To the Editor:
Autosomal-dominant germline mutations in PTEN are associated with phosphate and tensin homologue deleted on chromosome 10 (PTEN) hamartoma tumor syndromes (PHTS), including Cowden syndrome, characterized by hamartomas, malignant tumors, macrocephaly, and neurodevelopmental delay. Immunodeficiency has recently been reported in PHTS, but the mechanism of disease is not clear. Therefore, we performed a detailed study of the peripheral B-cell development of 9 patients with PHTS, to explore the role of phosphatidyl inositol 3-kinase (PI3K)/Akt signaling in the humoral immune response in these patients (details are described in this article’s Methods section in the Online Repository at

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Journal Journal of Allergy and Clinical Immunology
Driessen, G.J.A, IJspeert, H, Wentink, M.W.J, Yntema, H.G, van Hagen, P.M, van Strien, A, … van der Burg, M. (2016). Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency. Journal of Allergy and Clinical Immunology, 138(6), 1744–1747.e5. doi:10.1016/j.jaci.2016.07.010