Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency: genes and variants
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency is linked to 1 analyzed protein (IRF8). 1 DNA variants are known to cause it; 164 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
IRF8: Interferon regulatory factor 8
It directs development and antimicrobial programs of monocytes, dendritic cells, and other myeloid populations and cooperates with interferon signaling. Pathogenic variants can cause immunodeficiency with abnormal monocyte or dendritic-cell development and susceptibility to mycobacterial infection.
1 disease-causing and 164 uncertain variants in IRF8 are linked to Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency.
Known disease-causing variants in Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| IRF8 T80A | 80 | IRF tryptophan pentad repeat | Disease-causing (★) |
Frequently asked questions
Which genes are linked to Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency?
In CATVariant, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency is linked to 1 analyzed protein: IRF8 (Interferon regulatory factor 8).
How many genetic variants are linked to Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency?
169 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 164 are of uncertain significance or have conflicting reports.
Which uncertain variants in Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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