Term Name: immunodeficiency 59
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.
Ontology: Human Disease [DOID:0111974]   ( DOID:0111974 )

Relationships
is a type of: autosomal recessive disease B cell and dendritic cell deficiency