Primary oxidative phosphorylation defects lead to perturbations in the human B cell repertoire.

ABSTRACT:

Introduction

The majority of studies on oxidative phosphorylation in immune cells have been performed in mouse models, necessitating human translation. To understand the impact of oxidative phosphorylation (OXPHOS) deficiency on human immunity, we studied children with primary mitochondrial disease (MtD).

Methods

scRNAseq analysis of peripheral blood mononuclear cells was performed on matched children with MtD (N = 4) and controls (N = 4). To define B cell function we performed phage display immunoprecipitation sequencing on a cohort of children with MtD (N = 19) and controls (N = 16).

Results

Via scRNAseq, we found marked reductions in select populations involved in the humoral immune response, especially antigen presenting cells, B cell and plasma populations, with

SUBMITTER: Gordon-Lipkin EM 

PROVIDER: S-EPMC10361569 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature