Investigating the Variation of TREC/KREC in Combined Immunodeficiencies Article Swipe
Leila Shakerian
,
Maryam Nourizadeh
,
Mohsen Badalzadeh
,
Mohammad Reza Fazlollahi
,
Raheleh Shokouhi Shoormasti
,
Shiva Saghafi
,
Behnaz Esmaeili
,
Zahra Alizadeh
,
Stephan Borte
,
Massoud Houshmand
,
Lennart Hammarström
,
Zahra Pourpak
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.18502/ijaai.v20i4.6950
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.18502/ijaai.v20i4.6950
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.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.18502/ijaai.v20i4.6950
- OA Status
- gold
- Cited By
- 8
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3193789815
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3193789815Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.18502/ijaai.v20i4.6950Digital Object Identifier
- Title
-
Investigating the Variation of TREC/KREC in Combined ImmunodeficienciesWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2021Year of publication
- Publication date
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2021-08-11Full publication date if available
- Authors
-
Leila Shakerian, Maryam Nourizadeh, Mohsen Badalzadeh, Mohammad Reza Fazlollahi, Raheleh Shokouhi Shoormasti, Shiva Saghafi, Behnaz Esmaeili, Zahra Alizadeh, Stephan Borte, Massoud Houshmand, Lennart Hammarström, Zahra PourpakList of authors in order
- Landing page
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https://doi.org/10.18502/ijaai.v20i4.6950Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.18502/ijaai.v20i4.6950Direct OA link when available
- Concepts
-
Primary immunodeficiency, Immunodeficiency, Common variable immunodeficiency, Severe combined immunodeficiency, Immunology, Immunodeficiency Syndrome, Medicine, Internal medicine, Antibody, Biology, Genetics, Immune system, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
8Total citation count in OpenAlex
- Citations by year (recent)
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2025: 3, 2024: 3, 2023: 2Per-year citation counts (last 5 years)
- Related works (count)
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10Other works algorithmically related by OpenAlex
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