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Metadata
ID DOID:0111995
Name immunodeficiency 28
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 IFNGR2 on chromosome 21q22.11.
https://pubmed.ncbi.nlm.nih.gov/11335769/, https://pubmed.ncbi.nlm.nih.gov/19084105/
Xrefs

OMIM:614889

ORDO:319547

Synonyms

IFNGR2 deficiency [EXACT]

IMD28 [EXACT]

immunodeficiency 28, mycobacteriosis [EXACT]

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency [EXACT]

Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency [EXACT]

MSMD due to complete IFNgammaR2 deficiency [EXACT]

MSMD due to complete interferon gamma receptor 2 deficiency [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease

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