Proteomics

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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

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Publications


Advances in next-generation sequencing technology have identified many genes responsible for inborn errors of immunity (IEI). However, there is still room for improvement in the efficiency of genetic diagnosis. Recently, RNA sequencing and proteomics using peripheral blood mononuclear cells (PBMCs) have gained attention, but only some studies have integrated these analyses in IEI. Moreover, previous proteomic studies for PBMCs have achieved limited coverage (approximately 3000 proteins). More co  ...[more]

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