Abstract
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.
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References
Pamer E, Cresswell P (1998) Mechanisms of MHC class I-restricted antigen processing. Annu Rev Immunol 16:323–358
Colonna M (1997) Specificity and function of immunoglobulin superfamily NK cell inhibitory and stimulatory receptors. Immunol Rev 155:127–133
Gadola SD, Moins-Teisserenc HT, Trowsdale J, Gross WL, Cerandolo V (2000) TAP deficiency syndrome. Clin Exp Immunol 121:173–178
Townsend A, Ohlen C, Bastin J, Ljunggren HG, Foster L, Karre K (1989) Association of class I major histocompatibility heavy and light chains induced by viral peptides. Nature 340:443–448
Moins-Teisserenc HT, Gadola SD, Cella M, Dunbar PR, Exley A, Blake N, Baycal C, Lambert J, Bigliardi P, Willemsen M, Jones M, Buechner S, Colonna M, Gross WL, Cerundolo V (1999) Association of a syndrome resembling Wegener’s granulomatosis with low surface expression of HLA class-I molecules. Lancet 354:1598–1603
Rasmussen N (2001) Management of the ear, nose, and throat manifestations of Wegener granulomatosis: an otorhinolaryngologist’s perspective. Curr Opin Rheumatol 13:3–11
Papadimitraki ED, Kyrmizakis DE, Kritikos I, Boumpas DT (2004) Ear-nose-throat manifestations of autoimmune rheumatic diseases. Clin Exp Rheumatol 22:485–494
De la Salle H, Zimmer J, Fricker D, Urlacher A, Kelly A, Salamero J, Powis SH, Donato L, Bausinger H, Laforet M, Jeras M, Spehner D, Bieber T, Falkenrodt A, Cazenave JP, Trowsdale J, Tongio MM (1999) HLA class I deficiencies due to mutations in subunit 1 of peptide transporter TAP1. J Clin Invest 103:9–13
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Caversaccio, M., Bonél, H.M., Carter, R. et al. TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss. Eur Arch Otorhinolaryngol 265, 1289–1292 (2008). https://doi.org/10.1007/s00405-008-0610-3
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DOI: https://doi.org/10.1007/s00405-008-0610-3