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., ...Daha Fazla

PARASITOLOGY INTERNATIONAL, cilt.55, sa.3, ss.219-222, 2006 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 3
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1016/j.parint.2006.02.003
  • Dergi Adı: PARASITOLOGY INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.219-222
  • Anahtar Kelimeler: HLA class I deficiency, TAP deficiency, Toxoplasmosis, granuloma, therapy
  • Ankara Üniversitesi Adresli: Evet

Özet

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.