Title |
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience
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Published in |
Journal of Clinical Immunology, September 2015
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DOI | 10.1007/s10875-015-0191-z |
Pubmed ID | |
Authors |
Renata Baffelli, Lucia D. Notarangelo, Luisa Imberti, Michael S. Hershfield, Federico Serana, Ines Santisteban, Federica Bolda, Fulvio Porta, Arnalda Lanfranchi |
Abstract |
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. |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 24 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 6 | 25% |
Other | 4 | 17% |
Student > Bachelor | 3 | 13% |
Student > Ph. D. Student | 3 | 13% |
Student > Postgraduate | 2 | 8% |
Other | 2 | 8% |
Unknown | 4 | 17% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 7 | 29% |
Biochemistry, Genetics and Molecular Biology | 5 | 21% |
Agricultural and Biological Sciences | 3 | 13% |
Immunology and Microbiology | 2 | 8% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 4% |
Other | 2 | 8% |
Unknown | 4 | 17% |