Data/hora: 16/06/2024 06:24:38

Provedor de dados: 	74	
País: 	Brazil	
Título: 	Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma	
Autores: 	Sperb-Ludwig,Fernanda; Alegra,Taciane; Velho,Renata Voltolini; Ludwig,Nataniel; Siebert,Marina; Jobim,Mariana; Vairo,Filippo; Schwartz,Ida V. D.	
Data: 	2019-09-01	
Ano: 	2019	
Palavras-chave: 	Mucolipidosis III gamma; Inborn error of metabolism; Humoral immune response; B-cell functions.	
Resumo: 	Abstract Mucolipidosis II and III (ML II and III) alpha/beta and ML III gamma are lysosomal diseases caused by GlcNAc-1-phosphotransferase deficiency. Previous data indicate that MLII patients have functionally impaired immune system that contributes to predisposition to infections.We evaluated the immunological phenotype of three Brazilian patients with ML III gamma. Our data suggest that the residual activity of GlcNAc-1-phosphotransferase in patients with ML III gamma is enough to allow the targeting of the lysosomal enzymes required for B-cell functions maintenance.	
Tipo: 	Info:eu-repo/semantics/other	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400571	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/1678-4685-gmb-2018-0246	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.42 n.3 2019	
Fonte: 	info:eu-repo/semantics/openAccess