A human autoimmune organoid model reveals IL-7 function in coeliac disease

Nature. 2024 Aug;632(8024):401-410. doi: 10.1038/s41586-024-07716-2. Epub 2024 Jul 24.

Abstract

In vitro models of autoimmunity are constrained by an inability to culture affected epithelium alongside the complex tissue-resident immune microenvironment. Coeliac disease (CeD) is an autoimmune disease in which dietary gluten-derived peptides bind to the major histocompatibility complex (MHC) class II human leukocyte antigen molecules (HLA)-DQ2 or HLA-DQ8 to initiate immune-mediated duodenal mucosal injury1-4. Here, we generated air-liquid interface (ALI) duodenal organoids from intact fragments of endoscopic biopsies that preserve epithelium alongside native mesenchyme and tissue-resident immune cells as a unit without requiring reconstitution. The immune diversity of ALI organoids spanned T cells, B and plasma cells, natural killer (NK) cells and myeloid cells, with extensive T-cell and B-cell receptor repertoires. HLA-DQ2.5-restricted gluten peptides selectively instigated epithelial destruction in HLA-DQ2.5-expressing organoids derived from CeD patients, and this was antagonized by blocking MHC-II or NKG2C/D. Gluten epitopes stimulated a CeD organoid immune network response in lymphoid and myeloid subsets alongside anti-transglutaminase 2 (TG2) autoantibody production. Functional studies in CeD organoids revealed that interleukin-7 (IL-7) is a gluten-inducible pathogenic modulator that regulates CD8+ T-cell NKG2C/D expression and is necessary and sufficient for epithelial destruction. Furthermore, endogenous IL-7 was markedly upregulated in patient biopsies from active CeD compared with remission disease from gluten-free diets, predominantly in lamina propria mesenchyme. By preserving the epithelium alongside diverse immune populations, this human in vitro CeD model recapitulates gluten-dependent pathology, enables mechanistic investigation and establishes a proof of principle for the organoid modelling of autoimmunity.

MeSH terms

  • Autoantibodies / immunology
  • Autoimmunity
  • B-Lymphocytes / immunology
  • B-Lymphocytes / metabolism
  • Biopsy
  • Celiac Disease* / immunology
  • Celiac Disease* / metabolism
  • Celiac Disease* / pathology
  • Duodenum* / immunology
  • Duodenum* / metabolism
  • Duodenum* / pathology
  • Epitopes / immunology
  • GTP-Binding Proteins / immunology
  • GTP-Binding Proteins / metabolism
  • Glutens / immunology
  • Glutens / metabolism
  • HLA-DQ Antigens / immunology
  • HLA-DQ Antigens / metabolism
  • Humans
  • Interleukin-7* / metabolism
  • Intestinal Mucosa* / immunology
  • Intestinal Mucosa* / metabolism
  • Intestinal Mucosa* / pathology
  • Killer Cells, Natural / immunology
  • Models, Biological*
  • Myeloid Cells / immunology
  • Organoids* / immunology
  • Organoids* / metabolism
  • Organoids* / pathology
  • Protein Glutamine gamma Glutamyltransferase 2 / immunology
  • Receptors, Antigen, B-Cell / immunology
  • Receptors, Antigen, B-Cell / metabolism
  • Receptors, Antigen, T-Cell / immunology
  • Receptors, Antigen, T-Cell / metabolism
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism

Substances

  • Autoantibodies
  • Epitopes
  • Glutens
  • GTP-Binding Proteins
  • HLA-DQ Antigens
  • HLA-DQ2 antigen
  • Interleukin-7
  • KLRC2 protein, human
  • KLRK1 protein, human
  • Protein Glutamine gamma Glutamyltransferase 2
  • Receptors, Antigen, B-Cell
  • Receptors, Antigen, T-Cell