Term Name: | immunodeficiency 59 |
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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 ) |