T cells from hemophilia A subjects recognize the same HLA-restricted FVIII epitope with a narrow TCR repertoire

Blood. 2016 Oct 20;128(16):2043-2054. doi: 10.1182/blood-2015-11-682468. Epub 2016 Jul 28.

Abstract

Factor VIII (FVIII)-neutralizing antibodies ("inhibitors") are a serious problem in hemophilia A (HA). The aim of this study was to characterize HLA-restricted T-cell responses from a severe HA subject with a persistent inhibitor and from 2 previously studied mild HA inhibitor subjects. Major histocompatibility complex II tetramers corresponding to both of the severe HA subject's HLA-DRA-DRB1 alleles were loaded with peptides spanning FVIII-A2, C1, and C2 domains. Interestingly, only 1 epitope was identified, in peptide FVIII2194-2213, and it was identical to the HLA-DRA*01-DRB1*01:01-restricted epitope recognized by the mild HA subjects. Multiple T-cell clones and polyclonal lines having different avidities for the peptide-loaded tetramer were isolated from all subjects. Only high- and medium-avidity T cells proliferated and secreted cytokines when stimulated with FVIII2194-2213 T-cell receptor β (TCRB) gene sequencing of 15 T-cell clones from the severe HA subject revealed that all high-avidity clones expressed the same TCRB gene. High-throughput immunosequencing of high-, medium-, and low-avidity cells sorted from a severe HA polyclonal line revealed that 94% of the high-avidity cells expressed the same TCRB gene as the high-avidity clones. TCRB sequencing of clones and lines from the mild HA subjects also identified a limited TCRB gene repertoire. These results suggest a limited number of epitopes in FVIII drive inhibitor responses and that the T-cell repertoires of FVIII-responsive T cells can be quite narrow. The limited diversity of both epitopes and TCRB gene usage suggests that targeting of specific epitopes and/or T-cell clones may be a promising approach to achieve tolerance to FVIII.

Publication types

  • Clinical Trial
  • Multicenter Study

MeSH terms

  • Adolescent
  • Autoantibodies / genetics
  • Autoantibodies / immunology
  • Blood Coagulation Factor Inhibitors / genetics
  • Blood Coagulation Factor Inhibitors / immunology
  • Child
  • Child, Preschool
  • Epitopes, T-Lymphocyte* / genetics
  • Epitopes, T-Lymphocyte* / immunology
  • Factor VIII* / genetics
  • Factor VIII* / immunology
  • HLA Antigens / genetics
  • HLA Antigens / immunology
  • Hemophilia A* / genetics
  • Hemophilia A* / immunology
  • Humans
  • Male
  • Receptors, Antigen, T-Cell, alpha-beta* / genetics
  • Receptors, Antigen, T-Cell, alpha-beta* / immunology
  • T-Lymphocytes / immunology*

Substances

  • Autoantibodies
  • Blood Coagulation Factor Inhibitors
  • Epitopes, T-Lymphocyte
  • HLA Antigens
  • Receptors, Antigen, T-Cell, alpha-beta
  • F8 protein, human
  • Factor VIII