Autoinflammatory syndrome with immunodeficiency: genes and variants
Autoinflammatory syndrome with immunodeficiency is linked to 1 analyzed protein (SOCS1). 2 DNA variants are known to cause it; 5 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 Autoinflammatory syndrome with immunodeficiency
SOCS1: Suppressor of cytokine signaling 1
It provides inducible negative feedback on cytokine signaling by inhibiting JAK kinases and promoting degradation of signaling components. Haploinsufficiency can cause early-onset autoimmunity and immune dysregulation, while somatic loss contributes to some lymphomas.
2 disease-causing and 5 uncertain variants in SOCS1 are linked to Autoinflammatory syndrome with immunodeficiency.
Known disease-causing variants in Autoinflammatory syndrome with immunodeficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SOCS1 P123R | 123 | SH2 | Disease-causing (★) |
| SOCS1 G187D | 187 | SOCS box | Disease-causing (★) |
Diseases related to Autoinflammatory syndrome with immunodeficiency
- Systemic lupus erythematosus, also linked to SOCS1
Frequently asked questions
Which genes are linked to Autoinflammatory syndrome with immunodeficiency?
In CATVariant, Autoinflammatory syndrome with immunodeficiency is linked to 1 analyzed protein: SOCS1 (Suppressor of cytokine signaling 1).
How many genetic variants are linked to Autoinflammatory syndrome with immunodeficiency?
10 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autoinflammatory syndrome with immunodeficiency 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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