Demonstration of a complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis

ABSTRACT: Genetic diagnosis plays a central role in the clinical management of patients with inborn errors of immunity (IEI). We proposed a novel method for diagnosing IEI using PBMC proteomics integrated with targeted RNA sequencing, providing notable insights into the pathogenesis of IEI. Data-independent acquisition mass spectrometry was performed on PBMC from 70 IEI patients without genetic diagnosis and six healthy controls.

ORGANISM(S): Homo Sapiens (human)

SUBMITTER: Fumiaki Sakura 

PROVIDER: PXD038352 | JPOST Repository | Sat Nov 25 00:00:00 GMT 2023

REPOSITORIES: jPOST