Conditions / Immune
immunodeficiency 69
info · Immune
A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heteroz
A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15.
Signs and symptoms
- Anemia
- Fever
- Hepatosplenomegaly
- Increased total leukocyte count
- Diarrhea
- Thrombocytosis
- BCGitis
- BCGosis
- Increased circulating ferritin concentration
- Failure to thrive
Also known as: IMD69