Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Findings
No curated finding names Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 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 IL12RB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013955), read 2026-09-29. CC BY 4.0.
Features
15 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.
- Abnormal circulating interleukin concentrationHPOHP:0011117
- Very frequent (80% to 99% of cases)
- BCGosisHPOHP:0020087
- Very frequent (80% to 99% of cases)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
- Recurrent mycobacterial infectionsHPOHP:0011274
- Very frequent (80% to 99% of cases)
- Disseminated non-tuberculous mycobacterial infectionHPOHP:0032283
- Frequent (30% to 79% of cases)
- LymphadenitisHPOHP:0002840
- Frequent (30% to 79% of cases)
Show the remaining 3
- Severe Toxoplasma infectionHPOHP:0020105
- Very rare (1% to 4% of cases)
- Unusual Histoplasma capsulatum infectionHPOHP:0032256
- Very rare (1% to 4% of cases)
- Vasculitis in the skinHPOHP:0200029
- Very rare (1% to 4% of cases)
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.
- IL12RB1HGNC:5971
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- 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 IL12RB1 deficiency
- Also called
- autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiencyimmunodeficiency type 30Mendelian susceptibility to interleukin 12 receptor beta 1 deficiencyMSMD due to complete IL12RB1 deficiencyMSMD due to complete interleukin 12 receptor beta 1 deficiency