Detection of interferon alpha and beta receptor subunit 1 (IFNAR1) loss-of-function Glu386∗ variant by tri-allelic genotyping-Reference-Cited by-同舟云学术

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Detection of interferon alpha and beta receptor subunit 1 (IFNAR1) loss-of-function Glu386∗ variant by tri-allelic genotyping

Published:2024-02 Issue:1 Volume:56 Page:92-97
ISSN:0031-3025
Container-title:Pathology
language:en
Short-container-title:Pathology

Author:

Woon See-Tarn^ORCID,Tjandra Felicia,Mackay John,Lumley Thomas,Grainger Pippa,Wood Andrew^ORCID,Hsiao Kuang-Chih,Ameratunga Rohan

Funder

Ministry of Health, New Zealand

Ministry of Health

Publisher

Elsevier BV

Subject

Pathology and Forensic Medicine

Reference29 articles.

1. Viral infections in humans and mice with genetic deficiencies of the type I IFN response pathway;Meyts;Eur J Immunol,2021

2. A case of autosomal recessive interferon alpha/beta receptor alpha chain (IFNAR1) deficiency with severe COVID-19;Khanmohammadi;J Clin Immunol,2022

3. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19;Zhang;Science,2020

4. Inherited IFNAR1 deficiency in a child with both critical COVID-19 pneumonia and multisystem inflammatory syndrome;Abolhassani;J Clin Immunol,2022

5. Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency;Bastard;J Clin Invest,2021

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. 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;Journal of Clinical Immunology;2024-08-05

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