T cell receptor repertoire as a potential diagnostic marker for celiac disease

Clin Immunol. 2021 Jan;222:108621. doi: 10.1016/j.clim.2020.108621. Epub 2020 Nov 13.


An individual's T cell repertoire is skewed towards some specificities as a result of past antigen exposure and subsequent clonal expansion. Identifying T cell receptor signatures associated with a disease is challenging due to the overall complexity of antigens and polymorphic HLA allotypes. In celiac disease, the antigen epitopes are well characterised and the specific HLA-DQ2-restricted T-cell repertoire associated with the disease has been explored in depth. By investigating T cell receptor repertoires of unsorted lamina propria T cells from 15 individuals, we provide the first proof-of-concept study showing that it could be possible to infer disease state by matching against a priori known disease-associated T cell receptor sequences.

Keywords: CD4+ T cells; Celiac disease; Disease inference; High-throughput sequencing; TCR repertoire.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Biomarkers
  • Celiac Disease / diagnosis*
  • Celiac Disease / immunology*
  • Epitopes, T-Lymphocyte / immunology*
  • HLA-DQ Antigens / genetics
  • HLA-DQ Antigens / immunology
  • Humans
  • Lymphocyte Activation / immunology
  • Middle Aged
  • Mucous Membrane / cytology
  • Mucous Membrane / immunology
  • Receptors, Antigen, T-Cell / immunology*
  • Young Adult


  • Biomarkers
  • Epitopes, T-Lymphocyte
  • HLA-DQ Antigens
  • HLA-DQ2 antigen
  • Receptors, Antigen, T-Cell