Celiac disease: how complicated can it get?

Immunogenetics. 2010 Oct;62(10):641-51. doi: 10.1007/s00251-010-0465-9. Epub 2010 Jul 27.

Abstract

In the small intestine of celiac disease patients, dietary wheat gluten and similar proteins in barley and rye trigger an inflammatory response. While strict adherence to a gluten-free diet induces full recovery in most patients, a small percentage of patients fail to recover. In a subset of these refractory celiac disease patients, an (aberrant) oligoclonal intraepithelial lymphocyte population develops into overt lymphoma. Celiac disease is strongly associated with HLA-DQ2 and/or HLA-DQ8, as both genotypes predispose for disease development. This association can be explained by the fact that gluten peptides can be presented in HLA-DQ2 and HLA-DQ8 molecules on antigen presenting cells. Gluten-specific CD4(+) T cells in the lamina propria respond to these peptides, and this likely enhances cytotoxicity of intraepithelial lymphocytes against the intestinal epithelium. We propose a threshold model for the development of celiac disease, in which the efficiency of gluten presentation to CD4(+) T cells determines the likelihood of developing celiac disease and its complications. Key factors that influence the efficiency of gluten presentation include: (1) the level of gluten intake, (2) the enzyme tissue transglutaminase 2 which modifies gluten into high affinity binding peptides for HLA-DQ2 and HLA-DQ8, (3) the HLA-DQ type, as HLA-DQ2 binds a wider range of gluten peptides than HLA-DQ8, (4) the gene dose of HLA-DQ2 and HLA-DQ8, and finally,(5) additional genetic polymorphisms that may influence T cell reactivity. This threshold model might also help to understand the development of refractory celiac disease and lymphoma.

Publication types

  • Review

MeSH terms

  • Adult
  • Antigen Presentation
  • CD4-Positive T-Lymphocytes / immunology
  • Celiac Disease / epidemiology
  • Celiac Disease / genetics
  • Celiac Disease / immunology*
  • Child
  • Child, Preschool
  • Cytotoxicity, Immunologic
  • Disease Progression
  • GTP-Binding Proteins
  • Gene Dosage
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Glutens / immunology
  • HLA-DQ Antigens / genetics
  • HLA-DQ Antigens / immunology
  • Humans
  • Immunity, Mucosal
  • Intestine, Small / immunology
  • Intestine, Small / pathology
  • Lymphoma, B-Cell, Marginal Zone / etiology
  • Models, Immunological
  • Prevalence
  • Protein Glutamine gamma Glutamyltransferase 2
  • Transglutaminases / physiology

Substances

  • HLA-DQ Antigens
  • HLA-DQ2 antigen
  • HLA-DQ8 antigen
  • TGM2 protein, human
  • Glutens
  • Protein Glutamine gamma Glutamyltransferase 2
  • Transglutaminases
  • GTP-Binding Proteins