Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR
| Autor: | Michael Borte, Lennart Hammarström, Anders Fasth, Ulrika von Döbeln, Qiang Pan-Hammarström, Ning Wang, Magdalena Janzi, Jacek Winiarski, Ulrich Sack, Stephan Borte |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
medicine.medical_specialty
Immunology Receptors Antigen T-Cell Real-Time Polymerase Chain Reaction Biochemistry Immunodeficiency Syndrome 03 medical and health sciences 0302 clinical medicine Neonatal Screening Predictive Value of Tests Internal medicine Immunopathology medicine Humans 030304 developmental biology 0303 health sciences Newborn screening Severe combined immunodeficiency Hematology business.industry Common variable immunodeficiency Infant Newborn Cell Biology medicine.disease Virology 3. Good health Primary immunodeficiency Severe Combined Immunodeficiency business Multiplex Polymerase Chain Reaction Nijmegen breakage syndrome 030215 immunology |
| Zdroj: | Blood |
| ISSN: | 1528-0020 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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