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

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.

journal_name

J Clin Immunol

journal_title

Journal of clinical immunology

authors

Baffelli R,Notarangelo LD,Imberti L,Hershfield MS,Serana F,Santisteban I,Bolda F,Porta F,Lanfranchi A

doi

10.1007/s10875-015-0191-z

subject

Has Abstract

pub_date

2015-10-01 00:00:00

pages

624-37

issue

7

eissn

0271-9142

issn

1573-2592

pii

10.1007/s10875-015-0191-z

journal_volume

35

pub_type

杂志文章

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