Title |
Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia
|
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Published in |
Journal of Clinical Immunology, December 2012
|
DOI | 10.1007/s10875-012-9846-1 |
Pubmed ID | |
Authors |
Jacob Mallott, Antonia Kwan, Joseph Church, Diana Gonzalez-Espinosa, Fred Lorey, Ling Fung Tang, Uma Sunderam, Sadhna Rana, Rajgopal Srinivasan, Steven E. Brenner, Jennifer Puck |
Abstract |
Severe combined immunodeficiency (SCID) is characterized by failure of T lymphocyte development and absent or very low T cell receptor excision circles (TRECs), DNA byproducts of T cell maturation. Newborn screening for TRECs to identify SCID is now performed in several states using PCR of DNA from universally collected dried blood spots (DBS). In addition to infants with typical SCID, TREC screening identifies infants with T lymphocytopenia who appear healthy and in whom a SCID diagnosis cannot be confirmed. Deep sequencing was employed to find causes of T lymphocytopenia in such infants. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 1 | 1% |
Spain | 1 | 1% |
Russia | 1 | 1% |
Unknown | 72 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 14 | 19% |
Student > Ph. D. Student | 8 | 11% |
Student > Postgraduate | 7 | 9% |
Student > Bachelor | 7 | 9% |
Other | 6 | 8% |
Other | 18 | 24% |
Unknown | 15 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 26 | 35% |
Biochemistry, Genetics and Molecular Biology | 14 | 19% |
Agricultural and Biological Sciences | 11 | 15% |
Computer Science | 3 | 4% |
Nursing and Health Professions | 2 | 3% |
Other | 2 | 3% |
Unknown | 17 | 23% |