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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Chopra, C. Davies, G. Taylor, M. Anderson, M. Bainbridge, S. Tighe, P. McDermott, E. M. |
| Description | Country affiliation: United kingdom Author Affiliation: Chopra C ( Immunology Department, Queen's Medical Centre, Nottingham, UK.) |
| 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. |
| File Format | HTM / HTML |
| ISSN | 00099104 |
| e-ISSN | 13652249 |
| DOI | 10.1111/cei.12262 |
| Journal | Clinical & Experimental Immunology |
| Issue Number | 2 |
| Volume Number | 176 |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2014-05-01 |
| Publisher Place | Great Britain (UK) |
| Access Restriction | Open |
| Subject Keyword | Discipline Immunology Ataxia Telangiectasia Immunology Immunologic Deficiency Syndromes Genetics Metabolism Complementarity Determining Regions Gene Expression Immunoglobulin A Immunoglobulin G Immunoglobulin M Longitudinal Studies Lymphocyte Count Receptors, Antigen, T-cell, Alpha-beta Reverse Transcriptase Polymerase Chain Reaction Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Article |
| Subject | Immunology and Allergy Immunology |
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