Immunodeficiency 98 with autoinflammation, X-linked: genes and variants
Immunodeficiency 98 with autoinflammation, X-linked is linked to 1 analyzed protein (TLR8). 2 DNA variants are known to cause it; 3 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 Immunodeficiency 98 with autoinflammation, X-linked
TLR8: Toll-like receptor 8
It senses single-stranded RNA degradation products in endosomes of monocytes and other immune cells and promotes inflammatory cytokine production. Gain-of-function variants can cause immunodeficiency with neutropenia and dysregulated B-cell development.
2 disease-causing and 3 uncertain variants in TLR8 are linked to Immunodeficiency 98 with autoinflammation, X-linked.
Known disease-causing variants in Immunodeficiency 98 with autoinflammation, X-linked
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TLR8 F494L | 494 | LRR 13 | Disease-causing |
| TLR8 G572D | 572 | LRR 16 | Disease-causing |
Frequently asked questions
Which genes are linked to Immunodeficiency 98 with autoinflammation, X-linked?
In CATVariant, Immunodeficiency 98 with autoinflammation, X-linked is linked to 1 analyzed protein: TLR8 (Toll-like receptor 8).
How many genetic variants are linked to Immunodeficiency 98 with autoinflammation, X-linked?
7 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Immunodeficiency 98 with autoinflammation, X-linked 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center