Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1

Author:

Speak Anneliese O.1,te Vruchte Danielle1,Davis Lianne C.1,Morgan Anthony J.1,Smith David A.1,Yanjanin Nicole M.2,Simmons Louise3,Hartung Ralf4,Runz Heiko4,Mengel Eugen4,Beck Michael4,Imrie Jackie5,Jacklin Elizabeth5,Wraith James E.5,Hendriksz Christian3,Lachmann Robin6,Cognet Celine78,Sidhu Rohini9,Fujiwara Hideji9,Ory Daniel S.9,Galione Antony1,Porter Forbes D.2,Vivier Eric78,Platt Frances M.1

Affiliation:

1. Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, United Kingdom;

2. Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD;

3. Birmingham Children’s Hospital NHS Foundation Trust, Birmingham, United Kingdom;

4. University Medical Centre, University of Mainz Children’s Hospital, Mainz, Germany;

5. Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, United Kingdom;

6. National Hospital for Neurology and Neurosurgery, London, United Kingdom;

7. Assistance Publique – Hôpitaux de Marseille, Hôpital de la Conception, Marseille, France;

8. Centre d’Immunologie de Marseille-Luminy, Université de la Méditerranée, Campus de Luminy, Marseille, France; and

9. Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO

Abstract

Key Points Lysosomal storage affects NK-cell frequency, development, and function. Lysosomal calcium is important for NK-cell degranulation.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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