Ontology highlight
ABSTRACT:
SUBMITTER: Rodriguez R
PROVIDER: S-EPMC6888974 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Rodriguez Rémy R Fournier Benjamin B Cordeiro Debora Jorge DJ Winter Sarah S Izawa Kazushi K Martin Emmanuel E Boutboul David D Lenoir Christelle C Fraitag Sylvie S Kracker Sven S Watts Tania H TH Picard Capucine C Bruneau Julie J Callebaut Isabelle I Fischer Alain A Neven Bénédicte B Latour Sylvain S
The Journal of experimental medicine 20190919 12
Infection of T cells by Epstein-Barr virus (EBV) causes chronic active EBV infection (CAEBV) characterized by T cell lymphoproliferative disorders (T-LPD) of unclear etiology. Here, we identified two homozygous biallelic loss-of-function mutations in <i>PIK3CD</i> and <i>TNFRSF9</i> in a patient who developed a fatal CAEBV. The mutation in <i>TNFRSF9</i> gene coding CD137/4-1BB, a costimulatory molecule expressed by antigen-specific activated T cells, resulted in a complete loss of CD137 express ...[more]