Autoinflammation, immune dysregulation, and eosinophilia: genes and variants
Autoinflammation, immune dysregulation, and eosinophilia is linked to 1 analyzed protein (JAK1). 1 DNA variants are known to cause it; 14 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 Autoinflammation, immune dysregulation, and eosinophilia
JAK1: Tyrosine-protein kinase JAK1
It couples many cytokine receptors to STAT transcription factors and is essential for interferon, interleukin, and growth-factor signaling. Loss-of-function can cause immunodeficiency, whereas activating alterations contribute to inflammatory disease and some malignancies.
1 disease-causing and 14 uncertain variants in JAK1 are linked to Autoinflammation, immune dysregulation, and eosinophilia.
Known disease-causing variants in Autoinflammation, immune dysregulation, and eosinophilia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| JAK1 S703I | 703 | Protein kinase 1 | Disease-causing |
Diseases related to Autoinflammation, immune dysregulation, and eosinophilia
- Hypothyroidism, also linked to JAK1
- Primary myelofibrosis, also linked to JAK1
- Acute megakaryoblastic leukemia in down syndrome, also linked to JAK1
- Acquired polycythemia vera, also linked to JAK1
Frequently asked questions
Which genes are linked to Autoinflammation, immune dysregulation, and eosinophilia?
In CATVariant, Autoinflammation, immune dysregulation, and eosinophilia is linked to 1 analyzed protein: JAK1 (Tyrosine-protein kinase JAK1).
How many genetic variants are linked to Autoinflammation, immune dysregulation, and eosinophilia?
18 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 14 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autoinflammation, immune dysregulation, and eosinophilia 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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