Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 59
DOID:0111974
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 59

Definition
A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3.
Synonyms
  • granulocytopenia with immunoglobin abnormality
  • IMD59
Cross References
Parent Terms
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