| Metadata | |
|---|---|
| ID | DOID:0111974 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/27913302/ |
| Xrefs | |
| Synonyms |
granulocytopenia with immunoglobin abnormality [EXACT] IMD59 [EXACT] immunodeficiency 59 and hypoglycemia [EXACT] |
| Parent Relationships |