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Summary Literature (0)
DOID:0111995 - immunodeficiency 28

Disease Ontology 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.

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

Xenbase Genes : ifngr2, ifngr2.2


MIM:
MIM:614889 - IMMUNODEFICIENCY 28; IMD28

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), primary immunodeficiency disease (is_a)