A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.

ABSTRACT:

Purpose

Newborn screening using dried blood spot (DBS) samples for the targeted measurement of metabolites and nucleic acids has made a substantial contribution to public healthcare by facilitating the detection of neonates with genetic disorders. Here, we investigated the applicability of non-targeted quantitative proteomics analysis to newborn screening for inborn errors of immunity (IEIs).

Methods

DBS samples from 40 healthy newborns and eight healthy adults were subjected to non-targeted proteomics analysis using liquid chromatography-mass spectrometry after removal of the hydrophilic fraction. Subsequently, DBS samples from 43 IEI patients were analyzed to determine whether patients can be identified by reduced expression of disease-associated proteins.

Results

D

SUBMITTER: Shibata H 

PROVIDER: S-EPMC11511704 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature