Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome-Reference-Cited by-同舟云学术

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

Published:2016-02-25 Issue:8 Volume:127 Page:997-1006
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Ammann Sandra¹²,Schulz Ansgar³,Krägeloh-Mann Ingeborg⁴,Dieckmann Nele M. G.⁵,Niethammer Klaus⁶,Fuchs Sebastian¹,Eckl Katja Martina⁷⁸,Plank Roswitha⁷⁸,Werner Roland⁸,Altmüller Janine⁷,Thiele Holger⁷,Nürnberg Peter⁷⁹,Bank Julia¹,Strauss Anne³,von Bernuth Horst¹⁰¹¹,zur Stadt Udo¹²,Grieve Samantha⁵,Griffiths Gillian M.⁵,Lehmberg Kai¹³,Hennies Hans Christian⁷⁸⁹,Ehl Stephan¹¹⁴^ORCID

Affiliation:

1. Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany;

2. Faculty of Biology, University Freiburg, Freiburg, Germany;

3. Department of Pediatrics, University Medical Center Ulm, Ulm, Germany;

4. Department of Pediatrics, University Medical Center Tübingen, Tübingen, Germany;

5. Cambridge Institute for Medical Research, Biomedical Campus, Cambridge, United Kingdom;

6. Department of Pediatrics, University Medical Center Esslingen, Esslingen, Germany;

7. Cologne Center for Genomics, University of Cologne, Cologne, Germany;

8. Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria;

9. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany;

10. Department of Pediatrics, University Medical Center Charité Berlin, Berlin, Germany;

11. Immunology, Berlin Laboratory, Charité Berlin Vivantes GmbH, Berlin, Germany;

12. Center for Diagnostics and

13. Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; and

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

Abstract

Key Points A phenotype with albinism, early-onset seizures, neurodevelopmental delay, infection susceptibility, and neutropenia is caused by AP3D1 mutations. AP3δ deficiency destabilizes the AP3 complex and defines a novel type of Hermansky-Pudlak syndrome with severe neurologic involvement.

Publisher

American Society of Hematology

Link

http://ashpublications.org/blood/article-pdf/127/8/997/1394855/997.pdf

Reference49 articles.

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4. The Chediak-Higashi syndrome: studies in four patients and a review of the literature.;Blume;Medicine (Baltimore),1972

5. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.;Dell’Angelica;Mol Cell,1999

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