Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.

@article{Enders2006LethalHL,
  title={Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.},
  author={Anselm Enders and B Zieger and Klaus Schwarz and Ayami Yoshimi and Carsten Speckmann and E. Kn{\"o}pfle and Udo Kontny and Christoph M{\"u}ller and A. Van Nurden and Jan Rohr and Matthias Henschen and Ulrich Pannicke and Charlotte Niemeyer and Paquita Nurden and Stephan Ehl},
  journal={Blood},
  year={2006},
  volume={108 1},
  pages={81-7}
}
Griscelli syndrome (GS) was diagnosed in a 2-year-old patient with oculocutaneous albinism and immunodeficiency, but sequencing of RAB27a revealed only a heterozygous mutation. Due to impaired natural killer (NK) and T-cell cytotoxicity implying a high risk of developing hemophagocytic lymphohistiocytosis (HLH), he was prepared for hematopoietic stem cell transplantation (HSCT). Unexpectedly, a severe bleeding episode occurred that led to the demonstration of disturbed platelet aggregation… CONTINUE READING