Type I interferonopathies: a novel set of inborn errors of immunity
Yanick J. Crow,
Yanick J. Crow
Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, Manchester, United Kingdom
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Yanick J. Crow,
Yanick J. Crow
Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, Manchester, United Kingdom
Search for more papers by this author
Yanick J. Crow, Genetic Medicine, 6th Floor, St. Mary's Hospital, Oxford Road, Manchester, M13 9WL, United Kingdom. [email protected]
Preferred citation: Crow, Y.J. 2011. Type I interferonopathies: a novel set of inborn errors of immunity. In “The Year in Human and Medical Genetics: Inborn Errors of Immunity I.” Jean-Laurent Casanova, Mary Ellen Conley & Luigi Notarangelo, Eds. Ann. N.Y. Acad. Sci. 1238: 91–98.
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.
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