" /> Activating PIK3CD Gene Mutation - CISMeF





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;

Details


You can consult :


Nous contacter.
05/06/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.