Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency

Publication date: Available online 13 August 2016
Source:Journal of Allergy and Clinical Immunology
Author(s): Gertjan J. Driessen, Hanna IJspeert, Marjolein Wentink, Helger G. Yntema, P. Martin van Hagen, Arthur van Strien, Giorgia Bucciol, Ozgur Cogulu, Margreet Trip, Willy Nillesen, Els A. Peeters, Ingrid Pico-Knijnenburg, Barbara H. Barendregt, Marta Rizzi, Jacques J. van Dongen, Necil Kutukculer, Mirjam van der Burg
PTEN deficiency in humans is associated with PTEN Hamartoma Tumor Syndromes (PHTS). It causes increased activation of the PI3K/Akt pathway and we here show that the humoral immune response is deregulated resulting in CSR and SHM deficiency. This is clinically apparent in part of the PHTS patients as antibody deficiency. In conclusion, PI3K/Akt signaling is important for the human B-cell response to antigens and deregulated signaling is implicated in the pathophysiology of antibody deficiency.



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