ArticleFrontiers in immunology2022
Single-Cell RNA Sequencing of Peripheral Blood Mononuclear Cells From Pediatric Coeliac Disease Patients Suggests Potential Pre-Seroconversion Markers.
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 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Single-cell transcriptome landscape of circulating CD4Cell genomics · 2024Pooled it
- Gliadin-specific CD4Science advances · 2026Article
- Transcriptomics and eQTLs reveal inflammatory heterogeneity in the duodenal lining in coeliac disease.Genes and immunity · 2025Article
- scMetaIntegrator: a meta-analysis approach to paired single-cell differential expression analysis.bioRxiv : the preprint server for biology · 2025Article
- Immune-epithelial-stromal networks define the cellular ecosystem of the small intestine in celiac disease.Nature immunology · 2025Article
- Single cell transcriptome sequencing indicates the cellular heterogeneity of small intestine tissue in celiac disease.Scientific reports · 2025Article
- Deep learning-aided inter-species-comparison reveals shared and distinct molecular patterns in cynomolgus monkey and humans following non-specific T cell activation.Frontiers in immunology · 2025Article
- Single-cell RNA-sequencing reveals a profound immune cell response in human cytomegalovirus-infected humanized mice.Virologica Sinica · 2024Article
- q-Diffusion leverages the full dimensionality of gene coexpression in single-cell transcriptomics.Communications biology · 2024Article
- IL-10-producing regulatory cells impact on celiac disease evolution.Clinical immunology (Orlando, Fla.) · 2024Article
- ISLET: individual-specific reference panel recovery improves cell-type-specific inference.Genome biology · 2023Observational
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Authors and funding
12 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Celiac Disease (CeD) is a complex immune disorder involving villous atrophy in the small intestine that is triggered by gluten intake. Current CeD diagnosis is based on late-stage pathophysiological parameters such as detection of specific antibodies in blood and histochemical detection of villus atrophy and lymphocyte infiltration in intestinal biopsies. To date, no early onset biomarkers are available that would help prevent widespread villous atrophy and severe symptoms and co-morbidities. To search for novel CeD biomarkers, we used single-cell RNA sequencing (scRNAseq) to investigate PBMC samples from 11 children before and after seroconversion for CeD and 10 control individuals matched for age, sex and HLA-genotype. We generated scRNAseq profiles of 9559 cells and identified the expected major cellular lineages. Cell proportions remained stable across the different timepoints and health conditions, but we observed differences in gene expression profiles in specific cell types when comparing patient samples before and after disease development and comparing patients with controls. Based on the time when transcripts were differentially expressed, we could classify the deregulated genes as biomarkers for active CeD or as potential pre-diagnostic markers. Pathway analysis showed that active CeD biomarkers display a transcriptional profile associated with antigen activation in CD4+ T cells, whereas NK cells express a subset of biomarker genes even before CeD diagnosis. Intersection of biomarker genes with CeD-associated genetic risk loci pinpointed genetic factors that might play a role in CeD onset. Investigation of potential cellular interaction pathways of PBMC cell subpopulations highlighted the importance of TNF pathways in CeD. Altogether, our results pinpoint genes and pathways that are altered prior to and during CeD onset, thereby identifying novel potential biomarkers for CeD diagnosis in blood.
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