Publications
Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function, and EBV immunity
Abstract
Germline gain-of function (GOF) mutations in PIK3CD, encoding the catalytic p110δ 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.
| Type | Journal |
|---|---|
| Authors | Edwards ESJ, Bier J, Cole TS, Wong M, Hsu P, Berglund LJ, Boztug K, Lau A, Gostick E, Price DA, O'Sullivan M, Meyts I, Choo S, Gray P, Holland SM, Deenick EK, Uzel G, Tangye SG |
| Responsible Garvan Author | Professor Stuart Tangye |
| Publisher Name | JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY |
| Published Date | 2019-01-01 |
| Published Volume | 143 |
| Published Issue | 1 |
| Published Pages | 276-291 |
| Status | Published in-print |
| DOI | https://doi.org/10.1016/j.jaci.2018.04.030 |
| URL link to publisher's version | https://www.ncbi.nlm.nih.gov/pubmed/29800648 |