immunodeficiency 27A

Term ID

DOID:0111955

Synonyms

• autosomal recessive IFNGR1 deficiency
• autosomal recessive immunodeficiency 27A, mycobacteriosis
• autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
• autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
• autosomal recessive MSMD due to partial IFNgammaR1 deficiency
• autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
• IMD27A

Definition

A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. (3)

References

• MESH:C535530
• MIM:209950
• ORDO:319569

Ontology

Human Disease   ( DOID:0111955 )