TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss
- 180 Downloads
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.
KeywordsImmunodeficiency TAP-deficiency Chronic rhinosinusitis Ear
- 5.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 354:1598–1603PubMedCrossRefGoogle Scholar
- 8.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 103:9–13CrossRefGoogle Scholar