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| Term | X-linked severe combined immunodeficiency | ID (Ontology) | DOID:0060013 (Human Disease) |
| 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. | ||
| Also Known As | "gamma chain deficiency" ; "SCID-X1" ; "thymic epithelial hypoplasia" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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X-linked monogenic disease |__X-linked recessive disease________ combined immunodeficiency | |__severe combined immunodeficiency__| X-linked severe combined immunodeficiency |
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| Is a |
X-linked recessive disease severe combined immunodeficiency |
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External Crossreferences & Linkouts
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GARD:5618 MESH:D053632 MIM:300400 NCI:C4682 SNOMEDCT_US_2023_03_01:203592006 UMLS_CUI:C1279481 |
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