ArticlePloS one2018
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 3 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 3 syntheses or guidelines pooled it, 15 citations in OpenAlex.
- Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.Journal of Crohn's & colitis · 2023Pooled it
- The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review.Clinical and experimental immunology · 2022Pooled it
- A Systematic Review of Monogenic Inflammatory Bowel Disease.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2022Pooled it
- A Comprehensive Review of IL-10 and IL-10 Receptor Deficiencies: From Basic Science to Clinical Bedside.Clinical reviews in allergy & immunology · 2026Review
- Asian-Pacific perspectives on the management of very early-onset inflammatory bowel disease.Intestinal research · 2025Review
- Clinical and cellular phenotypes resulting from a founder mutation in IL10RB.Clinical and experimental immunology · 2024Article
- Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.The Journal of clinical investigation · 2023Article
- Article
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- Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency.The Journal of clinical investigation · 2021Article
- Interferon-Driven Immune Dysregulation in Down Syndrome: A Review of the Evidence.Journal of inflammation research · 2021Review
- Human genetics of life-threatening influenza pneumonitis.Human genetics · 2020Review
- Article
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Authors and funding
22 authors at 5 institutions in 3 countries.
Funding
Abstract
Mutations in interleukin-10 receptor (IL-10R) genes are one cause of very early-onset inflammatory bowel disease with perianal lesions, which can be cured by hematopoietic stem cell transplantation. Using a functional test, which assesses responsiveness of peripheral monocytes to IL-10, we identified three unrelated Portuguese patients carrying two novel IL-10RB mutations. In the three patients, sequencing of genomic DNA identified the same large deletion of exon 3 which precluded protein expression. This mutation was homozygous in two patients born from consanguineous families and heterozygous in the third patient born from unrelated parents. Microsatellite analysis of the IL10RB genomic region revealed a common haplotype in the three Portuguese families pointing to a founder deletion inherited from a common ancestor 400 years ago. In the third patient, surface expression of IL-10R was normal but signaling in response to IL-10 was impaired. Complementary DNA sequencing and next-generation sequencing of IL10RB locus with custom-made probes revealed a ≈ 6 Kb duplication encompassing the exon 6 which leads to a frameshift mutation and a loss of the TYK2-interacting Box 2 motif. Altogether, we describe two novel copy number variations in IL10RB, one with founder effect and one preserving cell surface expression but abolishing signaling.
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