Associated Papers
Monogenic disorders of immunity: Common variants are not so rare.
Béziat V et al.
Cell Genomics, 2026
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F et al.
The Journal of Experimental Medicine, 2025
39680367 (PubMed )
Supplement: jem_20241413_sourcedataf3.pdf
Severe Adverse Reaction to Measles Vaccine Due to Homozygous Mutation in the IFNAR2 Gene: A Case Report and Literature Review.
Adi G et al.
Journal of Clinical Immunology, 2024
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
Huynh A et al.
Journal of Clinical Immunology, 2024
Inborn errors of immunity: an expanding universe of disease and genetic architecture.
Akalu YT et al.
Nature Reviews. Genetics, 2024
Detection of interferon alpha and beta receptor subunit 1 (IFNAR1) loss-of-function Glu386∗ variant by tri-allelic genotyping.
Woon ST et al.
Pathology, 2024
Neurologic complications in herpes simplex encephalitis: clinical, immunological and genetic studies.
Armangué T et al.
Brain : a Journal of Neurology, 2023
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
Bastard P et al.
The Journal of Experimental Medicine, 2022
Null IFNAR1 and IFNAR2 alleles are surprisingly common in the Pacific and Arctic.
Meyts I
The Journal of Experimental Medicine, 2022
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