| چکیده انگلیسی مقاله |
T-cell receptor excision circles (TREC)/Kappa-deleting recombination excision circles (KREC) assay has been recently recognized for detecting patients with primary (T- and/or B-cell) immunodeficiency (PID). We aimed to investigate the alterations of these biomarkers in some combined immunodeficiency patients compared to the healthy controls in different age groups. TREC and KREC were assessed in a total of 82 PID patients, most of them with exact genetic diagnosis (3 months to 42 years); using quantitative real-time-polymerase chain reaction (PCR). Patients had a final diagnosis of common variable immunodeficiency (n=23), ataxia-telangiectasia (AT) (n=17), hyper-IgE syndrome (HIES) (7 with DOCK8 deficiency, 4 with signal transducer and activator of transcription 3 (STAT3) deficiency, and 8 children with unknown genetic defects), Wiskott-Aldrich syndrome (WAS) (n=20), purine nucleoside phosphorylase (PNP)deficiency(n=1), dedicator of cytokinesis2 (DOCK2) deficiency (n=1), recombinase activating gene1 (RAG1) deficiency (n=1). Very low to zero amounts of TREC and/or KREC were detected in 14 out of 23 cases of common variable immunodeficiency (CVID), 14 out of 17 cases of AT, 8 out of 20 cases of WAS, 6 out of 7 cases of DOCK8-deficiency patients, 4 out of 8 cases of HIES with unknown genetic defects and all patients with defects in DOCK2, PNP, and RAG1. STAT3-deficient patients were normal for both biomarkers. All patients showed a significant difference in both markers compared to age-matched healthy controls. Our findings highlight that apart from severe types of T/B cell defects, this assay can also be used for early diagnosis the patients with late-onset of disease and even PIDs without a positive family history. |
| نویسندگان مقاله |
| Leila Shakerian
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
| Maryam Nourizadeh
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
| Mohsen Badalzadeh
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
| Mohammad Reza Fazlollahi
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
| Raheleh Shokouhi Shoormasti
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
| Shiva Saghafi
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
| Behnaz Esmaeili
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
| Zahra Alizadeh
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
| Stephan Borte
Immuno Deficiency Center Leipzig (IDCL), Hospital St. Georg GmbH Leipzig, Academic Teaching Hospital of the University of Leipzig, Leipzig, Germany
| Massoud Houshmand
Department of Medical Genetics National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
| Lennart Hammarström
Department of Laboratory Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden
| Zahra Pourpak
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
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