IRF8 encodes interferon regulatory factor 8 (426 aa). Transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)). Highest expression in Cells EBV-transformed lymphocytes (136.0 TPM) and Spleen (107.3 TPM).

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency is associated with mutations in the IRF8 gene on chromosome 16.

The IRF8 protein participates in TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling pathway.

IRF8 is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 0.0.

Genetic testing for IRF8 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 2 common features.

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

No clinical trials have been registered for Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency.

2 publications have been identified in PubMed for Mendelian susceptibility to mycobacterial diseases due to partial IRF8 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]