[Extending neonatal screening to the detection of severe combined immunodeficiencies. A moral imperative].
نویسندگان
چکیده
a Sección de Alergia e Inmunología Clínica, Hospital Sant Joan de Déu, Barcelona, Spain b Consulta Immunologia i Al·lèrgia Pediàtrica, Hospital General de Granollers, Barcelona, Spain c Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Hospital Universitari Vall d’Hebron, Institut de Recerca Vall d’Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain d Grup d’Immunodeficiències Primàries de la Societat Catalana de Pediatria i Societat Catalana d’Immunologia, Spain
منابع مشابه
A 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 کاملPrevalence and Assessment of the Appropriate Laboratory Indices for Screening of Hemoglobinopathyies in Southern Iranian Newborns
Introduction: Newborn screening is a systematic application of tests for early detection, diagnosis, and treatment of certain genetic or metabolic disorders that may lead to mortality and morbidity if untreated. As stated by WHO, each year over 330,000 babies are born worldwide with a severe form of hemoglobinopathy. Newborn screening for hemoglobinopathies could become one of the most importan...
متن کاملA multiplex immunoassay using the Guthrie specimen to detect T-cell deficiencies including severe combined immunodeficiency disease.
BACKGROUND Severe combined immunodeficiency (SCID) fulfills many of the requirements for addition to a newborn screening panel. Two newborn screening SCID pilot studies are now underway using the T-cell receptor excision circle (TREC) assay, a molecular technique. Here we describe an immunoassay with CD3 as a marker for T cells and CD45 as a marker for total leukocytes that can be used with the...
متن کاملNewborn Screening for Severe Combined Immunodeficiencies Using Trecs and Krecs: Second Pilot Study in Brazil
OBJECTIVE To validate the quantification of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) by real-time polymerase chain reaction (qRT-PCR) for newborn screening of primary immunodeficiencies with defects in T and/or B cells in Brazil. METHODS Blood samples from newborns and controls were collected on filter paper. DNA was extracted and TREC...
متن کاملGuidelines for newborn screening of primary immunodeficiency diseases.
PURPOSE OF REVIEW Technical possibilities to screen for inborn errors of immune function at the neonatal stage have been rapidly progressing, whereas the guidelines that apply for the evaluation of benefits and concerns on expanding screening panels have not been broadly discussed for primary immunodeficiency diseases (PID). This review reflects on the assessment of severe combined immunodefici...
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عنوان ژورنال:
- Anales de pediatria
دوره 81 5 شماره
صفحات -
تاریخ انتشار 2014