Mutations in the gene for the IL-7 receptor result in T(-)B(+)NK(+) severe combined immunodeficiency disease.
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.
Puel
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Laboratory of Molecular Immunology, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674, USA.
Leonard
W J
WJ
D000818:Animals; D001402:B-Lymphocytes / Q000276:immunology; D019675:Genes, T-Cell Receptor gamma / Q000276:immunology; D006801:Humans; D053616:Janus Kinase 3; D007694:Killer Cells, Natural / Q000276:immunology; D009154:Mutation; D011505:Protein-Tyrosine Kinases / Q000172:deficiency / Q000276:immunology; D020395:Receptors, Interleukin-7 / Q000235:genetics / Q000276:immunology*; D016511:Severe Combined Immunodeficiency / Q000235:genetics / Q000276:immunology*; D015398:Signal Transduction / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology
D020395:Receptors, Interleukin-7; D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; D053616:Janus Kinase 3