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

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.

• Authors: A Puel, W J Leonard
• Journal: Current opinion in immunology (Curr Opin Immunol) Vol. 12 Issue 4 Pg. 468-73 (Aug 2000) ISSN: 0952-7915 [Print] England
• PMID: 10899029 (Publication Type: Journal Article, Review)

Chemical References

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

Topics

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