Mutations in the gene for the IL-7 receptor result in T(-)B(+)NK(+) severe combined immunodeficiency disease

Curr Opin Immunol. 2000 Aug;12(4):468-73. doi: 10.1016/s0952-7915(00)00122-9.

Abstract

Recently, two SCID (severe combined immunodeficiency disease) patients with greatly diminished T cells but normal or increased numbers of B and NK cells (T(-)B(+)NK(+) SCID) were found to have mutations in the gene for the IL-7 receptor. This has established a major role for IL-7-receptor-dependent signaling in T cell development in humans and probably explains the diminished T cell numbers seen in patients with X-linked SCID or SCID that results from Jak3-deficiency.

Publication types

  • Review

MeSH terms

  • Animals
  • B-Lymphocytes / immunology
  • Genes, T-Cell Receptor gamma / immunology
  • Humans
  • Janus Kinase 3
  • Killer Cells, Natural / immunology
  • Mutation
  • Protein-Tyrosine Kinases / deficiency
  • Protein-Tyrosine Kinases / immunology
  • Receptors, Interleukin-7 / genetics
  • Receptors, Interleukin-7 / immunology*
  • Severe Combined Immunodeficiency / genetics
  • Severe Combined Immunodeficiency / immunology*
  • Signal Transduction / immunology
  • T-Lymphocytes / immunology

Substances

  • Receptors, Interleukin-7
  • Protein-Tyrosine Kinases
  • JAK3 protein, human
  • Janus Kinase 3