Humoral immune response in adult brazilian patients with mucolipidosis iii gamma

Fernanda Sperb-Ludwig, Taciane Alegra, Renata Voltolini Velho, Nataniel Ludwig, Marina Siebert, Mariana Jobim, Filippo Vairo, Ida V.D. Schwartz

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)571-573
Number of pages3
JournalGenetics and Molecular Biology
Issue number3
StatePublished - Jul 1 2019


  • B-cell functions
  • Humoral immune response
  • Inborn error of metabolism
  • Mucolipidosis III gamma

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics


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