Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.

@article{Wentink2017GeneticDI,
  title={Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.},
  author={Marjolein W. J. Wentink and Virgil Ash Dalm and Arjan C Lankester and Pauline A van Schouwenburg and Liesbeth Sch{\"o}lvinck and Tomas Kalina and Radana Zachov{\'a} and Anna {\vS}ediv{\'a} and Annechien Jansine Almtje Lambeck and Ingrid Pico-Knijnenburg and Jacques J M van Dongen and Malgorzata Pac and Ewa Anna Bernatowska and Martin van Hagen and Gertjan J. A. Driessen and Mirjam van der Burg},
  journal={Clinical immunology},
  year={2017},
  volume={176},
  pages={
          77-86
        }
}
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 mutations in PIK3CD or PIK3R1. Patients had low total B-cell numbers with increased… CONTINUE READING
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