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

2011; Elsevier BV; Volume: 119; Issue: 11 Linguagem: Inglês

10.1182/blood-2011-08-371021

1528-0020

Stephan Borte, Ulrika von Döbeln, Anders Fasth, Ning Wang, Magdalena Janzi, Jacek Winiarski, Ulrich Sack, Qiang Pan‐Hammarström, Michael Borte, Lennart Hammarström,

Cystic Fibrosis Research Advances

Abstract 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 (TRECs) and κ-deleting recombination excision circles (KRECs), using a single Guthrie card punch, was developed and validated in a cohort of 2560 anonymized newborn screening cards and in 49 original stored Guthrie cards from patients diagnosed with SCID, XLA, ataxia-telangiectasia, Nijmegen-breakage-syndrome, common variable immunodeficiency, immunoglobulin A deficiency, or X-linked hyper-IgMsyndrome. Simultaneous measurement of TREC and KREC copy numbers in Guthrie card samples readily identified patients with SCID, XLA, ataxia-telangiectasia and Nijmegen-breakage-syndrome and thus facilitates effective newborn screening for severe immunodeficiency syndromes characterized by the absence of T or B cells.