Humoral immune response in adult Brazilian patients with mucolipidosis III gamma

Sperb, Fernanda; Siebert, Marina; Alegra, Taciane; Velho, Renata Voltolini; Ludwig, Nataniel Floriano; Siebert, Marina; Wilson, Mariana de Sampaio Leite Jobim; Vairo, Filippo Pinto e; Schwartz, Ida Vanessa Doederlein

dc.contributor.author	Sperb, Fernanda	pt_BR
dc.contributor.author	Siebert, Marina	pt_BR
dc.contributor.author	Alegra, Taciane	pt_BR
dc.contributor.author	Velho, Renata Voltolini	pt_BR
dc.contributor.author	Ludwig, Nataniel Floriano	pt_BR
dc.contributor.author	Siebert, Marina	pt_BR
dc.contributor.author	Wilson, Mariana de Sampaio Leite Jobim	pt_BR
dc.contributor.author	Vairo, Filippo Pinto e	pt_BR
dc.contributor.author	Schwartz, Ida Vanessa Doederlein	pt_BR
dc.date.accessioned	2021-11-25T04:36:50Z	pt_BR
dc.date.issued	2019	pt_BR
dc.identifier.issn	1415-4757	pt_BR
dc.identifier.uri	http://hdl.handle.net/10183/232164	pt_BR
dc.description.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.	en
dc.format.mimetype	application/pdf	pt_BR
dc.language.iso	eng	pt_BR
dc.relation.ispartof	Genetics and molecular biology. Vol. 42, no. 3 (2019), p. 571-573.	pt_BR
dc.rights	Open Access	en
dc.subject	Mucolipidoses	pt_BR
dc.subject	Mucolipidosis III gamma	en
dc.subject	Inborn error of metabolism	en
dc.subject	Adulto	pt_BR
dc.subject	Erros inatos do metabolismo	pt_BR
dc.subject	Humoral immune response	en
dc.subject	B-cell functions	en
dc.subject	Imunidade humoral	pt_BR
dc.subject	Brasil	pt_BR
dc.title	Humoral immune response in adult Brazilian patients with mucolipidosis III gamma	pt_BR
dc.type	Artigo de periódico	pt_BR
dc.identifier.nrb	001133100	pt_BR
dc.type.origin	Nacional	pt_BR

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