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Summary Literature (0)
DOID:0111945 - immunodeficiency 31A

Disease Ontology 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.

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

Xenbase Genes : stat1


MIM:
MIM:614892 - IMMUNODEFICIENCY 31A; IMD31A

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), primary immunodeficiency disease (is_a)