ZFIN Human Disease: immunodeficiency 28

OBO ID: DOID:0111995

Term Name:	immunodeficiency 28		Search Ontology:
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 )

Relationships

is a type of:	autosomal recessive disease primary immunodeficiency disease autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

OTHER immunodeficiency 28 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
IFNGR2		Immunodeficiency 28, mycobacteriosis

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None