Associated Papers
How loss-of-function mutations in IFIH1 contribute to infectious and/or inflammatory disease - a systematic review.
Ince I et al.
Journal of Translational Autoimmunity, 2026
Exome sequencing reveals rare loss-of-function mutations in FLG and immune genes in patients with multiple food allergies.
Khanshour AM et al.
The Journal of Allergy and Clinical Immunology, 2026
Genomic and clinical characterization of adult CVID patients: results from a single-centre turkish cohort.
Yilmaz Tekinhatun H et al.
Immunologic Research, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.
Garcia-Giralt N et al.
Human Genomics, 2024
IFIH1 loss of function predisposes to inflammatory and SARS-CoV-2-related infectious diseases.
Najm R et al.
Scandinavian Journal of Immunology, 2024
Influence of the HLA-Cw6 Allele and IFIH1/MDA5 Gene Variants on the Cardiometabolic Risk Profile of Patients with Psoriatic Disease.
Queiro R et al.
Journal of Clinical Medicine, 2024
Genetic determinants of severe COVID-19 in young Asian and Middle Eastern patients: a case series.
Badla BA et al.
Scientific Reports, 2023
The IFIH1/MDA5 rs1990760 Gene Variant (946Thr) Differentiates Early- vs. Late-Onset Skin Disease and Increases the Risk of Arthritis in a Spanish Cohort of Psoriasis.
Coto-Segura P et al.
International Journal of Molecular Sciences, 2023
Age-dependent effect of the IFIH1/MDA5 gene variants on the risk of critical COVID-19.
Muñiz-Banciella MG et al.
Immunogenetics, 2023
Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.
Reis BCSD et al.
Frontiers in Cellular and Infection Microbiology, 2023
Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children.
Abuhammour W et al.
Jama Network Open, 2022
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.
Azzarà A et al.
Plos One, 2022
MIS-C: A COVID-19-as sociated condition between hypoimmunity and hyperimmunity.
Gelzo M et al.
Frontiers in Immunology, 2022
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis.
Chen J et al.
The Journal of Experimental Medicine, 2021
The genomic landscape of pediatric rheumatology disorders in the Middle East.
Fathalla BM et al.
Human Mutation, 2021
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.
Rojas-Restrepo J et al.
Frontiers in Immunology, 2021
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.
Vidmar L et al.
Scientific Reports, 2019
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.
Emdin CA et al.
Nature Communications, 2018
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
Lamborn IT et al.
The Journal of Experimental Medicine, 2017
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Rice GI et al.
Nature Genetics, 2014
Polymorphisms in the innate immune IFIH1 gene, frequency of enterovirus in monthly fecal samples during infancy, and islet autoimmunity.
Witsø E et al.
Plos One, 2011
Loss-of-function mutations E6 27X and I923V of IFIH1 are associated with lower poly(I:C)-induced interferon-β production in peripheral blood mononuclear cells of type 1 diabetes patients.
Chistiakov DA et al.
Human Immunology, 2010