Terminology Service for NFDI4Health
JSON

Activating PIK3CD Gene Mutation

Go to external page http://purl.obolibrary.org/obo/NCIT_C148028

A mutation in PIK3CD, the gene encoding the p110delta catalytic subunit of PI3K, that results in induction of PI3K signaling. Mutations of this type are associated with immunodeficiency 14 (PASLI: activated PI3k-delta syndrome, p110-delta-activating mutation causing senescent T-cells, lymphadenopathy, and immunodeficiency). [ ]

Term info

Label

Activating PIK3CD Gene Mutation

Synonyms
  • Activating APDS Gene Mutation
  • Activating IMD14 Gene Mutation
  • Activating P110DELTA Gene Mutation
  • Activating PI3K mutation/PASLI
  • Activating PI3K-Delta Gene Mutation
  • Activating PIK3CD Gene Mutation
  • Activating PIK3CD Mutation
  • Activating Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta Gene Mutation
  • Activating p110D Gene Mutation
NCI META CUI

CL545820

Preferred Name

Activating PIK3CD Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

code

C148028