Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in
Journal
Science immunology
ISSN: 2470-9468
Titre abrégé: Sci Immunol
Pays: United States
ID NLM: 101688624
Informations de publication
Date de publication:
13 12 2019
13 12 2019
Historique:
received:
16
10
2018
revised:
29
07
2019
accepted:
14
11
2019
entrez:
15
12
2019
pubmed:
15
12
2019
medline:
4
7
2020
Statut:
ppublish
Résumé
Excessive type I interferon (IFNα/β) activity is implicated in a spectrum of human disease, yet its direct role remains to be conclusively proven. We investigated two siblings with severe early-onset autoinflammatory disease and an elevated IFN signature. Whole-exome sequencing revealed a shared homozygous missense Arg148Trp variant in
Identifiants
pubmed: 31836668
pii: 4/42/eaav7501
doi: 10.1126/sciimmunol.aav7501
pmc: PMC7115903
mid: EMS86640
pii:
doi:
Substances chimiques
Interferon Type I
0
STAT2 Transcription Factor
0
STAT2 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Department of Health
ID : TRF-2016-09-002
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 101788
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_16054
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 101788/Z/13/Z
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 211153/Z/18/Z
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 207556
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N013840/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 211153
Pays : United Kingdom
Organisme : MRF
ID : MRF_MRF-159-0002-ELP-BRIGG
Pays : United Kingdom
Organisme : European Research Council
ID : 309449
Pays : International
Organisme : Wellcome Trust
ID : 207556/Z/17/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/R000913/1
Pays : United Kingdom
Informations de copyright
Copyright © 2019 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.
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