Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation: genes and variants
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is linked to 1 analyzed protein (PLCG2). 3 DNA variants are known to cause it; 93 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-PLCG2-associated antibody deficiency-immune dysregulation
PLCG2: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2
It generates IP3 and diacylglycerol downstream of immune receptors, triggering intracellular calcium release and protein-kinase-C signaling in B cells and myeloid cells. Gain-of-function variants cause autoinflammatory and antibody-deficiency syndromes, while somatic mutations can mediate resistance to BTK inhibitors.
3 disease-causing and 93 uncertain variants in PLCG2 are linked to Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation.
Known disease-causing variants in Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PLCG2 S707Y | 707 | SH2 2 | Disease-causing |
| PLCG2 S707P | 707 | SH2 2 | Disease-causing |
| PLCG2 L845S | 845 | Disease-causing |
Same protein, different disease
- Familial cold autoinflammatory syndrome 3 is also caused by PLCG2 variants; they fall mostly in different places as the Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation variants (3 disease-causing).
Diseases related to Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
- Alzheimer disease, also linked to PLCG2
- Familial cold autoinflammatory syndrome 3, also linked to PLCG2
Frequently asked questions
Which genes are linked to Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation?
In CATVariant, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is linked to 1 analyzed protein: PLCG2 (1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2).
How many genetic variants are linked to Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation?
103 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 93 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 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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