Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 32A
DOID:0111986
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 32A

Definition
A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1.
Synonyms
  • IMD32A
  • immunodeficiency 32A, mycobacteriosis, autosomal dominant
Cross References
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