ZFIN Human Disease: immunodeficiency 31B

OBO ID: DOID:0111944

Term Name:	immunodeficiency 31B		Search Ontology:
Synonyms:	autosomal recessive immunodeficiency 31B, mycobacterial and viral infections autosomal recessive STAT1 deficiency IMD31B predisposition to severe viral infection due to STAT1 deficiency susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Definition:	A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (2)
References:	OMIM:613796 ORDO:391311
Ontology:	Human Disease ( DOID:0111944 )

Relationships

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

OTHER immunodeficiency 31B PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
STAT1	stat1a stat1b	Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive	613796

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None