TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss

Caversaccio, Marco; Bonél, Harald Marcel; Carter, Rachel; Williams, Anthony P; Gadola, Stephan D (2008). TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss. European archives of oto-rhino-laryngology, 265(10), pp. 1289-1292. Berlin: Springer-Verlag 10.1007/s00405-008-0610-3

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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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Ear, Nose and Throat Disorders (ENT)
04 Faculty of Medicine > Department of Radiology, Neuroradiology and Nuclear Medicine (DRNN) > Institute of Diagnostic, Interventional and Paediatric Radiology

UniBE Contributor:

Caversaccio, Marco and Bonel, Harald Marcel

ISSN:

0937-4477

ISBN:

18283480

Publisher:

Springer-Verlag

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 15:01

Last Modified:

26 Jun 2018 14:08

Publisher DOI:

10.1007/s00405-008-0610-3

PubMed ID:

18283480

Web of Science ID:

000258758200023

BORIS DOI:

10.7892/boris.26257

URI:

https://boris.unibe.ch/id/eprint/26257 (FactScience: 67952)

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