| Title |
Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs)
|
|---|---|
| Published in |
Journal of Clinical Immunology, February 2015
|
| DOI | 10.1007/s10875-015-0136-6 |
| Pubmed ID | |
| Authors |
Jay P. Patel, Jennifer M. Puck, Rajgopal Srinivasan, Christina Brown, Uma Sunderam, Kunal Kundu, Steven E. Brenner, Richard A. Gatti, Joseph A. Church |
| Abstract |
Severe combined immunodeficiency (SCID) encompasses a group of disorders characterized by reduced or absent T-cell number and function and identified by newborn screening utilizing T-cell receptor excision circles (TRECs). This screening has also identified infants with T lymphopenia who lack mutations in typical SCID genes. We report an infant with low TRECs and non-SCID T lymphopenia, who proved upon whole exome sequencing to have Nijmegen breakage syndrome (NBS). |
Mendeley readers
The data shown below were compiled from readership statistics for 35 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Japan | 1 | 3% |
| United Kingdom | 1 | 3% |
| Mexico | 1 | 3% |
| United States | 1 | 3% |
| Unknown | 31 | 89% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Postgraduate | 7 | 20% |
| Student > Master | 4 | 11% |
| Student > Ph. D. Student | 4 | 11% |
| Student > Bachelor | 3 | 9% |
| Professor | 3 | 9% |
| Other | 9 | 26% |
| Unknown | 5 | 14% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 12 | 34% |
| Agricultural and Biological Sciences | 6 | 17% |
| Biochemistry, Genetics and Molecular Biology | 5 | 14% |
| Social Sciences | 2 | 6% |
| Nursing and Health Professions | 2 | 6% |
| Other | 2 | 6% |
| Unknown | 6 | 17% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 13 February 2015.
All research outputs
#20,259,845
of 22,789,566 outputs
Outputs from Journal of Clinical Immunology
#1,254
of 1,557 outputs
Outputs of similar age
#301,959
of 358,519 outputs
Outputs of similar age from Journal of Clinical Immunology
#12
of 29 outputs
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