Genetic screening in a Brazilian cohort with inborn errors of immunity

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...

Full description

Bibliographic Details
Main Authors: Cristina Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flavia Amendola Anisio de Carvalho, Bárbara Carvalho Santos dos Reis, Fernanda Pinto-Mariz, Monica Soares de Souza, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris, Ana Tereza Ribeiro Vasconcelos
Format: Article
Language:English
Published: BMC 2023-08-01
Series:BMC Genomic Data
Subjects:
Inborn errors of immunity
Whole exome sequencing
Genetic screening
Single nucleotide variants
Online Access:https://doi.org/10.1186/s12863-023-01148-z

Internet

https://doi.org/10.1186/s12863-023-01148-z

Similar Items