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Journal Articles

Retrospective Next Generation DNA Sequencing Analysis in Patients with Hemophagocytic Lymphohistiocytosis (HLH) Highlights Genetic Variants Associated with Secondary/Late-Onset Disease

Meeta Sunil, Chirantan Bose, Coral Karunakaran, Sunil Bhat, MBBS, MD, Nita Radhakrishnan, Srisha Rani, Sakthivel Murugan SM, Sharat Damodar, MBBS, MD DM, Ravi Gupta, Rohit Gupta, Mukesh Manharlal Desai, MBBS,MD, Arati Khanna-Gupta, PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 2286.
https://doi.org/10.1182/blood.V130.Suppl_1.2286.2286
Published: 2017
Journal Articles

Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency

Brief Report
Alberto Prandini, Valentina Salvi, Francesca Colombo, Daniele Moratto, Luisa Lorenzi, William Vermi, Maria Antonia De Francesco, Lucia Dora Notarangelo, Fulvio Porta, Alessandro Plebani, Fabio Facchetti, Silvano Sozzani, Raffaele Badolato
Journal: Blood
Blood (2016) 127 (26): 3382–3386.
https://doi.org/10.1182/blood-2015-06-650689
Published: 2016
Includes: Supplemental data
Journal Articles

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

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, Stephan Ehl
Journal: Blood
Blood (2016) 127 (8): 997–1006.
https://doi.org/10.1182/blood-2015-09-671636
Published: 2016
Includes: Supplemental data
Journal Articles

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

Birthe Jessen, Sebastian F. N. Bode, Sandra Ammann, Subarna Chakravorty, Graham Davies, Jana Diestelhorst, Melissa Frei-Jones, William A. Gahl, Bernadette R. Gochuico, Matthias Griese, Gillian Griffiths, Gritta Janka, Christoph Klein, Tamara Kögl, Karin Kurnik, Kai Lehmberg, Andrea Maul-Pavicic, Andrew D. Mumford, David Pace, Nima Parvaneh, Nima Rezaei, Geneviève de Saint Basile, Annette Schmitt-Graeff, Klaus Schwarz, Gulsun T. Karasu, Barbara Zieger, Udo zur Stadt, Peter Aichele, Stephan Ehl
Journal: Blood
Blood (2013) 121 (15): 2943–2951.
https://doi.org/10.1182/blood-2012-10-463166
Published: 2013
Includes: Supplemental data
Journal Articles

A Case of Hermansky Pudlak Syndrome Type 2

Vandana Bharadwaj, MRCPCH, Andrew Mumford, PhD, FRCPath, Josu de la Fuente, PhD, FRCP, FRCPath, Subarna Chakravorty, PhD, FRCPath, MRCPCH
Journal: Blood
Blood (2011) 118 (21): 4919.
https://doi.org/10.1182/blood.V118.21.4919.4919
Published: 2011
Journal Articles

Patients with Hermansky-Pudlak Syndrome Show Various Phenotypes Caused by Novel Mutations,

Kirstin Sandrock, PhD, Karin Kurnik, MD, Stephan Ehl, MD, Christoph Bidlingmaier, Lea Nakamura, Nina Rombach, MD, Sophie Schäfer, MD, Barbara Zieger, MD
Journal: Blood
Blood (2011) 118 (21): 3286.
https://doi.org/10.1182/blood.V118.21.3286.3286
Published: 2011
Journal Articles

Neutrophil elastase in cyclic and severe congenital neutropenia

Clinical Trials & Observations
Marshall S. Horwitz, Zhijun Duan, Brice Korkmaz, Hu-Hui Lee, Matthew E. Mealiffe, Stephen J. Salipante
Journal: Blood
Blood (2006) 109 (5): 1817–1824.
https://doi.org/10.1182/blood-2006-08-019166
Published: 2006
Journal Articles

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

Stefania Fontana, Silvia Parolini, William Vermi, Sarah Booth, Federico Gallo, Marta Donini, Marzia Benassi, Francesca Gentili, Daniela Ferrari, Lucia D. Notarangelo, Patrizia Cavadini, Emanuela Marcenaro, Stefano Dusi, Marco Cassatella, Fabio Facchetti, Gillian M. Griffiths, Alessandro Moretta, Luigi D. Notarangelo, Raffaele Badolato
Journal: Blood
Blood (2006) 107 (12): 4857–4864.
https://doi.org/10.1182/blood-2005-11-4398
Published: 2006
Journal Articles

The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes

Lijun Feng, Edward K. Novak, Lisa M. Hartnell, Juan S. Bonifacino, Lucy M. Collinson, Richard T. Swank
Journal: Blood
Blood (2002) 99 (5): 1651–1658.
https://doi.org/10.1182/blood.V99.5.1651.h8001651_1651_1658
Published: 2002