immunodeficiency 27A

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

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.

Signs and symptoms

• Thrombocytosis
• Enlarged mesenteric lymph node
• Increased circulating IgM concentration
• Hypoalbuminemia
• Increased inflammatory response
• Anemia
• Lymphadenopathy
• Histiocytosis
• Fever
• Weight loss

Also known as: IMD27A; autosomal recessive IFNGR1 deficiency; autosomal recessive MSMD due to partial IFNgammaR1 deficiency; autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency; autosomal recessive immunodeficiency 27A, mycobacteriosis