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TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss

Caversaccio, Marco ; Bonél, Harald ; Carter, Rachel ; Williams, Anthony ; Gadola, Stephan

In: European Archives of Oto-Rhino-Laryngology, 2008, vol. 265, no. 10, p. 1289-1292

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    Titre
    • TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss
    Auteur
    • Caversaccio, Marco. Department of ENT, Head and Neck Surgery, Inselspital, University of Berne, Freiburgstrasse, 3010, Berne, Switzerland
    • Bonél, Harald. Institute of Diagnostic, Interventional and Pediatric Radiology, Inselspital, University of Berne, Berne, Switzerland
    • Carter, Rachel. Division of Cancer Sciences, Southampton University School of Medicine, SO16 6YD, Southampton, UK
    • Williams, Anthony. Division of Cancer Sciences, Southampton University School of Medicine, SO16 6YD, Southampton, UK
    • Gadola, Stephan. Department of Rheumatology and Clinical Immunology, Inselspital, University of Berne, Berne, Switzerland
    Type de document
    • Postprint
    Langue
    • Inglese
    Publié dans
    • European Archives of Oto-Rhino-Laryngology, 2008, vol. 265, no. 10, p. 1289-1292. Springer-Verlag
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:315591
    Summary
    Nose-ear-throat manifestations of immunodeficiency disorders represent a diagnostic challenge for clinicians as these diseases often constitute the initial sign for connective disorders or autoimmune disease. The history of chronic rhinosinusitis and conductive hearing loss is often non specific. Therefore attention to an HLA class I deficiency must be considered if the disease has not been diagnosed on routine examination. One of the syndromes is due to a defective TAP complex, the peptide transporter complex associated with antigen presentation. Herein, we report two sisters with TAP-deficiency. The treatment of choice for TAP-deficient patients is conservative