Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome

Blood. 1999 Nov 15;94(10):3468-78.

Abstract

Mutations in the human RAG genes that impair, but do not abolish, recombination activity lead to Omenn syndrome, a severe primary immune deficiency that is associated with clinical and pathological features of graft-versus-host disease and oligoclonal expansion of activated, autologous T cells. We have analyzed the mechanisms accounting for peripheral oligoclonality of the T-cell repertoire. Predominance of few T-cell receptor clonotypes (both within TCRAB- and within TCRGD-expressing lymphocytes) is already detectable in the thymus and is further selected for in the periphery, with a different distribution of clonotypes in different tissues. These data indicate that oligoclonality of the T-cell repertoire in Omenn syndrome is due both to intrathymic restriction and to peripheral expansion. Moreover, the RAG genes defect that causes Omenn syndrome directly affects early stages of V(D)J recombination, but does not alter the process of double-strand-break DNA repair, including N and P nucleotide insertion.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA-Binding Proteins / genetics*
  • Female
  • Genetic Variation
  • Homeodomain Proteins / genetics*
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / immunology*
  • Immunologic Deficiency Syndromes / pathology
  • Infant, Newborn
  • Leukocytes, Mononuclear / immunology
  • Molecular Sequence Data
  • Mutation
  • Nuclear Proteins
  • Receptors, Antigen, T-Cell / genetics*
  • Sequence Homology, Nucleic Acid
  • T-Lymphocytes / immunology*
  • Thymus Gland / immunology
  • Thymus Gland / pathology

Substances

  • DNA-Binding Proteins
  • Homeodomain Proteins
  • Nuclear Proteins
  • RAG2 protein, human
  • Receptors, Antigen, T-Cell
  • V(D)J recombination activating protein 2
  • RAG-1 protein

Grants and funding