[PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma
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 a functionally impaired immune system that contributes to the high predisposition to infections. We ev...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Sociedade Brasileira de Genética
|
| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005022104&lng=en&tlng=en |
| Summary: | 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 a functionally impaired immune system that contributes to the high predisposition to infections. We evaluated the immunological phenotype of three Brazilian patients with ML III gamma. Our data suggest that the residual activity of the enzyme in patients with ML III gamma is enough to allow the targeting lysosomal enzymes required for B-cell functions maintenance. Herein, we evaluate the immunological phenotype of Brazilian patients with ML III gamma. |
|---|---|
| ISSN: | 1678-4685 |