Search Ontology:
Human Disease

X-linked severe combined immunodeficiency

Term ID
DOID:0060013
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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