immunodeficiency 59

Term ID

DOID:0111974

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. https://pubmed.ncbi.nlm.nih.gov/27913302/

References

• MESH:C565535
• MIM:233600
• UMLS_CUI:C1856263

Ontology

Human Disease   ( DOID:0111974 )