ArticleGenes and immunity2012
Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease.
Article in Genes and immunity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia.Frontiers in immunology · 2021Pooled it
- Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.Molecular medicine (Cambridge, Mass.) · 2026Review
- Identification of NovelCase reports in medicine · 2025Article
- Characteristics of the gut microbiota and the effect ofFrontiers in microbiology · 2024Article
- Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease.Journal of clinical immunology · 2023Article
- Inborn errors of immunity in mainland China: the past, present and future.BMJ paediatrics open · 2023Review
- Article
- Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.Frontiers in immunology · 2022Article
- Elevated IgA and IL-10 levels in very-early-onset inflammatory bowel disease secondary to IL-10 receptor deficiency.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2021Article
- The monogenic basis of human tuberculosis.Human genetics · 2020Review
- Gastrointestinal Disorders Associated with Primary Immunodeficiency Diseases.Clinical reviews in allergy & immunology · 2019Review
- Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.Cold Spring Harbor molecular case studies · 2019Article
- Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China.World journal of gastroenterology · 2018Article
- Transcriptional and functional profiling defines human small intestinal macrophage subsets.The Journal of experimental medicine · 2018Article
- Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.PloS one · 2018Article
- Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD).Frontiers in genetics · 2018Article
- The role of monogenic disease in children with very early onset inflammatory bowel disease.Current opinion in pediatrics · 2017Review
- A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases.Scientific reports · 2017Article
- Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework.Nucleic acids research · 2017Article
- Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inflammatory bowel disease is well recognized for a strong genetic involvement in its pathogenesis. Homozygous mutations in interleukin-10 receptor 1 (IL-10R1) identified by linkage analysis were shown to be involved in this disorder. However, the underlying molecular mechanism and the causal nature of the mutations in the disease process remain to be clarified. In this study, using whole exome sequencing, we identified novel compound heterozygous missense mutations in the extracellular domain of IL-10R1 in a Crohn's disease patient from a non-consanguineous family. These mutations did not affect IL-10R1 expression, nor IL-10 binding. However, they abrogated IL-10R1 phosphorylation induced by IL-10, therefore leading to impaired STAT3 activation and suppression of inflammatory responses. After reconstitution with wild-type IL-10R1, the patient cells showed fully restored IL-10R function including IL-10-induced STAT3 activation and expression of suppressor of cytokine signaling 3. Thus, our results demonstrated that the mutations in IL-10R1 extracellular domain impair IL-10R1 activation rather than IL-10 binding, indicating these residues are important in IL-10 signal transduction through IL-10R1. The reconstitution data also confirmed the causality of the IL-10R1 mutations.
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