Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.

ABSTRACT: The aetiology of nodding syndrome remains unclear, and comprehensive genotyping and phenotyping data from patients remain sparse. Our objectives were to characterize the phenotype of patients with nodding syndrome, investigate potential contributors to disease aetiology, and evaluate response to immunotherapy. This cohort study investigated members of a single-family unit from Lamwo District, Uganda. The participants for this study were selected by the Ugandan Ministry of Health as representative for nodding syndrome and with a conducive family structure for genomic analyses. Of the eight family members who participated in the study at the National Institutes of Health (NIH) Clinical Center, three had nodding syndrome. The three affected patients were extensively evaluated with metagenomic

SUBMITTER: Soldatos A 

PROVIDER: S-EPMC10169415 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature