title: [Treatment of adenosine deaminase deficiency with adenosine deaminase combined with polyethylene glycol].
abstract: Adenosine deaminase (ADA) deficiency is one the causes of severe combined immunodeficiency syndrome. Treatment was, until now, based on bone marrow transplantation. HLA identical bone marrow transplantation yields excellent results while those of HLA haploidentical bone marrow transplantation are not so good. A new therapeutic approach was developed recently, consisting of the intramuscular infusion of ADA enzyme covalently linked to polyethylene glycol (PEG-ADA). We report the results of this treatment in a 14 month-old child presenting with a partial form of ADA deficiency revealed by an opportunistic infection. This treatment corrected the immunodeficiency and the biochemical abnormalities as well. PEG-ADA infusions were well tolerated. The onset of an immunization against the ADA enzyme led to a drop in immunologic functions, which could be partially overcome by more frequent (biweekly) administration of the product. After a 18 month-follow-up the child is doing well, living normally at home. PEG-ADA represents a possible alternative for children presenting with ADA deficiency without any available HLA identical donor.
authors.affiliation: Unité d'Immuno-Hématologie, INSERM U132, Hôpital des Enfants-Malades, Paris.
authors.forename: D
authors.initials: D
authors.lastname: Girault
authors.forename: F
authors.initials: F
authors.lastname: Le Deist
authors.forename: M
authors.initials: M
authors.lastname: Debré
authors.forename: J L
authors.initials: JL
authors.lastname: Pérignon
authors.forename: C
authors.initials: C
authors.lastname: Herbelin
authors.forename: C
authors.initials: C
authors.lastname: Griscelli
authors.forename: D
authors.initials: D
authors.lastname: Sciudery
authors.forename: M
authors.initials: M
authors.lastname: Hershfield
authors.forename: A
authors.initials: A
authors.lastname: Fischer
mesh_terms: D000243:Adenosine Deaminase / Q000008:administration & dosage* / Q000172:deficiency* / Q000627:therapeutic use; D004338:Drug Combinations; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D011092:Polyethylene Glycols / Q000008:administration & dosage* / Q000627:therapeutic use; D016511:Severe Combined Immunodeficiency / Q000188:drug therapy* / Q000209:etiology
chemical_list: D004338:Drug Combinations; D011092:Polyethylene Glycols; D000243:Adenosine Deaminase
vernacular_title: Traitement du déficit en adénosine désaminase par l'adénosine désaminase couplée au polyéthylène glycol.