immunodeficiency 31B

Summary

DOID:0111944 - immunodeficiency 31B

Disease Ontology 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.

Synonyms: IMD31B, autosomal recessive STAT1 deficiency, autosomal recessive immunodeficiency 31B, mycobacterial and viral infections, predisposition to severe viral infection due to STAT1 deficiency, susceptibility to viral and mycobacterial infections due to STAT1 deficiency,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: stat1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), primary immunodeficiency disease (is_a)