Article
Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.
Clinical immunology (Orlando, Fla.) - 1 Mar 2017
Wentink Marjolein, Dalm Virgil, Lankester Arjan C, van Schouwenburg Pauline A, Schölvinck Liesbeth, Kalina Tomas, Zachova Radana, Sediva Anna, Lambeck Annechien, Pico-Knijnenburg Ingrid, van Dongen Jacques J M, Pac Malgorzata, Bernatowska Ewa, van Hagen Martin, Driessen Gertjan, van der Burg Mirjam
Abstract excerpt
BACKGROUND: Mutations in PIK3CD and PIK3R1 cause activated PI3K-δ syndrome (APDS) by dysregulation of the PI3K-AKT pathway. METHODS: We studied precursor and peripheral B-cell differentiation and apoptosis via flowcytometry. Furthermore, we performed AKT-phosphorylation assays and somatic hypermutations (SHM) and class switch recombination (CSR) analysis. RESULTS: We identified 13 patients of whom 3 had new...
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