Immune tolerance induced using plasma exchange and rituximab in an infantile pompe disease patient

Federica Deodato, Virginia Maria Ginocchio, Alfredo Onofri, Giorgia Grutter, Alessandro Germani, Carlo Dionisi-Vici

Research output: Contribution to journalArticlepeer-review


Infantile Pompe disease, resulting from deficiency of lysosomal acid α-glucosidase, requires enzyme replacement therapy with recombinant human acid α-glucosidase. Most patients develop antirecombinant human acid α-glucosidase antibodies, leading to reduced response to enzyme therapy in a subgroup of them. Aiming to improve treatment response, several immune tolerance induction strategies have been explored. We describe a patient with life-threatening infusion-associated reactions presenting antirecombinant human acid α-glucosidase antibodies. He was successfully treated with an immune tolerance induction protocol, consisting of plasma exchange combined with a single dose of rituximab. Immediate reduction of antibody titer was obtained and enzyme therapy was resumed without infusion-associated reactions. Twenty-two months later, immunoglobulin G titer remained below 1:100. In conclusion, we applied a short-course immune tolerance induction strategy in a patient with severe infusionassociated reactions and anti-recombinant human acid α-glucosidase antibodies, leading to early and persisting reduction of antibody titer, in the absence of significant adverse events.

Original languageEnglish
Pages (from-to)850-854
Number of pages5
JournalJournal of Child Neurology
Issue number6
Publication statusPublished - 2014


  • Anti-recombinant human acid α-glucosidase antibodies
  • Immune modulation
  • Lysosomal
  • Pompe
  • Rituximab

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

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