Associated Papers
Potential Role of IFIH1 Gene Variant in Autoimmune Hemolytic Anemia: A Case Report.
Özay M et al.
Journal of Pediatric Hematology/oncology, 2026
Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene.
Sonehara K et al.
Cell Genomics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
A validated heart-specific model for splice-disrupting variants in childhood heart disease.
Lesurf R et al.
Genome Medicine, 2024
IFIH1 loss of function predisposes to inflammatory and SARS-CoV-2-related infectious diseases.
Najm R et al.
Scandinavian Journal of Immunology, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Attempts to identify the molecular cause of autoinflammatory recurrent fever.
Boyarchuk O et al.
Reumatologia, 2024
Genetic insights into MIS-C Post-COVID-19 in Kuwaiti children: investigating monogenic factors.
Dashti M et al.
Frontiers in Cellular and Infection Microbiology, 2024
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
Carrera P et al.
Diabetologia, 2023
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.
Azzarà A et al.
Plos One, 2022
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Cananzi M et al.
Human Genetics, 2021
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
Luo H et al.
European Journal of Human Genetics : Ejhg, 2021
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
Papa R et al.
Rheumatology (oxford, England), 2020
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.
Vidmar L et al.
Scientific Reports, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
Lamborn IT et al.
The Journal of Experimental Medicine, 2017
The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity.
Gorman JA et al.
Nature Immunology, 2017
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
Visschedijk MC et al.
Plos One, 2016
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