Search Ontology:
Human Disease

immunodeficiency 59

Term ID
DOID:0111974
Synonyms
  • granulocytopenia with immunoglobin abnormality
  • IMD59
  • immunodeficiency 59 and hypoglycemia
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. https://pubmed.ncbi.nlm.nih.gov/27913302/
References
Ontology
Human Disease   ( DOID:0111974 )
Relationships
is a type of
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Genes Involved
Zebrafish Models