immunodeficiency 27B

Term ID

DOID:0111956

Synonyms

• autosomal dominant IFNGR1 deficiency
• autosomal dominant immunodeficiency 27B, mycobacteriosis
• autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
• autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
• autosomal dominant MSMD due to partial IFNgammaR1 deficiency
• autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
• IMD27B

Definition

A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. (2)

References

• MIM:615978
• ORDO:319581

Ontology

Human Disease   ( DOID:0111956 )