inherited susceptibility to mycobacterial diseases
Findings
No curated finding names inherited susceptibility to mycobacterial diseases yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.
Definition from the Mondo Disease Ontology (MONDO:0019146), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IL23RHGNC:19100
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (14)
- autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
- autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
- autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
- autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
- immunodeficiency 27A
- Mendelian susceptibility to mycobacterial diseases due to a complete deficiency
- Mendelian susceptibility to mycobacterial diseases due to a partial deficiency
- Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Other names
6 names
Resolves to: inherited susceptibility to mycobacterial diseases
- Also called
- idiopathic infection caused by BCG or atypical mycobacteriaMendelian susceptibility to atypical mycobacteriaMendelian susceptibility to mycobacterial infectionsMSMDMycobacterium caused genetic susceptibility to infections due to particular pathogensMycobacterium genetic susceptibility to infections due to particular pathogens