Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 14
DOID:0111936
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 14

Definition
A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22.
Synonyms
  • activated PI3K-delta syndrome
  • APDS
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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