Ontology highlight
ABSTRACT:
SUBMITTER: Guerin A
PROVIDER: S-EPMC5915175 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
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]