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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
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 |
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