Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function, and EBV immunity
Germline gain-of function (GOF) mutations in PIK3CD, encoding the catalytic p110Î´ subunit of phosphatidylinositol-3 kinase, result in hyperactivation of the PI3K-AKT-mTOR pathway and underlie a novel inborn error of immunity. Affected individuals exhibit perturbed humoral and cellular immunity, manifesting as recurrent infections, autoimmunity, hepatosplenomegaly, uncontrolled EBV and/or CMV infection, and an increased incidence of B-cell lymphoproliferation and/or lymphoma. Mechanisms underlying disease pathogenesis remain unknown.
|Authors||ESJ Edwards, J Bier, T Cole, M Wong, P Hsu, LJ Berglund, K Boztug, E Gostick, DA Price, M OaSullivan, I Meyts, S Choo, P Gray, SM Holland, EK Deenick, G Uzel, SG Tangye.|
|Responsible Garvan Author|
|Publisher Name||JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY|
|URL link to publisher's version||https://www.ncbi.nlm.nih.gov/pubmed/29800648|