OBO ID: DOID:0060013
Term Name: X-linked severe combined immunodeficiency Search Ontology:
Synonyms:
  • gamma chain deficiency
  • SCID-X1
  • thymic epithelial hypoplasia
  • XSCID
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)
References:
Ontology: Human Disease   ( DOID:0060013 )
Relationships
is a type of:
OTHER X-linked severe combined immunodeficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IL2RG Severe combined immunodeficiency, X-linked 300400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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