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Mutations in AP3D1 associated with immunodeficiency and
seizures define a new type of Hermansky-Pudlak syndrome
by Sandra Ammann, Ansgar Schulz, Ingeborg Krägeloh-Mann, Nele M. G.
Dieckmann, Klaus Niethammer, Sebastian Fuchs, Katja Martina Eckl, Roswitha
Plank, Roland Werner, Janine Altmüller, Holger Thiele, Peter Nürnberg, Julia Bank,
Anne Strauss, Horst von Bernuth, Udo zur Stadt, Samantha Grieve, Gillian M.
Griffiths, Kai Lehmberg, Hans Christian Hennies, and Stephan Ehl
Blood
Volume 127(8):997-1006
February 25, 2016
©2016 by American Society of Hematology
Clinical phenotype of the patient.
Sandra Ammann et al. Blood 2016;127:997-1006
©2016 by American Society of Hematology
Impaired degranulation and cytotoxicity of patient NK cells.
Sandra Ammann et al. Blood 2016;127:997-1006
©2016 by American Society of Hematology
Genetic analysis and model of the AP3 complex.
Sandra Ammann et al. Blood 2016;127:997-1006
©2016 by American Society of Hematology
Reduced expression of AP3δ affects the stability of the AP3 complex.
Sandra Ammann et al. Blood 2016;127:997-1006
©2016 by American Society of Hematology
Genetic reconstitution with wild-type AP3D1 restores expression and function of the AP3
complex.
Sandra Ammann et al. Blood 2016;127:997-1006
©2016 by American Society of Hematology
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