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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Disease definition
Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by 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 (EM).
ORPHA:319574
Classification level: Disorder- Synonym(s):
- Autosomal recessive MSMD due to partial IFNgammaR2 deficiency
- Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: -
- ICD-10: D84.8
- ICD-11: 4A00.2
- OMIM: 614889
- UMLS: C4511098
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
The prevalence is unknown. Only one patient has been reported with this variant to date.
Clinical description
The patient presented with a mild infection caused by BCG and M. abscessus.
Etiology
Autosomal recessive MSMD due to partial IFNgammaR2 deficiency is 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.
Genetic counseling
Transmission is autosomal recessive and genetic counseling is possible.
A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013)
Additional information