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Article

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

Current opinion in immunology - 1 Aug 2000

Puel A, Leonard W J

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10899029
DOI: 10.1016/s0952-7915(00)00122-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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