| Title |
Diagnosis of 22q11.2 Deletion Syndrome and Artemis Deficiency in Two Children with T-B-NK+ Immunodeficiency
|
|---|---|
| Published in |
Journal of Clinical Immunology, August 2012
|
| DOI | 10.1007/s10875-012-9741-9 |
| Pubmed ID | |
| Authors |
Jennifer Heimall, Michael Keller, Rushani Saltzman, Nancy Bunin, Donna McDonald-McGinn, Elaine Zakai, Jean-Pierre de Villartay, Despina Moshous, Barbara Ariue, Elizabeth A. McCarthy, Blythe H. Devlin, Suhag Parikh, Rebecca H. Buckley, M. Louise Markert |
| Abstract |
Two infants are described who presented with 22q11.2 deletion and a T(-)B(-)NK(+) immune phenotype. For both infants, the initial diagnosis was athymia secondary to complete DiGeorge anomaly. The first infant underwent thymus transplantation but 6 months after transplantation had circulating thymus donor T cells; the patient did not develop recipient naïve T cells. Genetic analyses revealed that both patients had Artemis deficiency, a rare form of severe combined immunodeficiency (SCID). Both infants have subsequently undergone bone marrow transplantation. These cases illustrate the importance and paradox of differentiating SCID from complete DiGeorge anomaly because hematopoietic stem cell transplantation (HSCT) is the preferred treatment for SCID but is ineffective for complete DiGeorge anomaly. However, if the thymus is completely absent, donor stem cells from a HSCT would not be able to be educated. |
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 % |
|---|---|---|
| Australia | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Denmark | 1 | 3% |
| Unknown | 37 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Doctoral Student | 6 | 16% |
| Student > Master | 5 | 13% |
| Researcher | 5 | 13% |
| Other | 4 | 11% |
| Student > Ph. D. Student | 4 | 11% |
| Other | 6 | 16% |
| Unknown | 8 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 20 | 53% |
| Biochemistry, Genetics and Molecular Biology | 5 | 13% |
| Agricultural and Biological Sciences | 2 | 5% |
| Linguistics | 1 | 3% |
| Unknown | 10 | 26% |
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 21 November 2023.
All research outputs
#7,760,872
of 24,892,887 outputs
Outputs from Journal of Clinical Immunology
#574
of 1,738 outputs
Outputs of similar age
#52,069
of 169,562 outputs
Outputs of similar age from Journal of Clinical Immunology
#12
of 28 outputs
Altmetric has tracked 24,892,887 research outputs across all sources so far. This one has received more attention than most of these and is in the 68th percentile.
So far Altmetric has tracked 1,738 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.7. This one has gotten more attention than average, scoring higher than 66% of its peers.
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We're also able to compare this research output to 28 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 60% of its contemporaries.