Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 22
DOID:0111937
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 22

Definition
A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2.
Synonyms
  • IMD22
  • SCID due to LCK deficiency
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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