ArticleJournal of human genetics2019
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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.
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Who cites it
22 citing papers in PubMed, 41 citations in OpenAlex.
- Biological consequences of Z-nucleic acid sensing by ZBP1 and ADAR1.RNA biology · 2026Review
- Human ZBP1 is a potent inducer of cell death through mechanisms divergent from mouse ZBP1.EMBO reports · 2026Article
- Monogenic disorders of the TNF signalling pathway.Nature reviews. Rheumatology · 2026Review
- Necroptotic cell death consequences and disease relevance.Nature immunology · 2025Review
- Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency.Journal of clinical immunology · 2025Article
- For Better or Worse: The Impact of Necrotic Cell Death Modalities.Advances in experimental medicine and biology · 2025Review
- Regulation of RIPK1 Phosphorylation: Implications for Inflammation, Cell Death, and Therapeutic Interventions.Biomedicines · 2024Review
- Very Early Onset of Fistulizing Inflammatory Bowel Disease With RIPK1 Mutation: A Case Report.Cureus · 2024Article
- Excessive apoptosis of Rip1-deficient T cells leads to premature aging.EMBO reports · 2023Article
- Functions of the RIP kinase family members in the skin.Cellular and molecular life sciences : CMLS · 2023Review
- Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.Journal of clinical immunology · 2022Article
- RIP kinases and necroptosis in aging and aging-related diseases.Life medicine · 2022Review
- Rare catastrophes and evolutionary legacies: human germline gene variants in MLKL and the necroptosis signalling pathway.Biochemical Society transactions · 2022Review
- The scaffold-dependent function of RIPK1 in dendritic cells promotes injury-induced colitis.Mucosal immunology · 2022Article
- RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features.Frontiers in immunology · 2022Article
- Targeting RIP Kinases in Chronic Inflammatory Disease.Biomolecules · 2021Review
- RIPK1-Associated Inborn Errors of Innate Immunity.Frontiers in immunology · 2021Review
- Regulatory mechanisms of RIPK1 in cell death and inflammation.Seminars in cell & developmental biology · 2021Review
- Primary immune regulatory disorders: a growing universe of immune dysregulation.Current opinion in allergy and clinical immunology · 2020Review
- Dysregulation of Cell Death in Human Chronic Inflammation.Cold Spring Harbor perspectives in biology · 2020Review
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 2 countries.
Funding
Abstract
Identification of genetic causes of primary monogenic immunodeficiencies would strengthen the current understanding of their immunopathology. Pathogenic variants in genes in association with tumor necrosis factor α (TNFα) signaling, including OTULIN, TNFAIP3, RBCK1, and RNF31 cause human congenital autoinflammatory diseases with/without immunodeficiency. RIPK1, encoding a receptor interacting serine/threonine kinase 1, is present in protein complexes mediating signal transduction including TNF receptor 1. Biallelic loss-of-function variants in RIPK1 were recently reported in individuals with primary immunodeficiency with intestinal bowel disease and arthritis. Here, we report a novel homozygous RIPK1 variant in a boy with immunodeficiency and chronic enteropathy. Our patient exhibited severe motor delay and mild intellectual disability, which were previously unknown. The present results are expected to deepen the current understanding of clinical features based on RIPK1 abnormalities.
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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.