Genetic screening in a Brazilian cohort with inborn errors of immunity.

ABSTRACT:

Background

Inherited genetic defects in immune system-related genes can result in Inborn Errors of Immunity (IEI), also known as Primary Immunodeficiencies (PID). Diagnosis of IEI disorders is challenging due to overlapping clinical manifestations. Accurate identification of disease-causing germline variants is crucial for appropriate treatment, prognosis, and genetic counseling. However, genetic sequencing is challenging in low-income countries like Brazil. This study aimed to perform genetic screening on patients treated within Brazil's public Unified Health System to identify candidate genetic variants associated with the patient's phenotype.

Methods

Thirteen singleton unrelated patients from three hospitals in Rio de Janeiro were enrolled in this study. Genomic DNA was e

SUBMITTER: Ferreira CS 

PROVIDER: S-EPMC10433585 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature