Humoral immune response in adult Brazilian patients with mucolipidosis III gamma

Visualizar/abrir
Data
2019
Autor
Tipo
URI
http://hdl.handle.net/10183/232164
Assunto
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  ... 
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.  ... 
Contido em
Genetics and molecular biology. Vol. 42, no. 3 (2019), p. 571-573.
Origem
Nacional
Coleções
 
   

Este item está licenciado na Creative Commons License