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T-Cell Immunodeficiency in CHARGE syndrome

Authors

  • Charu Chopra,

    1. Department of Immunology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester LE1 5WW, UK
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  • Richard Baretto,

    1. Department of Immunology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester LE1 5WW, UK
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  • Michael Duddridge,

    1. Department of Immunology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester LE1 5WW, UK
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  • Michael J. Browning

    1. Department of Immunology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester LE1 5WW, UK
    2. Department of Infection, Immunity and Inflammation, University of Leicester, Medical Sciences Building, University Road, Leicester LE1 9HN, UK
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Correspondence
Dr. Michael Browning, Department of Immunology, Leicester Royal Infirmary, Leicester LE1 5WW, UK. Tel: +44 116 252 2936 | Fax. +44 116 252 5030 | Email: mjb22@le.ac.uk

Abstract

CHARGE syndrome comprises coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genitourinary anomalies and ear and hearing defects. The association between CHARGE syndrome and T-cell immunodeficiency is recognized, but has not been reported widely in the literature. We report four patients meeting the diagnostic criteria for CHARGE syndrome, who had moderate or severe T-cell lymphopenia complicated by infections. The patients presented in Leicester, UK, between 2000 and 2007. All patients were negative for 22q11.2 deletions by FISH analysis, but mutations in the CHD7 gene were identified in three patients in whom the analysis was performed. Our cases indicate that patients with CHARGE syndrome may have a spectrum of T-cell immune deficiency, and that this association may be more common than has previously been appreciated. We recommend that all patients diagnosed with CHARGE syndrome should have lymphocyte subsets evaluated as part of their initial investigation.

Conclusion: Thymic hypoplasia should be included in the clinical features associated with CHARGE syndrome. All patients with CHARGE syndrome should have lymphocyte subset analysis performed, to exclude T-cell immunodeficiency.

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