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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 1/2021

01-01-2021 | Primary Immunodeficiency | Original Article

Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia

Authors: Tannaz Moeini Shad, Bahman Yousefi, Parisa Amirifar, Samaneh Delavari, William Rae, Parviz Kokhaei, Hassan Abolhassani, Asghar Aghamohammadi, Reza Yazdani

Published in: Journal of Clinical Immunology | Issue 1/2021

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Abstract

Background

Ataxia-telangiectasia (AT) is a rare genetic condition, caused by biallelic deleterious variants in the ATM gene, and has variable immunological abnormalities. This study aimed to examine immunologic parameters reflecting cell development, activation, proliferation, and class switch recombination (CSR) and determine their relationship to the clinical phenotype in AT patients.

Methods

In this study, 40 patients with a confirmed diagnosis of AT from the Iranian immunodeficiency registry center and 28 age-sex matched healthy controls were enrolled. We compared peripheral B and T cell subsets and T cell proliferation response to CD3/CD28 stimulation in AT patients with and without CSR defects using flow cytometry.

Results

A significant decrease in naïve, transitional, switched memory, and IgM only memory B cells, along with a sharp increase in the marginal zone-like and CD21low B cells was observed in the patients. We also found CD4+ and CD8+ naïve, central memory, and terminally differentiated effector memory CD4+ (TEMRA) T cells were decreased. CD4+ and CD8+ effector memory, CD8+ TEMRA, and CD4+ regulatory T cells were significantly elevated in our patients. CD4+ T cell proliferation was markedly impaired compared to the healthy controls. Moreover, immunological investigations of 15 AT patients with CSR defect revealed a significant reduction in the marginal zone, switched memory, and more intense defects in IgM only memory B cells, CD4+ naïve and central memory T cells.

Conclusion

The present study revealed that patients with AT have a broad spectrum of cellular and humoral deficiencies. Therefore, a detailed evaluation of T and B cell subsets increases understanding of the disease in patients and the risk of infection.
Appendix
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Metadata
Title
Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia
Authors
Tannaz Moeini Shad
Bahman Yousefi
Parisa Amirifar
Samaneh Delavari
William Rae
Parviz Kokhaei
Hassan Abolhassani
Asghar Aghamohammadi
Reza Yazdani
Publication date
01-01-2021
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 1/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-020-00881-9

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