Neonatal Screening Test for Severe Combined Immunodeficiency of Primary Immunodeficiency Diseases: TREC Assay and Its Limitations
نویسندگان
چکیده
منابع مشابه
Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases
In Manitoba, Canada, the overall incidence of Severe Combined Immunodeficiency (SCID) is three-fold higher than the national average, with SCID overrepresented in two population groups: Mennonites and First Nations of Northern Cree ancestries. T-cell receptor excision circle (TREC) assay is being used increasingly for neonatal screening for SCID in North America. However, the majority of SCID p...
متن کاملNeonatal 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...
متن کاملNeonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.
Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt diagnosis and treatment to prevent life-threatening infections. The lack of functional T or B lymphocytes in these diseases serves as a diagnostic criterion and can be applied to neonatal screening. A robust triplex PCR method for quantitation of T-cell receptor...
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A five month-old girl was admitted in Ali Asghar Children’s Hospital with a history of three months of fever, cough and dyspnea that her symptoms have exacerbated since two weeks before admission. She was the first child of the family born to consanguineous parents. She was clinically healthy in the past and had gained weight normally and undergone vaccination program with no complication unti...
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ژورنال
عنوان ژورنال: MOJ Immunology
سال: 2016
ISSN: 2373-4442
DOI: 10.15406/moji.2016.03.00107