Emmanuel Martin, Sarah Winter, Cécile Garcin, Kay Tanita, Akihiro Hoshino, Christelle Lenoir, Benjamin Fournier, Mélanie Migaud, David Boutboul, Mathieu Simonin, Alicia Fernandes, Paul Bastard, Tom Le Voyer, Anne-Laure Roupie, Yassine Ben Ahmed, Marianne Leruez-Ville, Marianne Burgard, Geetha Rao, Cindy S Ma, Cécile Masson, Claire Soudais, Capucine Picard, Jacinta Bustamante, Stuart G Tangye, Nathalie Cheikh, Mikko Seppänen, Anne Puel, Mark Daly, Jean-Laurent Casanova, Bénédicte Neven, Alain Fischer, Sylvain Latour
Epstein-Barr virus (EBV) infection can engender severe B cell lymphoproliferative diseases1,2 . The primary infection is often asymptomatic or causes infectious mononucleosis (IM), a self-limiting lymphoproliferative disorder3 . Selective vulnerability to EBV has been reported in association with inherited mutations impairing T cell immunity to EBV4 . Here we report biallelic loss-of-function variants in IL27RA that underlie an acute and severe primary EBV infection with a nevertheless favourable outcome requiring a minimal treatment...
March 20, 2024: Nature