ZFIN Human Disease: immunodeficiency 31A

OBO ID: DOID:0111945

Term Name:	immunodeficiency 31A		Search Ontology:
Synonyms:	autosomal dominant immunodeficiency 31A, mycobacteriosis IMD31A Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency MSMD due to partial STAT1 deficiency
Definition:	A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (2)
References:	OMIM:614892 ORDO:319595
Ontology:	Human Disease ( DOID:0111945 )

Relationships

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

OTHER immunodeficiency 31A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
STAT1	stat1a stat1b	Immunodeficiency 31A, mycobacteriosis, autosomal dominant	614892

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None