ZFIN Human Disease: immunodeficiency 27B

OBO ID: DOID:0111956

Term Name:	immunodeficiency 27B		Search Ontology:
Synonyms:	autosomal dominant IFNGR1 deficiency autosomal dominant immunodeficiency 27B, mycobacteriosis autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency autosomal dominant MSMD due to partial IFNgammaR1 deficiency autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency IMD27B
Definition:	A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. (2)
References:	OMIM:615978 ORDO:319581
Ontology:	Human Disease ( DOID:0111956 )

Relationships

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

OTHER immunodeficiency 27B PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
IFNGR1	ifngr1l	Immunodeficiency 27B, mycobacteriosis, AD	615978

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None