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Newborn Screening Using Trec/Krec Assay for Severe T and B Cell Lymphopenia in Iran Publisher Pubmed



Nourizadeh M1 ; Shakerian L1 ; Borte S2, 3 ; Fazlollahi M1 ; Badalzadeh M1 ; Houshmand M4 ; Alizadeh Z1 ; Dalili H5 ; Rashidinezhad A6 ; Kazemnejad A7 ; Moin M1, 8 ; Hammarstrom L3 ; Pourpak Z1, 8
Authors
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Authors Affiliations
  1. 1. Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. ImmunoDeficiencyCenter Leipzig (IDCL), Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Municipal Hospital, Leipzig, Germany
  3. 3. Department of Laboratory Medicine, Division of Clinical Immunology, Karolinska University Hospital Huddinge, Stockholm, Sweden
  4. 4. Medical Genetics Department, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
  5. 5. Breastfeeding Research Center, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Maternal, Fetal and Neonatal Research Center, Tehran University of Medical Sciences, Tehran, Iran
  7. 7. Department of Biostatistics, Tarbiat Modares University, Tehran, Iran
  8. 8. Department of Immunology and Allergy, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran

Source: Scandinavian Journal of Immunology Published:2018


Abstract

T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs) are recently used for detection of T or B cell lymphopenia in neonates based on region-specific cutoff levels. Here, we report cutoffs for TREC and KREC copies useful for newborn screening and/or diagnosis of primary immunodeficiency diseases (PID) in Iran. DNA was extracted from a single 3.2 mm punch of dried blood spots collected from 2160 anonymized newborns referred to two major referral health centres between 2014 and 2016. For refinement of the cutoffs, 51 patients with a definite diagnosis of severe combined immunodeficiency, X-linked agammaglobulinaemia and combined immunodeficiency, including ataxia telangiectasia, human phosphoglucomutase 3 and Janus kinase-3 deficiency, as well as 47 healthy controls were included. Samples from patients with an X-linked hyper-IgM-syndrome, Wiskott-Aldrich syndrome and DNA ligase 4 deficiency were considered as disease controls. Triplex-quantitative real-time PCR was used. Cutoffs were calculated as TRECs < 11 and KRECs < 6 copies with an ACTB > 700 copies with sensitivity of 100% for TREC and 97% for KREC. Among thirty anonymized newborn samples (1.5%) with abnormal results for TREC and/or KREC, only twenty-one available cases were retested and shown to be in the normal range except for three samples (0.15%). All of the patients with a definitive diagnosis were correctly identified based on our established TREC/KREC copy numbers. Determining cutoffs for TREC/KREC is essential for correctly identifying children with PID in newborn screening. Early diagnosis of PID patients enables appropriate measures and therapies like stem cell transplantation. © 2018 The Foundation for the Scandinavian Journal of Immunology
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