Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye

Erman et al. (2024) used Genomize-SEQ to analyze whole-exome sequencing data from 297 patients with inborn errors of immunity across 21 centers in Türkiye, establishing a molecular diagnosis in 41.1% of cases and enabling more precise treatment decisions and genetic counseling for affected families.

A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis

Aba et al. (2024) used Genomize-SEQ to identify a novel homozygous TFRC mutation in a Turkish CID patient, only the second known disease-causing variant in this gene, uncovering how defective cellular iron uptake broadly disrupts lymphocyte function and immune homeostasis.