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immunodeficiency 59
Summary
- Synonym
-
- IMD59
- granulocytopenia with immunoglobin abnormality
- 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.
- Super Class
- B cell and dendritic cell deficiency autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111974
- Mondo Disease Ontology
- MeSH
- UMLS
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y4L1 | Hypoxia up-regulated protein 1 |
