immunodeficiency 31A

Term ID

DOID:0111945

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 )