Varaico: Literature-Extracted Genetic Variants

Gene:IFNAR1
Variant:p.W261*
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IFNAR1

NM_000629.3:p.W261*

Associated Papers

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

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.

Bucciol G et al.

The Journal of Clinical Investigation, 2023

36976641 (PubMed )
Supplement: jci-133-168321-s202.pdf

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

Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome.

Abolhassani H et al.

Journal of Clinical Immunology, 2022

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency.

Bastard P et al.

The Journal of Clinical Investigation, 2021

The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.

Elhabyan A et al.

Virus Research, 2020

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

Hernandez N et al.

The Journal of Experimental Medicine, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."