期刊
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
卷 129, 期 3, 页码 597-606出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jaci.2011.12.964
关键词
T-cell receptor recombination excision circles; dried bloodspots; severe combined immunodeficiency; T-cell lymphopenia; T-cell function studies; early treatment; molecular testing
资金
- National Institute of Allergy and Infectious Diseases
Early recognition of severe combined immunodeficiency (SCID) is a pediatric emergency because a diagnosis before live vaccines or nonirradiated blood products are given and before development of infections permits lifesaving unfractionated HLA-identical or T cell-depleted haploidentical hematopoietic stem cell transplantation, enzyme replacement therapy, or gene therapy. The need for newborn screening for this condition has been recognized for the past 15 years. However, implementation of screening required development of an assay for T-cell lymphopenia that could be performed on dried bloodspots routinely collected from newborn infants for the past 48 years. This was accomplished 6 years ago, and there have already been 7 successful pilot studies. A recommendation to add SCID to the routine newborn-screening panel was approved by the Secretary's Advisory Committee on Heritable Disorders of Newborns and Children in 2010 and was soon after approved by the Secretary of Health and Human Services. It is important for allergists, immunologists, and other health care providers to take an active role in promoting newborn screening for SCID and other T-lymphocyte abnormalities in their states. Even more important will be their roles in establishing accurate diagnoses for infants with positive screen results and in ensuring that they are given the best possible treatment. (J Allergy Clin Immunol 2012; 129: 597-604.)
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