Enders, Anselm; Zieger, Barbra; Schwarz, Klaus; Yoshimi, Ayami; Speckmann, Carsten; Knoepfle, Eva-Maria; Kontny, Udo; Müller, Christoph; Nurden, Alan; Rohr, Jan
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,...[Show more]
Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.