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Title: The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type
Authors: Jessen, Birthe
Bode, Sebastian F. N.
Ammann, Sandra
Chakravorty, Subarna
Davies, Graham
Diestelhorst, Jana
Frei-Jones, Melissa
Gahl, William A.
Gochuico, Bernadette R.
Griese, Matthias
Griffiths, Gillian
Janka, Gritta
Klein, Christoph
Kogl, Tamara
Kurnik, Karin
Lehmberg, Kai
Maul-Pavicic, Andrea
Mumford, Andrew D.
Pace, David
Parvaneh, Nima
Rezaei, Nima
Saint Basile, Genevieve de
Schmitt-Graeff, Annette
Schwarz, Klaus
Karasu, Gulsun T.
Zieger, Barbara
Stadt, Udo zur
Aichele, Peter
Ehl, Stephan
Keywords: Suppressor cells
G proteins -- Recpetors -- Research -- Methodology
Flow cytometry -- Diagnostic use
Cell-mediated cytotoxicity
Signal transducing adaptor proteins
Issue Date: 2013
Publisher: The American Society of Hematology
Citation: Jessen, B., Bode, S. F., Ammann, S., Chakravorty, S., Davies, G., Diestelhorst, J., ... & Griffiths, G. (2013). The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood, 121(15), 2943-2951.
Abstract: Genetic disorders of lymphocyte cytotoxicity predispose patients to hemophagocytic lymphohistiocytosis (HLH). Reduced lymphocyte cytotoxicity has been demonstrated in Hermansky-Pudlak syndrome type 2 (HPS2), but only a single patient was reported who developed HLH. Because that patient also carried a potentially contributing heterozygous RAB27A mutation, the risk for HLH in HPS2 remains unclear. We analyzed susceptibility to HLH in the pearl mouse model of HPS2. After infection with lymphocytic choriomeningitis virus, pearl mice developed all key features of HLH, linked to impaired virus control caused by a moderate defect in CTL cytotoxicity in vivo. However, in contrast to perforin-deficient mice, the disease was transient, and all mice fully recovered and controlled the infection. An additional heterozygous Rab27a mutation did not aggravate the cytotoxicity defect or disease parameters. In the largest survey of 22 HPS2 patients covering 234 patient years, we identified only 1 additional patient with HLH and 2 with incomplete transient HLH-like episodes, although cytotoxicity or degranulation was impaired in all 16 patients tested. HPS2 confers a risk for HLH that is lower than in Griscelli or Chediak-Higashi syndrome, probably because of a milder defect in cytotoxicity. Preemptive hematopoietic stem cell transplantation does not appear justified in HPS2. (Blood. 2013;121(15):2943-2951)
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