Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection: genes and variants
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is linked to 1 analyzed protein (STAT2). 1 DNA variants are known to cause it; 185 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 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
STAT2: Signal transducer and activator of transcription 2
It partners with STAT1 and IRF9 to execute type I interferon antiviral transcriptional programs. Biallelic loss-of-function variants can cause severe viral susceptibility, while gain-of-function variants can produce chronic interferon-driven inflammatory disease.
1 disease-causing and 185 uncertain variants in STAT2 are linked to Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection.
Known disease-causing variants in Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| STAT2 G526R | 526 | Interaction with heartland virus NSs | Disease-causing (★) |
Diseases related to Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Pseudo-TORCH syndrome 3, also linked to STAT2
Frequently asked questions
Which genes are linked to Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection?
In CATVariant, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is linked to 1 analyzed protein: STAT2 (Signal transducer and activator of transcription 2).
How many genetic variants are linked to Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection?
208 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 185 are of uncertain significance or have conflicting reports.
Which uncertain variants in Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 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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