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

DOĞU E. F., İKİNCİOĞULLARI K. A., Fricker D., Bozdogan G., Aytekin C., Ileri M., ...More

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

  • Publication Type: Article / Article
  • Volume: 55 Issue: 3
  • Publication Date: 2006
  • Doi Number: 10.1016/j.parint.2006.02.003
  • Journal Name: PARASITOLOGY INTERNATIONAL
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.219-222
  • Keywords: HLA class I deficiency, TAP deficiency, Toxoplasmosis, granuloma, therapy
  • Ankara University Affiliated: Yes

Abstract

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.