Preferred Label : Activating PIK3CD Gene Mutation;
NCIt synonyms : Activating PIK3CD Mutation; Activating P110DELTA Gene Mutation; Activating PI3K-Delta Gene Mutation; Activating APDS Gene Mutation; Activating IMD14 Gene Mutation; Activating p110D Gene Mutation; Activating Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta
Gene Mutation; PIK3CD Gain of Function Gene Mutation;
NCIt related terms : Activating PI3K mutation/PASLI; PIK3CD Gain of Function; PIK3CD (GOF);
NCIt 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).;
NCI Metathesaurus CUI : CL545820;
Origin ID : C148028;
UMLS CUI : C4688335;
Semantic type(s)
- molecular_abnormality_involves_gene
