title: Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.
abstract: OBJECTIVE
  We carried out a retrospective analysis of 27 patients with Adenosine Deaminase (ADA) deficiency diagnosed in a single center from 1997 to the 2013, for evaluating whether data regarding types of disease-inducing mutations, biochemical and immunological features as well as clinical outcomes of patients treated with enzyme replacement or transplantation, were comparable to those obtained in multicenter studies.
  
  
  METHODS
  The ADA deficiency diagnosis was performed with biochemical, immunological and molecular techniques. Ten patients treated with hematopoietic stem cell transplantation and three in treatment with enzyme replacement were followed up in our center.
  
  
  RESULTS
  Twenty-four different mutations were identified and five were not previously reported. Identical mutations were found among patients from the same Romani ethnic group or from the same geographical region. A more rapid recovery was observed in enzyme replacement treated patients in comparison with those transplanted that, however, showed a continuous and long-lasting improvement both in terms of immune and metabolic recovery.
  
  
  CONCLUSIONS
  The data obtained in our single center are comparable with those that have been reported in multicenter surveys.
authors.affiliation: Stem Cell Laboratory, Section of Hematology and Blood Coagulation, Children's Hospital, Spedali Civili of Brescia, Brescia, Italy.
authors.forename: Renata
authors.initials: R
authors.lastname: Baffelli
authors.affiliation: Pediatric Onco-Haematology and BMT Unit, Children's Hospital, Spedali Civili of Brescia, Brescia, Italy.
authors.forename: Lucia D
authors.initials: LD
authors.lastname: Notarangelo
authors.affiliation: Centro Ricerca Emato-oncologica AIL (CREA), Diagnostics Department, Spedali Civili of Brescia, Brescia, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Imberti
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, NC, USA.
authors.forename: Michael S
authors.initials: MS
authors.lastname: Hershfield
authors.affiliation: Centro Ricerca Emato-oncologica AIL (CREA), Diagnostics Department, Spedali Civili of Brescia, Brescia, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Serana
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, NC, USA.
authors.forename: Ines
authors.initials: I
authors.lastname: Santisteban
authors.affiliation: Stem Cell Laboratory, Section of Hematology and Blood Coagulation, Children's Hospital, Spedali Civili of Brescia, Brescia, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Bolda
authors.affiliation: Pediatric Onco-Haematology and BMT Unit, Children's Hospital, Spedali Civili of Brescia, Brescia, Italy.
authors.forename: Fulvio
authors.initials: F
authors.lastname: Porta
authors.affiliation: Stem Cell Laboratory, Section of Hematology and Blood Coagulation, Children's Hospital, Spedali Civili of Brescia, Brescia, Italy. arnalda.lanfranchi@spedalicivili.brescia.it.
authors.forename: Arnalda
authors.initials: A
authors.lastname: Lanfranchi
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism*; D000361:Agammaglobulinemia / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D056947:Enzyme Replacement Therapy; D005260:Female; D005500:Follow-Up Studies; D015316:Genetic Therapy; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D009154:Mutation / Q000235:genetics; D012189:Retrospective Studies; D006178:Romani People; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D016896:Treatment Outcome
chemical_list: D000243:Adenosine Deaminase
keywords: Adenosine deaminase deficiency; allogeneic haematopoietic stem cell transplantation; enzyme replacement therapy with PEG-ADA