Immunodeficiency 27A

**Semantic type:** Disease or Syndrome

**Definition:** A genetic condition caused by mutation(s) in the IFNGR1 gene, encoding interferon gamma receptor 1, resulting in impairment of interferon-gamma mediated immunity. Clinically, it is characterized by predisposition to illness caused by moderately virulent mycobacterial species.

**Synonyms:** - Autosomal Recessive IFNGR1 Deficiency - Autosomal Recessive Interferon Gamma Receptor 1 Deficiency - IFNGR 1 Deficiency - IFNGR1 Deficiency - IMD27A - Interferon Gamma Receptor 1 Deficiency - Interferon Gamma Receptor 1 Deficiency - MSMD due to Complete IFNGR1 Deficiency - MSMD due to Complete IFNgammaR1 Deficiency - Mendelian Susceptibility to Mycobacterial Diseases due to Complete IFNgammaR1 Deficiency