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Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR

2 Dec 2011

Abstract excerpt

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 excision circles...

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PMID: 22130802
DOI: 10.1182/blood-2011-08-371021

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