TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss

Eur Arch Otorhinolaryngol. 2008 Oct;265(10):1289-92. doi: 10.1007/s00405-008-0610-3. Epub 2008 Feb 19.

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.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / metabolism*
  • Adult
  • Biomarkers / metabolism
  • Chronic Disease
  • Diagnosis, Differential
  • Female
  • Flow Cytometry
  • Hearing Loss, Conductive / complications*
  • Hearing Loss, Conductive / diagnosis
  • Hearing Loss, Conductive / metabolism
  • Histocompatibility Antigens Class I
  • Humans
  • Magnetic Resonance Imaging
  • Rhinitis / complications*
  • Rhinitis / diagnosis
  • Rhinitis / metabolism
  • Sinusitis / complications*
  • Sinusitis / diagnosis
  • Sinusitis / metabolism
  • Syndrome

Substances

  • ATP-Binding Cassette Transporters
  • Biomarkers
  • Histocompatibility Antigens Class I
  • transporter associated with antigen processing (TAP)