Role of the thymus in spontaneous development of a multi-organ autoimmune disease in human immune system mice

J Autoimmun. 2021 May:119:102612. doi: 10.1016/j.jaut.2021.102612. Epub 2021 Feb 19.

Abstract

We evaluated the role of the thymus in development of multi-organ autoimmunity in human immune system (HIS) mice. T cells were essential for disease development and the same T cell clones with varying phenotypes infiltrated multiple tissues. De novo-generated hematopoietic stem cell (HSC)-derived T cells were the major disease drivers, though thymocytes pre-existing in grafted human thymi contributed if not first depleted. HIS mice with a native mouse thymus developed disease earlier than thymectomized mice with a thymocyte-depleted human thymus graft. Defective structure in the native mouse thymus was associated with impaired negative selection of thymocytes expressing a transgenic TCR recognizing a self-antigen. Disease developed without direct recognition of antigens on recipient mouse MHC. While human thymus grafts had normal structure and negative selection, failure to tolerize human T cells recognizing mouse antigens presented on HLA molecules may explain eventual disease development. These new insights have implications for human autoimmunity and suggest methods of avoiding autoimmunity in next-generation HIS mice.

Keywords: Autoimmunity; Humanized mouse; Indirect antigen presentation; Regulatory T cell; TCR repertoire; Thymic selection.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antigens
  • Autoimmune Diseases / etiology*
  • Autoimmune Diseases / metabolism*
  • Autoimmune Diseases / pathology
  • Autoimmunity*
  • Biomarkers
  • Clonal Selection, Antigen-Mediated / immunology
  • Disease Models, Animal
  • Disease Susceptibility / immunology*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Immunohistochemistry
  • Immunophenotyping
  • Lymphopoiesis / genetics
  • Lymphopoiesis / immunology
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Organ Specificity / immunology
  • Receptors, Antigen, T-Cell / genetics
  • Receptors, Antigen, T-Cell / metabolism
  • Receptors, Antigen, T-Cell, alpha-beta / genetics
  • Receptors, Antigen, T-Cell, alpha-beta / metabolism
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism
  • Thymus Gland / immunology*
  • Thymus Gland / metabolism*

Substances

  • Antigens
  • Biomarkers
  • Receptors, Antigen, T-Cell
  • Receptors, Antigen, T-Cell, alpha-beta