Term Name: X-linked severe combined immunodeficiency
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.
Ontology: Human Disease [DOID:0060013]   ( DOID:0060013 )

Relationships
is a type of: severe combined immunodeficiency X-linked recessive disease