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

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.