Activating PIK3CD Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** 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).

**Synonyms:** - Activating APDS Gene Mutation - Activating IMD14 Gene Mutation - Activating P110DELTA Gene Mutation - Activating PI3K mutation/PASLI - Activating PI3K-Delta Gene Mutation - Activating PIK3CD Mutation - Activating Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta Gene Mutation - Activating p110D Gene Mutation - PIK3CD (GOF) - PIK3CD Gain of Function - PIK3CD Gain of Function Gene Mutation