A novel mutation for TAP deficiency and its possible association with Toxoplasmosis

Dogu F., Ikinciogullari A., Fricker D., Bozdogan G. , Aytekin C., Ileri M., ...More

PARASITOLOGY INTERNATIONAL, vol.55, no.3, pp.219-222, 2006 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 3
  • Publication Date: 2006
  • Doi Number: 10.1016/j.parint.2006.02.003
  • Page Numbers: pp.219-222


We describe two siblings (a male patient and his older sister) with a novel mutation in the peptide transporter associated to antigen processing (TAP). The index case presented with not only granulomatous skin lesions and recurrent sino-pulmonary infections, often associated with this deficiency, but also a severe pulmonary toxoplasmosis. His toxoplasmosis and skin lesions were successfully treated. (c) 2006 Elsevier Ireland Ltd. All rights reserved.