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| http://dx.doi.org/10.3389/fimmu.2024.1462628 | DOI Listing |
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A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
J Exp Med
February 2025
St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Autosomal recessive deficiency of the IFNAR1 or IFNAR2 chain of the human type I IFN receptor abolishes cellular responses to IFN-α, -β, and -ω, underlies severe viral diseases, and is globally very rare, except for IFNAR1 and IFNAR2 deficiency in Western Polynesia and the Arctic, respectively. We report 11 human IFNAR1 alleles, the products of which impair but do not abolish responses to IFN-α and -ω without affecting responses to IFN-β. Ten of these alleles are rare in all populations studied, but the remaining allele (P335del) is common in Southern China (minor allele frequency ≈2%).
View Article and Find Full Text PDFAssociation study of the JAK/STAT signaling pathway with susceptibility to COVID-19 in moroccan patient and in-silico analysis of rare variants.
Virus Res
December 2024
Genetics Unit, Military Hospital Mohammed V, Rabat, Morocco; Laboratories Pole, Military Hospital Mohammed V, Rabat, Morocco. Electronic address:
The goal of our study was to explore the association of the polymorphisms in the JAK/STAT pathway among Moroccan COVID-19 patients, using a case-control approach. Next-generation sequencing was employed to investigate the IFNAR1, IFNAR2, JAK1, TYK2, STAT2, and IRF9 genes within the JAK/STAT pathway. We also performed an in silico study to examine the rare variants in this pathway.
View Article and Find Full Text PDFIntegrated bioinformatics analysis and in vivo validation of potential immune-related genes linked to diabetic nephropathy.
Heliyon
November 2024
Department of Endocrinology, the First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, 350005, China.
Background: Diabetic nephropathy (DN) is a common microvascular complication of diabetes mellitus and the main cause of chronic renal failure. This study explored the potential immunomodulation-related genes (IRGs) in DN using bioinformatics.
Methods: IRGs were identified using GeneCards, and differentially expressed genes were identified using the GSE99339, GSE96804, and GSE30122 datasets.
Expression of interferon-stimulated genes, but not polymorphisms in the interferon α/β receptor 2 gene, is associated with coronavirus disease 2019 mortality.
Heliyon
October 2024
Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
Excessive inflammatory response is a hallmark of severe COVID-19. This study investigated the associations between interferon-stimulated genes (ISGs) expression, genetic variation in the interferon α/β receptor 2 (IFNAR2) gene, and COVID-19 mortality. We investigated 67 patients with moderate-to-severe COVID-19.
View Article and Find Full Text PDFAssociation of IFNAR2 and TYK2 with COVID-19 pathology: current and future.
Front Immunol
October 2024
Department of Molecular Predictive Medicine and Sport Science, Kyorin University Faculty of Medicine, Mitaka, Japan.
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