Type I interferonopathies: Mendelian type I interferon up-regulation

Highlights • Uncontrolled up-regulation of type I interferon signaling can cause human disease. • Human monogenic type I interferonopathies are being increasingly recognized. • Therapies will likely become available to control type I interferon up-regulation.

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Published inCurrent opinion in immunology Vol. 32; pp. 7 - 12
Main Author Crow, Yanick J
Format Journal Article
LanguageEnglish
Published England Elsevier Ltd 01.02.2015
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Abstract Highlights • Uncontrolled up-regulation of type I interferon signaling can cause human disease. • Human monogenic type I interferonopathies are being increasingly recognized. • Therapies will likely become available to control type I interferon up-regulation.
AbstractList 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.
•Uncontrolled up-regulation of type I interferon signaling can cause human disease.•Human monogenic type I interferonopathies are being increasingly recognized.•Therapies will likely become available to control type I interferon up-regulation. 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.
Highlights • Uncontrolled up-regulation of type I interferon signaling can cause human disease. • Human monogenic type I interferonopathies are being increasingly recognized. • Therapies will likely become available to control type I interferon up-regulation.
Author Crow, Yanick J
Author_xml – sequence: 1
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Snippet Highlights • Uncontrolled up-regulation of type I interferon signaling can cause human disease. • Human monogenic type I interferonopathies are being...
•Uncontrolled up-regulation of type I interferon signaling can cause human disease.•Human monogenic type I interferonopathies are being increasingly...
The concept of grouping Mendelian disorders associated with an up-regulation of type I interferon has only recently been suggested. Here we discuss the...
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SubjectTerms Allergy and Immunology
Animals
Autoimmune Diseases - diagnosis
Autoimmune Diseases - drug therapy
Autoimmune Diseases - genetics
Autoimmune Diseases - metabolism
Autoimmune Diseases of the Nervous System - diagnosis
Autoimmune Diseases of the Nervous System - drug therapy
Autoimmune Diseases of the Nervous System - genetics
Autoimmune Diseases of the Nervous System - metabolism
Complement C1q - deficiency
Gene Expression Regulation
Genetic Association Studies
Humans
Interferon Type I - metabolism
Mutation
Nervous System Malformations - diagnosis
Nervous System Malformations - drug therapy
Nervous System Malformations - genetics
Nervous System Malformations - metabolism
Osteochondrodysplasias - diagnosis
Osteochondrodysplasias - drug therapy
Osteochondrodysplasias - genetics
Osteochondrodysplasias - metabolism
Phenotype
Proteasome Endopeptidase Complex - genetics
Proteasome Endopeptidase Complex - metabolism
Signal Transduction
STAT1 Transcription Factor - genetics
STAT1 Transcription Factor - metabolism
Up-Regulation
Title Type I interferonopathies: Mendelian type I interferon up-regulation
URI https://www.clinicalkey.es/playcontent/1-s2.0-S0952791514001290
https://dx.doi.org/10.1016/j.coi.2014.10.005
https://www.ncbi.nlm.nih.gov/pubmed/25463593
https://search.proquest.com/docview/1672094675
https://search.proquest.com/docview/1762372109
Volume 32
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