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Gillian M. Griffiths
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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

Defective CD107a Surface Expression Heralds Munc13-4 Defect and Discriminates between Genetic Subtypes of Familial Hemophagocytic Lymphohistiocytosis (FHL).

Maurizio Aricò, Stefania Marcenaro, Federico Gallo, Stefania Martini, Alessandra Santoro, Gillian M. Griffiths, Lorenzo Moretta, Daniela Pende
Journal: Blood
Blood (2006) 108 (11): 1248.
https://doi.org/10.1182/blood.V108.11.1248.1248
Published: 2006
Journal Articles

Analysis of natural killer–cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease

Clinical Trials & Observations
Stefania Marcenaro, Federico Gallo, Stefania Martini, Alessandra Santoro, Gillian M. Griffiths, Maurizio Aricó, Lorenzo Moretta, Daniela Pende
Journal: Blood
Blood (2006) 108 (7): 2316–2323.
https://doi.org/10.1182/blood-2006-04-015693
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

Novel Munc13-4 Mutations in Patients with Hemophagocytic Lymphohistiocytosis.

Alessandra Santoro, Sonia Cannella, Antonino Trizzino, Cesare Danesino, Daniela Pende, Carmen De Fusco, Concetta Micalizzi, Patrizia Bertolini, Lorenzo Moretta, Luigi D. Notarangelo, Gillian M. Griffiths, Maurizio Aricò
Journal: Blood
Blood (2005) 106 (11): 2807.
https://doi.org/10.1182/blood.V106.11.2807.2807
Published: 2005
Journal Articles

A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin

Clinical Trials & Observations
Christina Trambas, Federico Gallo, Daniela Pende, Stefania Marcenaro, Lorenzo Moretta, Carmela De Fusco, Alessandra Santoro, Luigi Notarangelo, Maurizio Arico, Gillian M. Griffiths
Journal: Blood
Blood (2005) 106 (3): 932–937.
https://doi.org/10.1182/blood-2004-09-3713
Published: 2005