Journal of Clinical Immunology

, Volume 35, Issue 7, pp 624–637 | Cite as

Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience

  • Renata Baffelli
  • Lucia D. Notarangelo
  • Luisa Imberti
  • Michael S. Hershfield
  • Federico Serana
  • Ines Santisteban
  • Federica Bolda
  • Fulvio Porta
  • Arnalda Lanfranchi
Original Research



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.


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.


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.


The data obtained in our single center are comparable with those that have been reported in multicenter surveys.


Adenosine deaminase deficiency allogeneic haematopoietic stem cell transplantation enzyme replacement therapy with PEG-ADA 


Conflict of Interest

The authors declare that they have no conflict of interest. MSH and IS receive grant support from Sigma-Tau Pharmaceuticals, the manufacturer of Adagen.

Supplementary material

10875_2015_191_MOESM1_ESM.doc (39 kb)
ESM 1 Online Resource 1 (DOC 39 kb)
10875_2015_191_MOESM2_ESM.docx (20 kb)
ESM 2 Online Resource 2 (DOCX 19 kb)


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Renata Baffelli
    • 1
  • Lucia D. Notarangelo
    • 2
  • Luisa Imberti
    • 3
  • Michael S. Hershfield
    • 4
  • Federico Serana
    • 3
  • Ines Santisteban
    • 4
  • Federica Bolda
    • 1
  • Fulvio Porta
    • 2
  • Arnalda Lanfranchi
    • 1
  1. 1.Stem Cell Laboratory, Section of Hematology and Blood CoagulationChildren’s Hospital, Spedali Civili of BresciaBresciaItaly
  2. 2.Pediatric Onco-Haematology and BMT UnitChildren’s Hospital, Spedali Civili of BresciaBresciaItaly
  3. 3.Centro Ricerca Emato-oncologica AIL (CREA), Diagnostics DepartmentSpedali Civili of BresciaBresciaItaly
  4. 4.Department of MedicineDuke University Medical CenterDurhamUSA

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