The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

Author:

Jessen Birthe1,Bode Sebastian F. N.1,Ammann Sandra1,Chakravorty Subarna2,Davies Graham3,Diestelhorst Jana4,Frei-Jones Melissa5,Gahl William A.6,Gochuico Bernadette R.6,Griese Matthias4,Griffiths Gillian7,Janka Gritta8,Klein Christoph4,Kögl Tamara9,Kurnik Karin4,Lehmberg Kai8,Maul-Pavicic Andrea1,Mumford Andrew D.10,Pace David11,Parvaneh Nima12,Rezaei Nima13,de Saint Basile Geneviève14,Schmitt-Graeff Annette15,Schwarz Klaus16,Karasu Gulsun T.17,Zieger Barbara18,zur Stadt Udo19,Aichele Peter9,Ehl Stephan1

Affiliation:

1. Centre of Chronic Immunodeficiency, University Medical Center Freiburg and University of Freiburg, Germany;

2. Department of Medicine, Imperial College London, United Kingdom;

3. Immunology Department, Great Ormond Street Hospital for Children, London, United Kingdom;

4. Department of Pediatrics, Dr von Hauner Children’s Hospital, Ludwig Maximilian University, Munich, Germany;

5. The University of Texas Health Science Center San Antonio, San Antonio, TX;

6. Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD;

7. Cambridge Institute for Medical Research, Addenbrooke’s Hospital, Cambridge, United Kingdom;

8. University Medical Center Hamburg Eppendorf, Department of Pediatric Hematology and Oncology, Hamburg, Germany;

9. Department of Immunology, Institute of Medical Microbiology and Hygiene, University of Freiburg, Germany;

10. Bristol Heart Institute, University of Bristol, Bristol, United Kingdom;

11. Department of Paediatrics, Mater Dei Hospital, Tal-Qroqq, Msida, Malta;

12. Pediatric Infectious Diseases Research Center, Tehran University of Medical Sciences, Tehran, Iran;

13. Research Center for Immunodeficiencies, Children's Medical Center, and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran;

14. INSERM U768, Université Paris Descartes, Hôpital Necker-Enfants Malades, Paris, France;

15. Institute of Pathology, University Medical Center Freiburg, Freiburg, Germany;

16. Institute for Transfusion Medicine, University of Ulm, Ulm, Germany;

17. Division of Hematology and Medical Oncology, Akdeniz University Faculty of Medicine, Antalya, Turkey;

18. Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Germany; and

19. Center for Diagnostic, University Medical Center Hamburg Eppendorf, Hamburg, Germany

Abstract

Key Points Hermansky-Pudlak syndrome type 2 confers a moderate risk for hemophagocytic lymphohistiocytosis.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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