Human genes for immunodeficiency 28
Immunodeficiency 28 [DOID:0111995]
A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR2 on chromosome 21q22.11.
Synonyms: immunodeficiency 28, DOID:0111995, IFNGR2 deficiency, IMD28, immunodeficiency 28, mycobacteriosis ...