Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections: genes and variants
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections is linked to 2 analyzed proteins (STAT6 and STAT3). 6 DNA variants are known to cause it; 0 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 Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
STAT6: Signal transducer and activator of transcription 6
It mediates IL-4 and IL-13 signaling that drives type 2 immunity, IgE responses, and alternative macrophage activation. Gain-of-function germline variants can cause severe early-onset allergic disease and immune dysregulation, while pathway inhibition is therapeutically useful in atopic disorders.
6 disease-causing and 0 uncertain variants in STAT6 are linked to Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections.
STAT3: Signal transducer and activator of transcription 3
It translates cytokine and growth-factor signals into transcriptional programs governing immune regulation, survival, proliferation, and tissue repair. Dominant-negative variants cause hyper-IgE syndrome, while activating germline variants cause early autoimmunity and lymphoproliferation and somatic activation contributes to cancer.
0 disease-causing and 0 uncertain variants in STAT3 are linked to Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections.
Known disease-causing variants in Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| STAT6 D419H | 419 | Disease-causing (★) | |
| STAT6 D419Y | 419 | Disease-causing | |
| STAT6 D419G | 419 | Disease-causing | |
| STAT6 E372K | 372 | Disease-causing | |
| STAT6 E382Q | 382 | Disease-causing | |
| STAT6 D519H | 519 | SH2 | Disease-causing |
Diseases related to Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant, also linked to STAT3
- STAT3 gain of function, also linked to STAT3
- STAT3-related early-onset multisystem autoimmune disease, also linked to STAT3
- Inherited Immunodeficiency Diseases, also linked to STAT3
Frequently asked questions
Which genes are linked to Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections?
In CATVariant, Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections is linked to 2 analyzed proteins: STAT6 (Signal transducer and activator of transcription 6) and STAT3 (Signal transducer and activator of transcription 3).
How many genetic variants are linked to Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections?
12 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections 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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