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Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

Enders, Anselm; Zieger, Barbra; Schwarz, Klaus; Yoshimi, Ayami; Speckmann, Carsten; Knoepfle, Eva-Maria; Kontny, Udo; Müller, Christoph; Nurden, Alan; Rohr, Jan

Description

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]

CollectionsANU Research Publications
Date published: 2006
Type: Journal article
URI: http://hdl.handle.net/1885/22184
Source: Blood
DOI: 10.1182/blood-2005-11-4413

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