Terminology Service for NFDI4Health
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)
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http://snomed.info/id/725432008
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Only one patient has been reported with this variant to date. Caused by a homozygous mutation (R114C) in IFNGR2 on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain. This mutation leads to a residual cellular response to IFN-gamma in terms of IL12p40 production. Transmission is autosomal recessive.
Term info
Label
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)
Synonyms
- Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial IFNgammaR2 deficiency
- Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency
Term relations
Subclass of:
- Mendelian susceptibility to mycobacterial disease (disorder)
- Autosomal recessive hereditary disorder (disorder)
- Autosomal recessive hereditary disorder (disorder) and Mendelian susceptibility to mycobacterial disease (disorder) and Role group (attribute) some (Pathological process (attribute) some Abnormal immune process (qualifier value))