Phosphatidylinositol-4,5-bisphosphate phospholipase C gamma 2 deficiency

Synonym(s)
- Familial cold autoinflammatory syndrome type 3
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PLCG2 / phospholipase C gamma 2
  16q24.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phospholipase C-gamma-2
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism
Child entries
- Autoinflammation and PLCG2-related antibody deficiency and immune dysregulation