Version: 8.0.0
Date: Tue Jan 28 2025
X-linked severe combined immunodeficiency
DOID:0060013
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

X-linked severe combined immunodeficiency

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.
Synonyms
  • gamma chain deficiency
  • SCID-X1
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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    Associated Alleles

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      Associated Models

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