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Immune deficiency in Ataxia-Telangiectasia: a longitudinal study of 44 patients

Lookup NU author(s): Mhairi Anderson

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Abstract

Ataxia-Telangiectasia (A-T) is a genetic condition leading to neurological defects and immune deficiency. The nature of the immune deficiency is highly variable, and in some cases causes significant morbidity and mortality due to recurrent sinopulmonary infections. Although the neurological defects in A-T are progressive, the natural history of the immune deficiency in A-T has not been evaluated formally. In this study we analyse the clinical history and immunological data in 44 patients with A-T who attended the National Ataxia-Telangiectasia clinic in Nottingham between 2001 and 2011. Using patient medical records and Nottingham University Hospitals (NUH) National Health Service Trust medical IT systems, data regarding clinical history, use of immunoglobulin replacement therapy, total immunoglobulin levels, specific antibody levels and lymphocyte subset counts were obtained. T cell receptor spectratyping results in some patients were already available and, where possible, repeat blood samples were collected for analysis. This study shows that subtle quantitative changes in certain immunological parameters such as lymphocyte subset counts may occur in patients with A-T over time. However, in general, for the majority of patients the severity of immune deficiency (both clinically and in terms of immunological blood markers) does not seem to deteriorate significantly with time. This finding serves to inform the long-term management of this cohort of patients because, if recurrent respiratory tract infections present later in life, then other contributory factors (e.g. cough/swallowing difficulties, underlying lung disease) should be investigated aggressively. Our findings also offer some form of reassurance for parents of children with A-T, which is otherwise a progressively severely debilitating condition.


Publication metadata

Author(s): Chopra C, Davies G, Taylor M, Anderson M, Bainbridge S, Tighe P, McDermott EM

Publication type: Article

Publication status: Published

Journal: Clinical & Experimental Immunology

Year: 2014

Volume: 176

Issue: 2

Pages: 275-282

Print publication date: 01/05/2014

Online publication date: 09/04/2014

Acceptance date: 27/12/2013

ISSN (print): 0009-9104

ISSN (electronic): 1365-2249

Publisher: Wiley-Blackwell

URL: http://dx.doi.org/10.1111/cei.12262

DOI: 10.1111/cei.12262


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Funding

Funder referenceFunder name
1105528AT Society (IACR Rothamsted, Harpenden, AL5 2JQ, UK; Registered Charity)

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