Host Genetics, Innate Immune Responses, and Cellular Death Pathways in Poliomyelitis Patients.

ABSTRACT:

Purpose

Poliovirus (PV) is one of the most studied viruses. Despite efforts to understand PV infection within the host, fundamental questions remain unanswered. These include the mechanisms determining the progression to viremia, the pathogenesis of neuronal infection and paralysis in only a minority of patients. Because of the rare disease phenotype of paralytic poliomyelitis (PPM), we hypothesize that a genetic etiology may contribute to the disease course and outcome.

Methods

We used whole-exome sequencing (WES) to investigate the genetic profile of 18 patients with PPM. Functional analyses were performed on peripheral blood mononuclear cells (PBMCs) and monocyte-derived macrophages (MdMs).

Results

We identified rare variants in host genes involved in interferon si

SUBMITTER: Andersen NB 

PROVIDER: S-EPMC6629967 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature