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General Information
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| Term |
immunodeficiency 59 |
ID (Ontology) |
DOID:0111974 (Human Disease) |
| 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. |
| Also Known As |
"granulocytopenia with immunoglobin abnormality" ; "IMD59" ; "immunodeficiency 59 and hypoglycemia" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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immunodeficiency 59 | 1 | for disease ribbon | immunodeficiency 59 | 1 | model of | immunodeficiency 59 | 1 |
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Relationships