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Primary immunodeficiency

Gene: IFNAR1

Amber List (moderate evidence)

IFNAR1 (interferon alpha and beta receptor subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000142166
EnsemblGeneIds (GRCh37): ENSG00000142166
OMIM: 107450, Gene2Phenotype
IFNAR1 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. However, the publications listed below give evidence that the three LOF variants in two unrelated cases are associated with an adverse reaction to attenuated virus vaccines, which are rescued by wt IFNAR1 protein in vitro.
Created: 6 Apr 2020, 1:57 p.m. | Last Modified: 6 Apr 2020, 1:57 p.m.
Panel Version: 2.42
Comment on publications: PMID 31270247: reports two cases of healthy children with adverse reactions to live attuated virus vaccines. Each had biallelic loss-of-function IFNAR1 variations and the effects of these was demonstrated by the patient-derived fibroblasts being susceptible to viruses. This effect was recused by the WT IFNAR1.
PMID 26676772: reports the tageted degradation of IFNAR1 protein by
Influenza A virus (IAV), allowing the virus to escape the powerful innate immune system. Thus the loss of function of IFNAR1 would increase the susceptability to viral infection.
PMID 20020050: reports the tageted degradation of IFNAR1 protein by Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV). Confocal microscopic analysis showed increased translocation of IFNAR1 into the lysosomal compartment and flow cytometry showed reduced levels of IFNAR1 in 3a-expressing cells.
Created: 6 Apr 2020, 11:40 a.m. | Last Modified: 6 Apr 2020, 11:40 a.m.
Panel Version: 2.41
Hypothesis from Abdelazeem Elhabyan (Tanta University Hospitals): this gene is involved in the interferon-mediated immune response to viruses of those is SARS Coronavirus (2003) which down-regulates the IFNAR1 receptors through its 3a protein. Additionally, Influenzavirus A suppress immune response by downregulation of this gene. It has been also linked to adverse reactions to measles and yellow fever vaccines in healthy individuals.
Sources: Expert Review, Literature
Created: 6 Apr 2020, 11:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
IFNAR1 associated adverse reactions to certain live attenuated viral vaccines

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review
Phenotypes
  • IFNAR1 associated adverse reactions to certain live attenuated viral vaccines
OMIM
107450
Clinvar variants
Variants in IFNAR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ifnar1 has been classified as Amber List (Moderate Evidence).

6 Apr 2020, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: IFNAR1 were set to 31270247; 26676772; 20020050

6 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: IFNAR1 was added gene: IFNAR1 was added to Primary immunodeficiency. Sources: Expert Review,Literature Mode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFNAR1 were set to 31270247; 26676772; 20020050 Phenotypes for gene: IFNAR1 were set to IFNAR1 associated adverse reactions to certain live attenuated viral vaccines Review for gene: IFNAR1 was set to AMBER