ArticleFrontiers in immunology2022
RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features.
Article in Frontiers in immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- A Randomized Phase I Trial Evaluating Safety and Pharmacokinetics of Single and Multiple Ascending Doses of Eclitasertib, a RIPK1 Inhibitor, in Healthy Participants.Advances in therapy · 2025Trial
- The dual role of RIPK family in IBD: from cell death to therapeutic targeting.Molecular medicine (Cambridge, Mass.) · 2026Review
- Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.Molecular medicine (Cambridge, Mass.) · 2026Review
- Monogenic disorders of the TNF signalling pathway.Nature reviews. Rheumatology · 2026Review
- Monogenic inflammatory bowel disease: An unfolding enigma.World journal of clinical pediatrics · 2025Review
- RIPK1 signaling pathways: implications for autoimmune and neuroinflammatory diseases.Frontiers in immunology · 2025Review
- Decoding the mosaic of inflammatory bowel disease: Illuminating insights with single-cell RNA technology.Computational and structural biotechnology journal · 2024Review
- Blockade of IKK signaling induces RIPK1-independent apoptosis in human macrophages.PLoS pathogens · 2024Article
- RIPK1 protects naive and regulatory T cells from TNFR1-induced apoptosis.Cell death and differentiation · 2024Article
- Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion.Journal of clinical immunology · 2024Article
- Very Early Onset of Fistulizing Inflammatory Bowel Disease With RIPK1 Mutation: A Case Report.Cureus · 2024Article
- The Function of Necroptosis and Its Treatment Target in IBD.Mediators of inflammation · 2024Review
- Roles of RIPK1 as a stress sentinel coordinating cell survival and immunogenic cell death.Nature reviews. Molecular cell biology · 2023Review
- Functions of the RIP kinase family members in the skin.Cellular and molecular life sciences : CMLS · 2023Review
- Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency.Science immunology · 2023Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Receptor-interacting serine/threonine-protein kinase 1 Methods: Whole exome and Sanger sequencing was performed in two IBD patients. Mass cytometry time of flight (CyTOF) was conducted for in-depth immunophenotyping on one of the patient's peripheral blood mononuclear cells, and compared to control subjects and patients with Crohn's disease. Results: The patients presented with severe colitis and perianal fistulas in the first months of life, without severe/atypical infections. Genetic studies identified pathogenic genetic variants in Conclusions: Mutations in
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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.