Neonatal screening for severe combined immunodeficiency in Brazil
نویسندگان
چکیده
منابع مشابه
Neonatal screening for severe combined immunodeficiency in Brazil.
OBJECTIVE To apply, in Brazil, the T-cell receptor excision circles (TRECs) quantification technique using real-time polymerase chain reaction in newborn screening for severe combined immunodeficiency and assess the feasibility of implementing it on a large scale in Brazil. METHODS 8715 newborn blood samples were collected on filter paper and, after DNA elution, TRECs were quantified by real-...
متن کاملScreening for severe combined immunodeficiency in neonates
Severe combined immunodeficiency (SCID) is a rare disease that severely affects the cellular and humoral immune systems. Patients with SCID present with recurrent or severe infections and often with chronic diarrhea and failure to thrive. The disease is uniformly fatal, making early diagnosis essential. Definitive treatment is hematopoietic stem cell transplantation, with best outcomes prior to...
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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,...
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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...
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ژورنال
عنوان ژورنال: Jornal de Pediatria
سال: 2016
ISSN: 0021-7557
DOI: 10.1016/j.jped.2015.10.006