Trial reportHuman genetics2021
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Trial report in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 44 citations in OpenAlex.
- How loss-of-function mutations inJournal of translational autoimmunity · 2026Review
- Mapping the gene regulatory landscape of archaic hominin introgression in modern Papuans.PLoS genetics · 2026Article
- Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.Molecular medicine (Cambridge, Mass.) · 2026Review
- Luteolin ameliorates steroid-induced osteonecrosis of the femoral head via a gut microbiota-L-Carnitine-IFIH1 axis.Journal of translational medicine · 2026Article
- Inhibition of DDX5-Mediated G-Quadruplex Unwinding in the β-Catenin 5'-UTR by Magnesium Isoglycyrrhizinate Alleviates Chemotherapy-Induced Intestinal Injury.Research (Washington, D.C.) · 2026Article
- Genome-Wide Aggregated Trans-Effects Analysis Implicates Deficient Type III Interferon Signaling as a Key Cause of Inflammatory Bowel Disease.Inflammatory bowel diseases · 2025Article
- MDA5 variants trade antiviral activity for protection from autoimmune disease.BMC medical genomics · 2025Article
- Exploring the Gut Microbiota-Retina Axis: Implications for Health and Disease.Microorganisms · 2025Review
- Identifying a Genetic Link Between Lung Function and Psoriasis.Annals of human genetics · 2025Article
- Cell-Autonomous Immunity: From Cytosolic Sensing to Self-Defense.International journal of molecular sciences · 2025Review
- Genetic causes of primary immunodeficiency in the Jordanian population.Biomedical reports · 2024Article
- Article
- Multifaceted roles of RNA editing enzyme ADAR1 in innate immunity.RNA (New York, N.Y.) · 2024Article
- DHX9 maintains epithelial homeostasis by restraining R-loop-mediated genomic instability in intestinal stem cells.Nature communications · 2024Article
- Evidence for the gut-skin axis: Common genetic structures in inflammatory bowel disease and psoriasis.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2024Article
- Advances and optimization strategies in bacteriophage therapy for treating inflammatory bowel disease.Frontiers in immunology · 2024Review
- Location-based prediction model for Crohn's disease regarding a novel serological marker, anti-chitinase 3-like 1 autoantibodies.World journal of gastroenterology · 2023Article
- A frameshift variant in theFrontiers in genetics · 2023Article
- Pneumatosis cystoides intestinalis in dermatomyositis: a case series report and literature review.Frontiers in immunology · 2023Review
- Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.PLoS genetics · 2022Article
Corrections and comments
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Authors and funding
30 authors at 6 institutions in 3 countries.
Funding
Abstract
Genetic defects of innate immunity impairing intestinal bacterial sensing are linked to the development of Inflammatory Bowel Disease (IBD). Although much evidence supports a role of the intestinal virome in gut homeostasis, most studies focus on intestinal viral composition rather than on host intestinal viral sensitivity. To demonstrate the association between the development of Very Early Onset IBD (VEOIBD) and variants in the IFIH1 gene which encodes MDA5, a key cytosolic sensor for viral nucleic acids. Whole exome sequencing (WES) was performed in two independent cohorts of children with VEOIBD enrolled in Italy (n = 18) and USA (n = 24). Luciferase reporter assays were employed to assess MDA5 activity. An enrichment analysis was performed on IFIH1 comparing 42 VEOIBD probands with 1527 unrelated individuals without gastrointestinal or immunological issues. We identified rare, likely loss-of-function (LoF), IFIH1 variants in eight patients with VEOIBD from a combined cohort of 42 children. One subject, carrying a homozygous truncating variant resulting in complete LoF, experienced neonatal-onset, pan-gastrointestinal, IBD-like enteropathy plus multiple infectious episodes. The remaining seven subjects, affected by VEOIBD without immunodeficiency, were carriers of one LoF variant in IFIH1. Among these, two patients also carried a second hypomorphic variant, with partial function apparent when MDA5 was weakly stimulated. Furthermore, IFIH1 variants were significantly enriched in children with VEOIBD as compared to controls (p = 0.007). Complete and partial MDA5 deficiency is associated with VEOIBD with variable penetrance and expressivity, suggesting a role for impaired intestinal viral sensing in IBD pathogenesis.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.