immunodeficiency 28

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 the IF

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 the IFNGR2 gene on chromosome 21q22.11.

Signs and symptoms

• Recurrent mycobacterial infections
• Immunodeficiency

Also known as: IFNGR2 deficiency; IMD28; MSMD due to complete IFNgammaR2 deficiency; MSMD due to complete interferon gamma receptor 2 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency