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Curr Opin Immunol. 2000 Aug;12(4):468-73.

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

Author information

1
Laboratory of Molecular Immunology, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674, USA.

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.

PMID:
10899029
DOI:
10.1016/s0952-7915(00)00122-9
[Indexed for MEDLINE]

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