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

Ammann, Sandra; Schulz, Ansgar; Krageloh-Mann, Ingeborg; Dieckmann, Nele M. G.; Niethammer, Klaus; Fuchs, Sebastian; Eckl, Katja Martina; Plank, Roswitha; Werner, Roland; Altmuller, Janine; Thiele, Holger; Nurnberg, Peter; Bank, Julia; Srauss, A.; Strauss, Anne; von Bernuth, Horst; zur Stadt, Udo; Grieve, Samantha; Griffiths, Gillian M.; Lehmberg, Kai; Hennies, Hans Christian; Ehl, Stephan

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American Society of Hematology, Blood

DOI: 10.1182/blood-2015-09-671636

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

Journal article published in 2016 by Sandra Ammann, Ansgar Schulz, Ingeborg Krageloh-Mann, Nele M. G. Dieckmann, Klaus Niethammer, Sebastian Fuchs, Katja Martina Eckl, Roswitha Plank, Roland Werner, Janine Altmuller

, Holger Thiele, Peter Nurnberg, Julia Bank, A. Srauss, Anne Strauss and other authors.

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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.

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

Abstract