Article
Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.
Clinical and experimental immunology - 1 Feb 2016
Elgizouli M, Lowe D M, Speckmann C, Schubert D, Hülsdünker J, Eskandarian Z, Dudek A, Schmitt-Graeff A, Wanders J, Jørgensen S F, Fevang B, Salzer U, Nieters A, Burns S, Grimbacher B
Abstract excerpt
The gene PIK3CD codes for the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), and is expressed solely in leucocytes. Activating mutations of PIK3CD have been described to cause an autosomal dominant immunodeficiency that shares clinical features with common variable immunodeficiency (CVID). We screened a cohort of 669 molecularly undefined primary immunodeficiency patients for five reported mutations...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.