title: Immune tolerance induced using plasma exchange and rituximab in an infantile Pompe disease patient.
abstract: 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 anti-recombinant 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 infusion-associated 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.
authors.affiliation: Division of Metabolism, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy federica.deodato@opbg.net.
authors.forename: Federica
authors.initials: F
authors.lastname: Deodato
authors.affiliation: Division of Metabolism, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Virginia Maria
authors.initials: VM
authors.lastname: Ginocchio
authors.affiliation: Pediatric Intensive Care Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Onofri
authors.affiliation: Department of Pediatric Cardiology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Giorgia
authors.initials: G
authors.lastname: Grutter
authors.affiliation: Pediatric Intensive Care Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Germani
authors.affiliation: Division of Metabolism, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Dionisi-Vici
mesh_terms: D000906:Antibodies / Q000097:blood; D058846:Antibodies, Monoclonal, Murine-Derived / Q000627:therapeutic use*; D015703:Antigens, CD / Q000097:blood; D003241:Consanguinity; D006009:Glycogen Storage Disease Type II / Q000276:immunology* / Q000628:therapy*; D006026:Glycoside Hydrolases / Q000276:immunology; D006801:Humans; D007108:Immune Tolerance / Q000187:drug effects*; D007155:Immunologic Factors / Q000627:therapeutic use*; D007223:Infant; D010951:Plasma Exchange; D000069283:Rituximab
chemical_list: D000906:Antibodies; D058846:Antibodies, Monoclonal, Murine-Derived; D015703:Antigens, CD; D007155:Immunologic Factors; D000069283:Rituximab; D006026:Glycoside Hydrolases; C096734:alpha-glucuronidase
keywords: Pompe; anti-recombinant human acid α-glucosidase antibodies; immune modulation; lysosomal; rituximab