Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Findings
No curated finding names Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene.
Definition from the Mondo Disease Ontology (MONDO:0013954), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BCGitisHPOHP:0020086
- 1 of 1 reported patient · Infantile onset
- ImmunodeficiencyHPOHP:0002721
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.
- IL12BHGNC:5970
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- Also called
- autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12BIL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiencyimmunodeficiency type 29Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiencyMSMD due to complete IL12B deficiencyMSMD due to complete interleukin 12B deficiency