ZFIN Human Disease: immunodeficiency 29

OBO ID: DOID:0111950

Term Name:	immunodeficiency 29		Search Ontology:
Synonyms:	IL12B deficiency IMD29 immunodeficiency 29, mycobacteriosis Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency MSMD due to complete IL12B deficiency MSMD due to complete interleukin 12B deficiency
Definition:	A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. (2)
References:	OMIM:614890 ORDO:319558
Ontology:	Human Disease ( DOID:0111950 )

Relationships

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

OTHER immunodeficiency 29 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
IL12B	il12ba il12bb	Immunodeficiency 29, mycobacteriosis	614890

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None