T–Cell Receptor Excision Circles in HIV–Exposed, Uninfected Newborns Measured During a National Newborn Screening Program for Severe Combined Immunodeficiency
نویسندگان
چکیده
منابع مشابه
Newborn screening for severe combined immunodeficiency (SCID): a review.
Because prompt intervention may prevent complications, early diagnosis is important in many inherited metabolic diseases. Early diagnosis of Severe Combined Immunodeficiency (SCID) is critical - because chances for successful treatment are highest for infants who have not yet experienced severe opportunistic infections. SCID is a rare disease that can be detected in newborn infants (i.e., those...
متن کاملNewborn Screening for Severe Combined Immunodeficiency in Israel
Newborn screening (NBS) programs for severe combined immunodeficiency (SCID), the most severe type of primary immunodeficiency, are being implemented in more and more countries with every passing year. Since October 2015, SCID screening via T cell receptor excision circle (TREC) quantification in dried blood spots (DBS) has been part of the Israeli NBS program. As an NBS program in its infancy,...
متن کاملA Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay
Severe combined immunodeficiency (SCID) is a life-threatening condition of newborns and infants caused by defects in genes involved in T cell development. Newborn screening (NBS) for SCID using the T cell receptor excision circle (TREC) assay began in Wisconsin in 2008 and has been adopted or is being implemented by all states in 2017. It has been established that NBS using the TREC assay is ex...
متن کاملA Call to Include Severe Combined Immunodeficiency in Newborn Screening Program
UNLABELLED Quantification of the T cell receptor excision circles (TRECs) has recently emerged as a useful non-invasive clinical and research tool to investigate thymic activity. It allows the identification of T cell production by the thymus. Quantification of TREC copies has recently been implemented as the preferred test to screen neonates with severe combined immunodeficiency (SCID) or sign...
متن کاملChallenges of newborn severe combined immunodeficiency screening among premature infants.
Newborn screening for severe combined immunodeficiency (SCID) is currently being performed in many states. It is important to address diagnostic challenges while outcomes are emerging from the first several years of screening. We present the case of a premature infant whose initial newborn screen was strongly positive for SCID. Subsequent lymphocyte subset analysis by flow cytometry was difficu...
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ژورنال
عنوان ژورنال: Pediatrics
سال: 2019
ISSN: 0031-4005,1098-4275
DOI: 10.1542/peds.2019-2461kkkk