Life-Threatening Influenza, Hemophagocytic Lymphohistiocytosis and Probable Vaccine-Strain Varicella in a Novel Case of Homozygous
JAK-STAT signaling pathway
hyperinflammation
inborn errors of antiviral immunity
interferon stimulated gene
type I and type III interferon signaling
type I interferon
varicella zoster virus
viral disease
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2020
2020
Historique:
received:
31
10
2020
accepted:
29
12
2020
entrez:
8
3
2021
pubmed:
9
3
2021
medline:
25
6
2021
Statut:
epublish
Résumé
STAT2 is a transcription factor that plays an essential role in antiviral immunity by mediating the activity of type I and III interferons (IFN-I and IFN-III). It also has a recently established function in the negative regulation of IFN-I signaling. Homozygous STAT2 deficiency is an ultra-rare inborn error of immunity which provides unique insight into the pathologic consequence of STAT2 dysfunction. We report here a novel genetic cause of homozygous STAT2 deficiency with several notable clinical features. The proband presented aged 12 months with hemophagocytic lymphohistiocytosis (HLH) closely followed by clinical varicella, both occurring within three weeks of measles, mumps, and rubella (MMR) and varicella vaccinations. There was a history of life-threatening influenza A virus (IAV) disease 2 months previously. Genetic investigation uncovered homozygosity for a novel nonsense variant in
Identifiants
pubmed: 33679716
doi: 10.3389/fimmu.2020.624415
pmc: PMC7930908
doi:
Substances chimiques
Chickenpox Vaccine
0
Codon, Nonsense
0
STAT2 Transcription Factor
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
624415Subventions
Organisme : Wellcome Trust
ID : 207556/Z/17/Z
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 211153/Z/18/Z
Pays : United Kingdom
Informations de copyright
Copyright © 2021 Freij, Hanrath, Chen, Hambleton and Duncan.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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