Novel immune deficiencies: defective transcription of lymphokine genes

Clin Immunol Immunopathol. 1991 Nov;61(2 Pt 2):S16-20. doi: 10.1016/s0090-1229(05)80033-9.

Abstract

A 4-year-old female with severe combined immunodeficiency (SCID) had normal numbers of T cells in circulation and normal T cell subsets. However, her T cells proliferated poorly to mitogens and did not proliferate to antigens or to anti-CD3 mAb. Interleukin-2 (IL-2) receptor expression was normal but IL-2 synthesis was undetectable. The addition of recombinant IL-2 to a mitogen-stimulated culture resulted in normalization of the proliferative response. Northern blot analysis of total RNA derived from the patient's T cells revealed a weak or absent expression of mRNA coding for IL-2, IL-3, IL-4, and IL-5. In contrast, there were normal amounts of mRNA coding for granulocyte-macrophage colony-stimulating factor (GM-CSF). Tumor necrosis factor and IL-6 production was also normal. Nuclear run on transcriptional assays revealed markedly decreased levels of newly initiated nuclear transcripts coding for IL-2, IL-3, IL-4, and IL-5 and normal levels of GM-CSF transcripts in patient relative to control lymphocytes. These results indicate that the patient's T cells suffered from a defect affecting the transcription of multiple T cell lymphokines and suggest that abnormalities affecting the production of T cell lymphokines may underlie some of the primary immunodeficiency diseases.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow Transplantation
  • Child, Preschool
  • Female
  • Flow Cytometry
  • Granulocyte-Macrophage Colony-Stimulating Factor / biosynthesis
  • Humans
  • Interferon-gamma / biosynthesis
  • Interleukin-2 / biosynthesis
  • Interleukin-2 / pharmacology
  • Interleukin-3 / biosynthesis
  • Interleukin-4 / biosynthesis
  • Lymphokines / genetics*
  • RNA, Messenger / biosynthesis
  • Severe Combined Immunodeficiency / immunology*
  • Severe Combined Immunodeficiency / metabolism
  • Severe Combined Immunodeficiency / therapy
  • Signal Transduction
  • T-Lymphocytes / immunology
  • Transcription, Genetic
  • Up-Regulation

Substances

  • Interleukin-2
  • Interleukin-3
  • Lymphokines
  • RNA, Messenger
  • Interleukin-4
  • Interferon-gamma
  • Granulocyte-Macrophage Colony-Stimulating Factor