Inborn errors of STAT1 immunity.

Alleles Gain of Function Mutation Genes, Dominant Genes, Recessive Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Immunity / genetics Mutation Phenotype Phosphorylation STAT1 Transcription Factor / genetics

Journal

Current opinion in immunology
ISSN: 1879-0372
Titre abrégé: Curr Opin Immunol
Pays: England
ID NLM: 8900118

Informations de publication

Date de publication:
10 2021
Historique:
received: 24 12 2020
revised: 27 02 2021
accepted: 27 02 2021
pubmed: 12 4 2021
medline: 11 3 2022
entrez: 11 4 2021
Statut: ppublish

Résumé

Signal transducer and activator of transcription 1 (STAT1) is a latent cytoplasmic transcription factor that is activated by multiple stimuli, including type I, II, and III interferons and interleukin-27. Inborn errors of human STAT1 immunity underlie 4 distinct disorders: autosomal recessive (AR) complete STAT1 deficiency, AR partial STAT1 deficiency, autosomal dominant (AD) STAT1 deficiency, and AD STAT1 gain-of-function. Each disease presents distinct clinical manifestations, excluding the difference in two AR STAT1 deficiencies, which are mainly explained by severity. This observation reflects the multiple and complex roles of STAT1 and how STAT1-mediated signaling is finely tuned in host immune systems.

Identifiants

DOI: 10.1016/j.coi.2021.02.009 PMID: 33839590
pubmed: 33839590
pii: S0952-7915(21)00019-4
doi: 10.1016/j.coi.2021.02.009
pii:
doi:

Substances chimiques

STAT1 Transcription Factor 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

59-64

Informations de copyright

Copyright © 2021 Elsevier Ltd. All rights reserved.

Auteurs

Yoko Mizoguchi (Y)

Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.

Satoshi Okada (S)

Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan. Electronic address: sokada@hiroshima-u.ac.jp.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › Inborn errors of STAT1 immunity.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation gain de fonction › Inborn errors of STAT1 immunity.
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes dominants › Inborn errors of STAT1 immunity.
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes récessifs › Inborn errors of STAT1 immunity.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Inborn errors of STAT1 immunity.
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Inborn errors of STAT1 immunity.
questionsmedicales.fr › Phénomènes génétiques › Génotype › Inborn errors of STAT1 immunity.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Inborn errors of STAT1 immunity.
questionsmedicales.fr › Phénomènes du système immunitaire › Immunité › Inborn errors of STAT1 immunity.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Inborn errors of STAT1 immunity.
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Inborn errors of STAT1 immunity.
questionsmedicales.fr › Métabolisme › Phosphorylation › Inborn errors of STAT1 immunity.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteurs de transcription STAT › Facteur de transcription STAT-1 › Inborn errors of STAT1 immunity.