| Title |
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience
|
|---|---|
| Published in |
Journal of Clinical Immunology, September 2015
|
| 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. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 25 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 6 | 24% |
| Other | 4 | 16% |
| Student > Bachelor | 3 | 12% |
| Student > Ph. D. Student | 3 | 12% |
| Student > Postgraduate | 2 | 8% |
| Other | 3 | 12% |
| Unknown | 4 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 28% |
| Biochemistry, Genetics and Molecular Biology | 5 | 20% |
| Agricultural and Biological Sciences | 3 | 12% |
| Immunology and Microbiology | 2 | 8% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 4% |
| Other | 3 | 12% |
| Unknown | 4 | 16% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 16 October 2017.
All research outputs
#6,428,662
of 22,840,638 outputs
Outputs from Journal of Clinical Immunology
#431
of 1,560 outputs
Outputs of similar age
#70,335
of 245,096 outputs
Outputs of similar age from Journal of Clinical Immunology
#3
of 16 outputs
Altmetric has tracked 22,840,638 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 1,560 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.4. This one has gotten more attention than average, scoring higher than 71% of its peers.
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We're also able to compare this research output to 16 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 75% of its contemporaries.