Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 19
DOID:0111972
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 19

Definition
A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3.
Synonyms
  • CD3-delta deficiency
  • IMD19
Cross References
Parent Terms
Child Terms
None
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