Abstract
The concept of grouping Mendelian disorders associated with an up-regulation of type I interferon has only recently been suggested. Here we discuss the progress being made in the delineation and understanding of this novel set of inborn errors of immunity, the human type I interferonopathies.
Copyright © 2014 Elsevier Ltd. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Autoimmune Diseases / diagnosis
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Autoimmune Diseases / drug therapy
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Autoimmune Diseases / genetics
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Autoimmune Diseases / metabolism
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Autoimmune Diseases of the Nervous System / diagnosis
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Autoimmune Diseases of the Nervous System / drug therapy
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Autoimmune Diseases of the Nervous System / genetics
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Autoimmune Diseases of the Nervous System / metabolism
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Complement C1q / deficiency
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Gene Expression Regulation*
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Genetic Association Studies*
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Humans
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Interferon Type I / metabolism*
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Mutation
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Nervous System Malformations / diagnosis
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Nervous System Malformations / drug therapy
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Nervous System Malformations / genetics
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Nervous System Malformations / metabolism
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Osteochondrodysplasias / diagnosis
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Osteochondrodysplasias / drug therapy
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Osteochondrodysplasias / genetics
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Osteochondrodysplasias / metabolism
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Phenotype
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Proteasome Endopeptidase Complex / genetics
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Proteasome Endopeptidase Complex / metabolism
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STAT1 Transcription Factor / genetics
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STAT1 Transcription Factor / metabolism
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Signal Transduction*
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Up-Regulation
Substances
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Interferon Type I
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STAT1 Transcription Factor
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Complement C1q
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LMP7 protein
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Proteasome Endopeptidase Complex
Supplementary concepts
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Aicardi-Goutieres syndrome
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Spondyloenchondrodysplasia