Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency

Blood. 1999 Jan 15;93(2):607-12.

Abstract

X-linked severe combined immunodeficiency (X-SCID) is characterized by an absent or diminished number of T cells and natural-killer (NK) cells with a normal or elevated number of B cells, and results from mutations of the gammac chain. The gammac chain is shared by interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15 receptors. Recently, a survival signal through the IL-7 receptor alpha (IL-7Ralpha) chain was shown to be important for T-cell development in mice and was suggested to contribute to the X-SCID phenotype. In the present study, we examined function of a mutant gammac chain (A156V) isolated from an X-SCID patient and found that T cells expressing the mutant gammac chain were selectively impaired in their responses to IL-4 or IL-7 compared with the wild-type gammac chain expressing cells although responses to IL-2 or IL-15 were relatively maintained. The result shows that IL-4- and/or IL-7-induced signaling through the gammac chain is critical for T-cell development and plays an important role in the development of the X-SCID phenotype.

Publication types

  • Case Reports

MeSH terms

  • Genetic Linkage
  • Humans
  • Immunoblotting
  • Immunosorbent Techniques
  • Infant
  • Interleukin-4 / pharmacology
  • Interleukin-4 / physiology*
  • Interleukin-7 / pharmacology
  • Interleukin-7 / physiology*
  • Leukemia, T-Cell
  • Male
  • Mutation
  • Phosphotyrosine / analysis
  • Phosphotyrosine / metabolism
  • Receptors, Interleukin-2 / genetics
  • Receptors, Interleukin-7 / genetics
  • Recombinant Proteins
  • Severe Combined Immunodeficiency / genetics*
  • Signal Transduction
  • T-Lymphocytes / metabolism
  • Transfection
  • Tumor Cells, Cultured
  • X Chromosome*

Substances

  • Interleukin-7
  • Receptors, Interleukin-2
  • Receptors, Interleukin-7
  • Recombinant Proteins
  • Interleukin-4
  • Phosphotyrosine