held externally
- PMID: 22129056
- UKPMCID: 22129056
- DOI: 10.1111/j.1749-6632.2011.06220.x
Abstract
The concept of grouping Mendelian disorders associated with an upregulation of type I interferon is not currently recognized in the medical literature. Here, we argue that such a concept has scientific validity and clinical utility. Specifically, we discuss a group of conditions, including Aicardi-Goutières syndrome, spondyloenchondrodysplasia, and cases of systemic lupus erythematosus with complement deficiency, in which an upregulation of type I interferons is apparently central to their pathogenesis. We believe that these diseases can usefully be considered to represent a novel set of inborn errors of immunity, and that the recognition of such diseases as type I interferonopathies will have significance in the development and use of targeted therapies.