Revealing disease subtypes and heterogeneity in common variable immunodeficiency through transcriptomic analysis.

ABSTRACT: Common Variable Immunodeficiency (CVID) is a primary immunodeficiency characterized by reduced levels of specific immunoglobulins, resulting in frequent infections, autoimmune disorders, increased cancer risk, and diminished antibody production despite an adequate B cell count. With its clinical manifestations being highly variable, the classification of CVID, including the widely recognized Freiburg classification, is primarily based on clinical symptoms and genetic variations. Our study aims to refine the classification of CVID by analyzing transcriptomics data to identify distinct disease subtypes. We utilized the GSE51405 dataset, examining transcriptomic profiles from 30 CVID patients without complications. Employing a combination of clustering techniques-KMeans, hierarchical agglomer

SUBMITTER: Zabihi MR 

PROVIDER: S-EPMC11470955 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature