DISEASES

Disease-gene associations mined from literature

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,  MSMD due to complete IFNgammaR2 deficiency ...