Ontology highlight
ABSTRACT:
SUBMITTER: Guerin A
PROVIDER: S-EPMC5915175 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Guérin Antoine A Kerner Gaspard G Marr Nico N Markle Janet G JG Fenollar Florence F Wong Natalie N Boughorbel Sabri S Avery Danielle T DT Ma Cindy S CS Bougarn Salim S Bouaziz Matthieu M Béziat Vivien V Della Mina Erika E Oleaga-Quintas Carmen C Lazarov Tomi T Worley Lisa L Nguyen Tina T Patin Etienne E Deswarte Caroline C Martinez-Barricarte Rubén R Boucherit Soraya S Ayral Xavier X Edouard Sophie S Boisson-Dupuis Stéphanie S Rattina Vimel V Bigio Benedetta B Vogt Guillaume G Geissmann Frédéric F Quintana-Murci Lluis L Chaussabel Damien D Tangye Stuart G SG Raoult Didier D Abel Laurent L Bustamante Jacinta J Casanova Jean-Laurent JL
eLife 20180314
Most humans are exposed to <i>Tropheryma whipplei</i> (Tw). Whipple's disease (WD) strikes only a small minority of individuals infected with Tw (<0.01%), whereas asymptomatic chronic carriage is more common (<25%). We studied a multiplex kindred, containing four WD patients and five healthy Tw chronic carriers. We hypothesized that WD displays autosomal dominant (AD) inheritance, with age-dependent incomplete penetrance. We identified a single very rare non-synonymous mutation in the four patie ...[more]