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01-10-2015 | Original Research

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

Authors: Renata Baffelli, Lucia D. Notarangelo, Luisa Imberti, Michael S. Hershfield, Federico Serana, Ines Santisteban, Federica Bolda, Fulvio Porta, Arnalda Lanfranchi

Published in: Journal of Clinical Immunology | Issue 7/2015

Abstract

Purpose

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.

Conclusion

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

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Title: Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience
Authors: Renata Baffelli
Lucia D. Notarangelo
Luisa Imberti
Michael S. Hershfield
Federico Serana
Ines Santisteban
Federica Bolda
Fulvio Porta
Arnalda Lanfranchi
Publication date: 01-10-2015
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 7/2015
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-015-0191-z

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