OBO ID: DOID:0060017 |
Term Name: | CD3epsilon deficiency | Search Ontology: | |
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Synonyms: |
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Definition: | A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. https://www.ncbi.nlm.nih.gov/pubmed/16264327 | ||
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Ontology: | Human Disease ( DOID:0060017 ) |
OTHER CD3epsilon deficiency PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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