OBO ID: DOID:0060013 |
Term Name: | X-linked severe combined immunodeficiency | Search Ontology: | |
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Definition: | A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. (2) | ||
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Ontology: | Human Disease ( DOID:0060013 ) |
OTHER X-linked severe combined immunodeficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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