immunodeficiency 27B

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 IFN

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.

Signs and symptoms

• Salmonella osteomyelitis
• Recurrent mycobacterium avium complex infections
• Recurrent mycobacterial infections
• Generalized lymphadenopathy
• Immunodeficiency
• Osteomyelitis

Also known as: IMD27B; autosomal dominant IFNGR1 deficiency; autosomal dominant MSMD due to partial IFNgammaR1 deficiency; autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency; autosomal dominant immunodeficiency 27B, mycobacteriosis