" /> Immunodeficiency 27A - CISMeF





Preferred Label : Immunodeficiency 27A;

NCIt synonyms : IFNGR1 Deficiency; IMD27A; MSMD due to Complete IFNGR1 Deficiency; Interferon Gamma Receptor 1 Deficiency; Mendelian Susceptibility to Mycobacterial Diseases due to Complete IFNgammaR1 Deficiency; MSMD due to Complete IFNgammaR1 Deficiency; Autosomal Recessive Interferon Gamma Receptor 1 Deficiency; Autosomal Recessive IFNGR1 Deficiency;

NCIt related terms : IFNGR 1 Deficiency;

NCIt 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.;

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28/07/2025


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