Inborn errors of type I interferon immunity in patients with symptomatic acute hepatitis E.

ABSTRACT:

Background and aims

The clinical spectrum of human infection by HEV ranges from asymptomatic to severe acute hepatitis. Furthermore, HEV can cause diverse neurological manifestations, especially Parsonage-Turner syndrome. Here, we used a large-scale human genomic approach to search for genetic determinants of severe clinical presentations of HEV infection.

Approach and results

We performed whole genome sequencing in 3 groups of study participants with PCR-proven acute HEV infection: (1) 24 patients with symptomatic acute hepatitis E; (2) 12 patients with HEV-associated Parsonage-Turner syndrome; and (3) 16 asymptomatic blood donors (controls). For variant calling and annotation, we used GATK4 best practices followed by Variant Effect Predictor (VEP) and Annovar. For variant

SUBMITTER: Saadat A 

PROVIDER: S-EPMC11095861 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature