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Article

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

BMC genomic data - 17 Aug 2023

Ferreira Cristina Santos, Francisco Junior Ronaldo da Silva, Gerber Alexandra Lehmkuhl, Guimarães Ana Paula de Campos, de Carvalho Flavia Amendola Anisio, Dos Reis Bárbara Carvalho Santos, Pinto-Mariz Fernanda, de Souza Monica Soares, de Vasconcelos Zilton Farias Meira, Goudouris Ekaterini Simões, Vasconcelos Ana Tereza Ribeiro

Abstract excerpt

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...

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PMID: 37592284
DOI: 10.1186/s12863-023-01148-z
PMCID: PMC10433585

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