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Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia

Content Provider	Springer Nature Link
Author	Kraus, Matan Lev, Atar Simon, Amos J. Levran, Inbal Nissenkorn, Andrea Levi, Yonit B. Berkun, Yackov Efrati, Ori Amariglio, Ninette Rechavi, Gideon Somech, Raz
Copyright Year	2014
Abstract	Ataxia telangiectasia (AT) is a rare genetic, multi-system disorder characterized by neurodegeneration, chromosome instability, B and T cell immunodeficiency and a predisposition to cancer. We examined immunologic parameters reflecting cell development and proliferation and their relevancy to the clinical phenotype in affected individuals.AT patients from the AT National Clinic in Israel underwent immunological investigation. Their T and B cell workup included lymphocyte subset counts, immunoglobulin levels, responses to mitogenic stimulations, TCR-Vβ families and BCR immunoglobulin heavy chain spectratyping, TCR rearrangement excision circles (TRECs) and Kappa-deleting recombination excision circles (KRECs).Thirty-seven AT patients (median age 12.7 years, range 4.2–25.1) were evaluated. CD20 B and CD3 T lymphocytes were decreased in 67 % and 64 % of the patients, respectively, while only 33 % of the patients had reduced lymphoproliferative responses. Almost all AT patients displayed extremely low TRECs and KRECs levels, irrespective of their age. Those levels were correlated to one another and to the amounts of CD3+ and CD20+ cells, respectively. Abnormal TCR-Vβ repertoires were found with different degrees of clonality or reduced expression in these AT patients. There was no clear clustering of expansions to specific TCR-Vβ genes. PCR spectratyping analysis of the FR2 IgH BCR gene rearrangements in peripheral blood was abnormal in 50 % of the patients.The immunodeficiency associated with AT is combined, remains low over time and not progressive. It is characterized by low TREC and KREC copies suggestive of abnormal T and B cell neogenesis.
Starting Page	561
Ending Page	572
Page Count	12
File Format	PDF
ISSN	02719142
Journal	Journal of Clinical Immunology
Volume Number	34
Issue Number	5
e-ISSN	15732592
Language	English
Publisher	Springer US
Publisher Date	2014-05-01
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Ataxia telangiectasia ATM Combined immunodeficiency Kappa-deleting recombination excision circles KREC T cell recombination excision circles TREC Immunology Infectious Diseases Internal Medicine Medical Microbiology
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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