Conditions / Genetic
immunodeficiency 59
info · Genetic
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 homozyg
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.
Signs and symptoms
- Malabsorption
- Short stature
- Recurrent lower respiratory tract infections
- Narrow nose
- Hepatomegaly
- HSV encephalitis
- Acne inversa
- Sepsis
- Hypoglycemia
- High palate
Also known as: IMD59; granulocytopenia with immunoglobin abnormality; immunodeficiency 59 and hypoglycemia