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.
MeSH terms
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Animals
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B-Lymphocytes / immunology
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Genes, T-Cell Receptor gamma / immunology
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Humans
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Janus Kinase 3
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Killer Cells, Natural / immunology
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Mutation
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Protein-Tyrosine Kinases / deficiency
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Protein-Tyrosine Kinases / immunology
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Receptors, Interleukin-7 / genetics
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Receptors, Interleukin-7 / immunology*
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Severe Combined Immunodeficiency / genetics
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Severe Combined Immunodeficiency / immunology*
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Signal Transduction / immunology
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T-Lymphocytes / immunology
Substances
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Receptors, Interleukin-7
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Protein-Tyrosine Kinases
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JAK3 protein, human
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Janus Kinase 3