immunodeficiency 28

Term ID

DOID:0111995

Synonyms

• IFNGR2 deficiency
• IMD28
• immunodeficiency 28, mycobacteriosis
• Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
• Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
• MSMD due to complete IFNgammaR2 deficiency
• MSMD due to complete interferon gamma receptor 2 deficiency

Definition

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. (2)

References

• OMIM:614889
• ORDO:319547

Ontology

Human Disease   ( DOID:0111995 )