ZFIN Human Disease: immunodeficiency 69

OBO ID: DOID:0112006

Term Name:	immunodeficiency 69		Search Ontology:
Synonyms:	IMD69
Definition:	A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15. https://pubmed.ncbi.nlm.nih.gov/32163377/
References:	OMIM:618963
Ontology:	Human Disease ( DOID:0112006 )

Relationships

is a type of:	autosomal recessive disease T cell and NK cell immunodeficiency autosomal recessive disease T cell and NK cell immunodeficiency Show first 5 Terms

OTHER immunodeficiency 69 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
IFNG	ifng1r ifng1	?Immunodeficiency 69, mycobacteriosis	618963

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None