Genetic screening in a Brazilian cohort with inborn errors of immunity

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 germlin...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10433585/
https://www.ncbi.nlm.nih.gov/pubmed/37592284
http://dx.doi.org/10.1186/s12863-023-01148-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10433585/
https://www.ncbi.nlm.nih.gov/pubmed/37592284
http://dx.doi.org/10.1186/s12863-023-01148-z

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