IL12B encodes interleukin 12B (328 aa). Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC Highest expression in Cells EBV-transformed lymphocytes (1.0 TPM) and Pituitary (0.8 TPM).

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency is associated with mutations in the IL12B gene on chromosome 5.

The IL12B protein participates in IL12B translocates from the cytosol to the extracellular region, IL12B:IL12B translocates from ER lumen to the extracellular region, and IL12B:IL23A translocates from ER lumen to extracellular space pathways.

IL12B is classified as a druggable target (Druggable Genome and Growth Factor categories) with score 3.7.

Genetic testing for IL12B is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency.

2 publications have been identified in PubMed for Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency. Research spans Review / Meta-Analysis (100%).

Recent Publications

• Raghuraman K (2025). [PMID: 40656276](https://pubmed.ncbi.nlm.nih.gov/40656276/). *Cureus*. [Review / Meta-Analysis]

• Gemici Karaaslan B (2024). [PMID: 39183693](https://pubmed.ncbi.nlm.nih.gov/39183693/). *Balkan Med J*. [Review / Meta-Analysis]