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.
© 2011 New York Academy of Sciences.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Autoimmune Diseases / genetics
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Autoimmune Diseases / immunology
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Autoimmune Diseases of the Nervous System / genetics
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Autoimmune Diseases of the Nervous System / immunology
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Complement System Proteins / deficiency
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Humans
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Immunity
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Immunologic Deficiency Syndromes / genetics*
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Immunologic Deficiency Syndromes / immunology*
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Immunologic Deficiency Syndromes / therapy
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Interferon Type I / genetics*
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Interferon Type I / immunology
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Interferon Type I / metabolism
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Lupus Erythematosus, Systemic / genetics
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Lupus Erythematosus, Systemic / immunology
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Nervous System Malformations / genetics
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Nervous System Malformations / immunology
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Osteochondrodysplasias / genetics
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Osteochondrodysplasias / immunology
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Up-Regulation
Substances
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Interferon Type I
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Complement System Proteins
Supplementary concepts
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Aicardi-Goutieres syndrome
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Spondyloenchondrodysplasia