Abstract
Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common. Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in disease pathogenesis. As observed for IL1-β and autoinflammatory diseases, knowledge of the defects responsible for type I interferonopathies will likely promote the development of targeted therapy.
Keywords:
Aicardi-Goutières syndrome; CANDLE; Familial lupus; SAVI; Type I interferon; Type I interferonopathies.
MeSH terms
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Aortic Diseases / genetics
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Aortic Diseases / immunology
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Arthritis, Juvenile / diagnosis
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Arthritis, Juvenile / immunology*
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Autoimmune Diseases / diagnosis
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Autoimmune Diseases / genetics
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Autoimmune Diseases / immunology*
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Autoimmune Diseases / therapy
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Autoimmune Diseases of the Nervous System / diagnosis
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Autoimmune Diseases of the Nervous System / immunology
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Dental Enamel Hypoplasia / genetics
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Dental Enamel Hypoplasia / immunology
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Homozygote
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Humans
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Interferon Type I / genetics
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Interferon Type I / immunology*
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Lupus Erythematosus, Systemic / diagnosis
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Lupus Erythematosus, Systemic / genetics
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Lupus Erythematosus, Systemic / immunology
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Metacarpus / abnormalities
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Metacarpus / immunology
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Muscular Diseases / genetics
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Muscular Diseases / immunology
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Mutation / genetics
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Mutation / immunology
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Nervous System Malformations / diagnosis
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Nervous System Malformations / immunology
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Odontodysplasia / genetics
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Odontodysplasia / immunology
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Osteochondrodysplasias / genetics
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Osteochondrodysplasias / immunology
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Osteoporosis / genetics
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Osteoporosis / immunology
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Proteome / genetics
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Proteome / immunology
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Rare Diseases / diagnosis
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Rare Diseases / immunology
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Rare Diseases / therapy
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Signal Transduction
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Vascular Calcification / genetics
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Vascular Calcification / immunology
Substances
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Interferon Type I
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Proteome
Supplementary concepts
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Aicardi-Goutieres syndrome
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Singleton Merten syndrome
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Spondyloenchondrodysplasia